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 PABPC1L 80336 broad.mit.edu 37 20 43559304 43559304 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:43559304G>A ENST00000255136.3 + 8 1258 c.1176G>A c.(1174-1176)ctG>ctA p.L392L PABPC1L_ENST00000217073.2_Silent_p.L392L|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_3'UTR NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 392 nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 TGCGGACCCTGAGCAACCCCC 0.652000 17 230 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111749980 111749980 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:111749980G>A ENST00000261726.6 + 16 2131 c.1977G>A c.(1975-1977)aaG>aaA p.K659K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 659 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGCAGGCCAAGAAGGAGATCG 0.617000 6 16 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50677799 50677799 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:50677799C>T ENST00000446044.1 + 5 818 c.222C>T c.(220-222)ctC>ctT p.L74L MAPKAPK3_ENST00000357955.2_Silent_p.L74L NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 74 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) ACCTACAGCTCCTGTATGACA 0.542000 47 148 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39947589 39947589 + Translation_Start_Site SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:39947589G>C ENST00000398897.1 - 0 139 ERG_ENST00000398911.1_Missense_Mutation_p.I12M|ERG_ENST00000442448.1_Missense_Mutation_p.I12M|ERG_ENST00000398919.2_Missense_Mutation_p.I12M|ERG_ENST00000417133.2_Missense_Mutation_p.I12M|ERG_ENST00000398910.1_Missense_Mutation_p.I12M|ERG_ENST00000485493.1_5'UTR NM_001243429.1 NP_001230358.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) GACTTACCTTGATATGAGCTG 0.512000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 6 36 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536578 5536578 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:5536578G>T ENST00000380184.1 - 1 1357 c.1094C>A c.(1093-1095)aCc>aAc p.T365N HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 365 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTGGCCCTTGGTGGAAATCAT 0.478000 33 94 1.66425e-11 1.97846e-11 1 1 0 KLHL2 11275 broad.mit.edu 37 4 166232659 166232659 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:166232659G>T ENST00000226725.6 + 11 1540 c.1281G>T c.(1279-1281)tgG>tgT p.W427C KLHL2_ENST00000538127.1_Missense_Mutation_p.W339C|KLHL2_ENST00000421009.2_Missense_Mutation_p.W330C|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.W431C|KLHL2_ENST00000506761.1_Missense_Mutation_p.W261C NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 427 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTAATGAGTGGTTTCATGTAG 0.383000 40 151 8.69298e-16 1.08735e-15 1 1 0 ACTC1 70 broad.mit.edu 37 15 35085757 35085757 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:35085757C>A ENST00000290378.4 - 3 798 c.143G>T c.(142-144)gGt>gTt p.G48V RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 48 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CTGACCCATACCCACCATAAC 0.453000 15 32 0.000219431 0.000231259 1 1 0 ZNF680 340252 broad.mit.edu 37 7 63982109 63982109 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:63982109C>A ENST00000309683.6 - 4 1174 c.1023G>T c.(1021-1023)aaG>aaT p.K341N NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) TATGAATTTTCTTATGTTTAG 0.353000 13 44 0.00244969 0.00253853 1 1 0 CAPN6 827 broad.mit.edu 37 X 110494154 110494154 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrX:110494154C>A ENST00000324068.1 - 8 1316 c.1149G>T c.(1147-1149)caG>caT p.Q383H CAPN6_ENST00000541758.1_Missense_Mutation_p.Q128H NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 383 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCTGGGGATTCTGCAGGAAGG 0.458000 42 102 4.16155e-14 5.12774e-14 1 1 0 CD82 3732 broad.mit.edu 37 11 44640247 44640247 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:44640247G>T ENST00000227155.4 + 9 948 c.700G>T c.(700-702)Gtg>Ttg p.V234L CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.V209L NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 234 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 CATCCTCGGCGTGGGCGTGGG 0.627000 9 56 0.000442599 0.000463171 1 1 0 CHAF1A 10036 broad.mit.edu 37 19 4409421 4409421 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:4409421G>A ENST00000301280.5 + 3 726 c.625G>A c.(625-627)Gag>Aag p.E209K NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 209 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCTGCCCGGAGCTGACGAG 0.587000 Chromatin Structure 12 49 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9431505 9431505 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:9431505C>T ENST00000379719.3 + 4 493 c.351C>T c.(349-351)atC>atT p.I117I NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 117 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTCATCACATCATCAAACATG 0.388000 22 64 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72865490 72865490 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:72865490C>G ENST00000296792.4 + 5 792 c.537C>G c.(535-537)ctC>ctG p.L179L UTP15_ENST00000508491.1_Silent_p.L160L|UTP15_ENST00000543251.1_5'UTR NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 179 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) ATCCGGATCTCTTTATAACAG 0.383000 23 73 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43843292 43843292 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:43843292G>C ENST00000402924.1 + 8 641 c.478G>C c.(478-480)Gag>Cag p.E160Q BLVRA_ENST00000265523.4_Missense_Mutation_p.E160Q NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 160 E -> D (in Ref. 2; CAA63635). heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) GTTGGAAGAAGAGCGGTTTGG 0.592000 72 244 0 0 1 0 0 AARS 16 broad.mit.edu 37 16 70302228 70302228 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:70302228G>A ENST00000261772.8 - 8 1160 c.1017C>T c.(1015-1017)ctC>ctT p.L339L NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 339 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TGCTGGCATTGAGCTTTTCAT 0.502000 28 46 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6679397 6679397 + RNA SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:6679397G>C ENST00000518724.1 - 0 951 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TTGCCATGTAGAACGTGACCA 0.532000 4 16 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30703508 30703508 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:30703508C>T ENST00000256246.2 - 1 3100 c.3026G>A c.(3025-3027)aGa>aAa p.R1009K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1009 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTGAACTCTTCTATGAGCTTT 0.333000 16 165 0 0 1 0 0 SNHG1 23642 broad.mit.edu 37 11 62620824 62620824 + RNA SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:62620824C>T ENST00000364799.1 - 0 43 NR_002560.1 CTTTCAGTCACACATTGATCA 0.438000 7 86 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25966945 25966945 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:25966945G>C ENST00000435504.4 - 13 2554 c.2261C>G c.(2260-2262)tCt>tGt p.S754C ASXL2_ENST00000272341.4_Missense_Mutation_p.S494C|ASXL2_ENST00000404843.1_Missense_Mutation_p.S494C|ASXL2_ENST00000336112.4_Missense_Mutation_p.S726C Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 754 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGGTCTCAGACTGGGGCTG 0.582000 27 118 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587266 55587266 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:55587266C>A ENST00000333976.4 + 1 181 c.161C>A c.(160-162)cCc>cAc p.P54H NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) AAAATCAACCCCAAACTGCAT 0.448000 57 166 1.04682e-39 1.34565e-39 1 1 0 NLGN3 54413 broad.mit.edu 37 X 70387540 70387540 + Missense_Mutation SNP T T G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrX:70387540T>G ENST00000374051.3 + 6 1855 c.1533T>G c.(1531-1533)ttT>ttG p.F511L NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.F491L|NLGN3_ENST00000358741.3_Missense_Mutation_p.F531L NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 531 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CCTATGTTTTTGGGGTTCCTA 0.502000 7 78 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22574651 22574651 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:22574651G>T ENST00000357774.5 - 4 1507 c.1386C>A c.(1384-1386)taC>taA p.Y462* NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CTTCACATTTGTAGGGTTTCT 0.378000 4 33 0.000602214 0.000629318 1 1 0 RNF151 146310 broad.mit.edu 37 16 2018885 2018885 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:2018885G>A ENST00000569714.1 + 4 705 c.697G>A c.(697-699)Gag>Aag p.E233K RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Missense_Mutation_p.E232K NM_174903.4 NP_777563.2 Q2KHN1 RN151_HUMAN ring finger protein 151 233 cell differentiation|spermatogenesis cytoplasm|nucleus ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(1) 2 CGTTGGGGCTGAGGTGGTGGG 0.632000 5 14 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3475520 3475520 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:3475520C>G ENST00000174621.6 - 13 2410 c.2121G>C c.(2119-2121)acG>acC p.T707T TRPV1_ENST00000576351.1_Silent_p.T699T|TRPV1_ENST00000571088.1_Silent_p.T709T|SHPK_ENST00000572705.1_Silent_p.T709T|TRPV1_ENST00000399759.3_Silent_p.T709T|TRPV1_ENST00000399756.4_Silent_p.T709T|TRPV1_ENST00000310522.5_Silent_p.T649T|TRPV1_ENST00000425167.2_Silent_p.T720T Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 709 AD (By similarity). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) AGCTCTTCTCCGTGTCCAGGA 0.612000 4 14 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1705288 1705288 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:1705288A>T ENST00000397412.3 + 9 1205 c.1106A>T c.(1105-1107)cAt>cTt p.H369L LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.H366L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.H369L Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 369 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 TGGGCGCTCCATGAGGTGCGA 0.557000 18 50 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605676 171605676 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:171605676C>T ENST00000037502.5 - 3 963 c.904G>A c.(904-906)Gac>Aac p.D302N NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 302 Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTGATGAGGTCATACTCAAAA 0.562000 12 114 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181792 140181792 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:140181792T>A ENST00000522353.2 + 1 1010 c.1010T>A c.(1009-1011)cTa>cAa p.L337Q PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L337Q|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCACAGTTCTACTCGAAATT 0.393000 35 130 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37369772 37369772 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:37369772C>G ENST00000333461.5 - 9 1350 c.981G>C c.(979-981)gaG>gaC p.E327D NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 327 SH3. intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 TCCACCAGTCCTCGTTAGAGT 0.627000 22 63 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745843 77745843 + Silent SNP G G A rs34870411 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:77745843G>A ENST00000409088.3 - 3 1566 c.1152C>T c.(1150-1152)atC>atT p.I384I LRRTM4_ENST00000409884.1_Silent_p.I384I|LRRTM4_ENST00000409911.1_Silent_p.I385I|LRRTM4_ENST00000409093.1_Silent_p.I384I|LRRTM4_ENST00000409282.1_Silent_p.I385I NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 384 integral to membrane p.I384I(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TAGGTCTAGGGATAATCAGAG 0.488000 8 48 0 0 1 0 0 ZNF304 57343 broad.mit.edu 37 19 57863063 57863063 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:57863063C>T ENST00000391705.3 + 2 315 c.31C>T c.(31-33)Cag>Tag p.Q11* ZNF304_ENST00000282286.5_Nonsense_Mutation_p.Q11*|ZNF304_ENST00000443917.2_Nonsense_Mutation_p.Q11*|CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000598744.1_5'UTR NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GGACCGGGTTCAGGTGAGTGG 0.652000 15 74 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106119491 106119491 + Splice_Site SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:106119491G>T ENST00000329625.5 + 2 198 c.e2+1 DAOA_ENST00000375936.3_Splice_Site|DAOA-AS1_ENST00000448407.1_RNA P59103 DAOA_HUMAN D-amino acid oxidase activator Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AACTCTATTGGTATGTTACTC 0.284000 17 59 1.56452e-12 1.89015e-12 1 1 0 NEURL1 9148 broad.mit.edu 37 10 105330799 105330799 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:105330799C>A ENST00000369780.4 + 2 665 c.256C>A c.(256-258)Cag>Aag p.Q86K NEURL_ENST00000369777.2_Missense_Mutation_p.Q69K NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 86 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGTCAAGAGGCAGGCCAGCTT 0.682000 23 70 1.22574e-08 1.41857e-08 1 1 0 CALCR 799 broad.mit.edu 37 7 93116258 93116258 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:93116258C>A ENST00000359558.2 - 4 389 c.90G>T c.(88-90)ctG>ctT p.L30L CALCR_ENST00000394441.1_Silent_p.L12L|CALCR_ENST00000360249.4_Silent_p.L12L|CALCR_ENST00000421592.1_Silent_p.L12L|CALCR_ENST00000426151.1_Silent_p.L12L NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 12 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GAAGAAGAAACAGTGCCAAGC 0.299000 20 93 2.4624e-09 2.86765e-09 1 1 0 CBWD2 150472 broad.mit.edu 37 2 114220012 114220012 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:114220012C>G ENST00000433343.2 + 9 807 c.495C>G c.(493-495)ctC>ctG p.L165L CBWD2_ENST00000259199.4_Silent_p.L201L|CBWD2_ENST00000416503.2_Silent_p.L201L Q8IUF1 CBWD2_HUMAN COBW domain containing 2 201 ATP binding|protein binding endometrium(1)|lung(1) 2 ATGCCATTCTCATTAATAAAA 0.333000 9 176 0 0 1 0 0 E2F2 1870 broad.mit.edu 37 1 23847476 23847476 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:23847476C>A ENST00000361729.2 - 4 1092 c.666G>T c.(664-666)caG>caT p.Q222H NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 222 Dimerization (Potential). G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) GGTCCAAGGCCTGCTCCGTGT 0.572000 10 47 0.00621372 0.00635047 1 1 0 APAF1 317 broad.mit.edu 37 12 99059401 99059401 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:99059401C>G ENST00000357310.1 + 8 1603 c.1026C>G c.(1024-1026)ctC>ctG p.L342L APAF1_ENST00000550527.1_Silent_p.L331L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Silent_p.L342L|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Silent_p.L331L|APAF1_ENST00000551964.1_Silent_p.L342L|APAF1_ENST00000339433.3_Silent_p.L342L|APAF1_ENST00000549007.1_Silent_p.L342L NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 342 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) AGTACTACCTCAAACAGCTTC 0.368000 24 124 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4778906 4778906 + Splice_Site SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:4778906G>T ENST00000266544.5 + 8 743 c.e8-1 RP11-234B24.6_ENST00000544741.2_Intron NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) ATTTCTTACAGGTCGTAGATG 0.353000 24 80 1.1804e-14 1.46416e-14 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10469814 10469814 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:10469814G>T ENST00000382483.3 - 4 2017 c.1794C>A c.(1792-1794)acC>acA p.T598T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 598 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGGCCTGCTCGGTGCCCTGTC 0.637000 37 84 1.90571e-15 2.37176e-15 1 1 0 KIRREL2 84063 broad.mit.edu 37 19 36348266 36348266 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:36348266G>T ENST00000360202.5 + 2 279 c.81G>T c.(79-81)ctG>ctT p.L27L KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000586102.2_Silent_p.L27L|KIRREL2_ENST00000262625.7_Silent_p.L27L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L27L NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 27 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCATTTCCTGCAACAGCCAG 0.657000 21 94 2.21704e-12 2.66546e-12 1 1 0 C8orf86 389649 broad.mit.edu 37 8 38385958 38385958 + Silent SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:38385958T>A ENST00000358138.1 - 1 222 c.198A>T c.(196-198)acA>acT p.T66T C8orf86_ENST00000437935.2_Silent_p.T66T NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 66 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 TGGAACTGCCTGTTCTTTGTC 0.557000 31 89 0 0 1 0 0 IER5L 389792 broad.mit.edu 37 9 131939601 131939601 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:131939601G>C ENST00000372491.2 - 1 939 c.731C>G c.(730-732)tCg>tGg p.S244W RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA NM_203434.2 NP_982258.2 Q5T953 IER5L_HUMAN immediate early response 5-like 244 Ovarian(14;0.0448)|Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) GCCGAAGTCCGAAGGGGTAGG 0.716000 4 52 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139193057 139193057 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:139193057C>T ENST00000274710.3 + 3 740 c.535C>T c.(535-537)Ccc>Tcc p.P179S NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 179 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGAGGCCCCCCTCACACC 0.677000 5 73 0 0 1 0 0 LINC00303 284573 broad.mit.edu 37 1 204006311 204006311 + RNA SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:204006311T>A ENST00000367207.3 - 0 709 GCCTTGCCCCTGCTGGCTGAG 0.517000 13 4 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9404407 9404407 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:9404407G>C ENST00000378501.2 + 24 2311 c.2296G>C c.(2296-2298)Gac>Cac p.D766H PLCB4_ENST00000378473.3_Missense_Mutation_p.D778H|PLCB4_ENST00000334005.3_Missense_Mutation_p.D766H|PLCB4_ENST00000278655.4_Missense_Mutation_p.D766H|PLCB4_ENST00000414679.2_Missense_Mutation_p.D778H|PLCB4_ENST00000378493.1_Missense_Mutation_p.D766H|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 766 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GATCCTGCCGGACCTGGCTGT 0.498000 4 37 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64666299 64666299 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:64666299C>T ENST00000421419.2 - 32 4600 c.4486G>A c.(4486-4488)Gag>Aag p.E1496K ATG2A_ENST00000377264.3_Missense_Mutation_p.E1494K Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1494 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGTACACCTCGTGCTGGAAG 0.657000 3 32 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67702293 67702293 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:67702293C>T ENST00000403458.4 + 4 899 c.744C>T c.(742-744)ctC>ctT p.L248L NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 248 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCCCAGGCCTCGCTTTGCCCT 0.692000 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 18 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517387 20517387 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:20517387C>G ENST00000375099.3 + 2 417 c.333C>G c.(331-333)ctC>ctG p.L111L NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 111 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CCTCTTCTCTCAATAAGTATC 0.517000 17 61 0 0 1 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80604808 80604808 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:80604808G>A ENST00000254037.2 + 3 3734 c.579G>A c.(577-579)ggG>ggA p.G193G ZCCHC9_ENST00000407610.3_Silent_p.G193G|ZCCHC9_ENST00000380199.5_Silent_p.G193G|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Silent_p.G193G Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 193 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) GAGAAATGGGGCACCTGTCTA 0.388000 16 75 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47040664 47040664 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:47040664C>T ENST00000371946.4 - 6 506 c.343G>A c.(343-345)Gaa>Aaa p.E115K MKNK1_ENST00000341183.5_Missense_Mutation_p.E115K|MKNK1_ENST00000428112.2_Missense_Mutation_p.E115K|MKNK1_ENST00000545730.1_Missense_Mutation_p.E115K|MKNK1_ENST00000371944.4_Intron|MKNK1_ENST00000371945.4_Missense_Mutation_p.E115K NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 115 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) GTGTCATCTTCAAAGAACTCA 0.388000 18 45 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 501316 501316 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:501316G>A ENST00000453061.2 + 4 799 c.693G>A c.(691-693)ctG>ctA p.L231L PIGG_ENST00000383028.4_Intron|PIGG_ENST00000536264.1_Silent_p.L109L|PIGG_ENST00000503111.1_Silent_p.L142L|PIGG_ENST00000504346.1_Silent_p.L142L|PIGG_ENST00000509768.1_Silent_p.L142L|PIGG_ENST00000310340.5_Silent_p.L231L|PIGG_ENST00000296306.7_Silent_p.L142L NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 231 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 ACAGCCCCCTGATTGGGCAGA 0.522000 17 57 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28651775 28651775 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:28651775G>A ENST00000280904.6 - 13 2364 c.1921C>T c.(1921-1923)Cct>Tct p.P641S DSC2_ENST00000251081.6_Missense_Mutation_p.P641S NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 641 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCAAATGGAGGATCATTCTGA 0.353000 6 55 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132534868 132534868 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:132534868G>C ENST00000265342.7 - 16 2697 c.2448C>G c.(2446-2448)atC>atG p.I816M CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 816 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCTCCCATTGATGAGGAACA 0.597000 7 30 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131896840 131896840 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:131896840C>A ENST00000286355.5 - 8 4171 c.2079G>T c.(2077-2079)ctG>ctT p.L693L ADCY8_ENST00000377928.3_Silent_p.L693L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 693 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTTTAAACATCAGTGAGAATG 0.458000 HNSCC(32;0.087) 25 125 1.96895e-08 2.26109e-08 1 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1967762 1967762 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:1967762C>T ENST00000382722.5 - 20 2351 c.1989G>A c.(1987-1989)ggG>ggA p.G663G CACNA2D4_ENST00000588077.1_Silent_p.G599G|CACNA2D4_ENST00000586184.1_Silent_p.G663G|CACNA2D4_ENST00000587995.1_Silent_p.G638G|CACNA2D4_ENST00000585732.1_Silent_p.G524G|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585708.1_Silent_p.G599G NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 663 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGACGTGTTCCCCAGAAGGA 0.587000 11 38 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232727 56232727 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:56232727C>G ENST00000268912.5 + 1 234 c.213C>G c.(211-213)ctC>ctG p.L71L NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCATAGACCTCTGCTATTCCA 0.507000 48 134 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973838 64973838 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:64973838C>T ENST00000399262.2 - 8 2307 c.2089G>A c.(2089-2091)Gaa>Aaa p.E697K JMJD1C_ENST00000402544.1_Missense_Mutation_p.E478K|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E478K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E515K NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 697 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTGTAGTTTCTAATGTACTG 0.368000 21 92 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144912139 144912139 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:144912139C>T ENST00000529945.1 - 11 3064 c.2625G>A c.(2623-2625)caG>caA p.Q875Q PDE4DIP_ENST00000313382.9_Silent_p.Q778Q|PDE4DIP_ENST00000369351.3_Silent_p.Q712Q|PDE4DIP_ENST00000369349.3_Silent_p.Q712Q|PDE4DIP_ENST00000369356.4_Silent_p.Q712Q|PDE4DIP_ENST00000479408.2_Silent_p.Q499Q|PDE4DIP_ENST00000313431.9_Silent_p.Q875Q|PDE4DIP_ENST00000369359.4_Silent_p.Q849Q|PDE4DIP_ENST00000530740.1_Silent_p.Q849Q|PDE4DIP_ENST00000369354.3_Silent_p.Q712Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 712 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTTGATCAGTCTGTTTTCCAA 0.403000 T PDGFRB MPD 11 147 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50869400 50869400 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:50869400C>A ENST00000398473.2 + 16 2040 c.1928C>A c.(1927-1929)tCc>tAc p.S643Y LARP4_ENST00000429001.3_Missense_Mutation_p.S649Y|LARP4_ENST00000293618.8_Missense_Mutation_p.S572Y|LARP4_ENST00000518444.1_Missense_Mutation_p.S642Y|LARP4_ENST00000347328.5_Missense_Mutation_p.S572Y NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 643 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GAACTTCGCTCCAATGTGGTG 0.478000 25 229 3.08376e-08 3.52498e-08 1 1 0 ZNF570 148268 broad.mit.edu 37 19 37975989 37975989 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:37975989C>T ENST00000330173.1 + 5 1994 c.1465C>T c.(1465-1467)Cag>Tag p.Q489* ZNF570_ENST00000388801.3_Nonsense_Mutation_p.Q286*|ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Q545* NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCCCAACATCAGAGAATTCA 0.433000 10 87 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133920472 133920472 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:133920472C>T ENST00000220616.4 + 18 3929 c.3889C>T c.(3889-3891)Cag>Tag p.Q1297* TG_ENST00000377869.1_Nonsense_Mutation_p.Q1297* NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1297 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGGCACTTTCAGCTCCAGCT 0.562000 10 58 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75557778 75557778 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:75557778C>G ENST00000604729.1 + 19 4199 c.3902C>G c.(3901-3903)tCt>tGt p.S1301C ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1263C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1296C|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1301C|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S1296C zinc finger, SWIM-type containing 8 AACTTTGTTTCTCCCAACTGG 0.527000 5 62 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46314535 46314535 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:46314535C>T ENST00000510861.1 - 5 627 c.454G>A c.(454-456)Ggg>Agg p.G152R GABRA2_ENST00000507069.1_Missense_Mutation_p.G152R|GABRA2_ENST00000514090.1_Missense_Mutation_p.G152R|GABRA2_ENST00000515082.1_Missense_Mutation_p.G152R|GABRA2_ENST00000540012.1_Missense_Mutation_p.G97R|GABRA2_ENST00000381620.4_Missense_Mutation_p.G152R|GABRA2_ENST00000356504.1_Missense_Mutation_p.G152R P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 152 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGCAGAGTCCCATCATCCTGA 0.348000 7 113 0 0 1 0 0 NPM1 4869 broad.mit.edu 37 5 170827897 170827897 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:170827897G>A ENST00000296930.5 + 8 938 c.637G>A c.(637-639)Gac>Aac p.D213N NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Missense_Mutation_p.D213N|NPM1_ENST00000393820.2_Missense_Mutation_p.D213N NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 213 D -> P (in Ref. 21; AAA36473/AAA36474). anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAATGGAAAAGACTCAAAACC 0.383000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 6 67 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90856201 90856201 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:90856201T>C ENST00000394980.1 + 7 1689 c.1370T>C c.(1369-1371)gTg>gCg p.V457A MMRN1_ENST00000264790.2_Missense_Mutation_p.V457A|MMRN1_ENST00000508372.1_Missense_Mutation_p.V199A|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 457 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ACTGATATAGTGGAACTAAGG 0.368000 28 97 0 0 1 0 0 PRDX6 9588 broad.mit.edu 37 1 173454505 173454505 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:173454505C>G ENST00000340385.5 + 3 390 c.258C>G c.(256-258)atC>atG p.I86M PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 86 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 TTCAGGATATCAATGCTTACA 0.438000 15 107 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185703998 185703998 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:185703998G>C ENST00000271588.4 + 1 316 c.87G>C c.(85-87)gaG>gaC p.E29D HMCN1_ENST00000367492.2_Missense_Mutation_p.E29D NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 29 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCAGTCAGAGATCAGAGCTG 0.448000 33 246 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558401 113558401 + Silent SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:113558401T>C ENST00000284601.3 - 1 719 c.651A>G c.(649-651)acA>acG p.T217T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 217 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTGACCAAAATGTACCAACAG 0.348000 29 99 0 0 1 0 0 ROGDI 79641 broad.mit.edu 37 16 4848120 4848120 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:4848120G>T ENST00000322048.7 - 8 975 c.597C>A c.(595-597)ctC>ctA p.L199L ROGDI_ENST00000586336.1_5'UTR NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 199 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 CCGTGAGGCAGAGCTTGTTGA 0.662000 9 33 0.000442599 0.000463171 1 1 0 ANKFY1 51479 broad.mit.edu 37 17 4080482 4080482 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:4080482G>C ENST00000341657.4 - 19 2749 c.2714C>G c.(2713-2715)tCc>tGc p.S905C ANKFY1_ENST00000570535.1_Missense_Mutation_p.S947C|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.S906C NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 905 S -> P (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 GGTCAACTTGGAGGCATCCTG 0.448000 24 68 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82841369 82841369 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:82841369C>A ENST00000265077.3 + 9 9844 c.9279C>A c.(9277-9279)tgC>tgA p.C3093* VCAN_ENST00000502527.2_Nonsense_Mutation_p.C352*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.C2106*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.C1339*|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Nonsense_Mutation_p.C1291*|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3093 EGF-like 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTGATCGCTGCAAAATGAACC 0.463000 44 198 6.1207e-33 7.85436e-33 1 1 0 CCDC73 493860 broad.mit.edu 37 11 32635205 32635205 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:32635205C>G ENST00000335185.5 - 16 2702 c.2659G>C c.(2659-2661)Gat>Cat p.D887H NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 887 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GTTGAAAGATCAAAGGTTGAC 0.378000 53 186 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187603 152187603 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:152187603G>A ENST00000368801.2 - 3 6577 c.6502C>T c.(6502-6504)Cag>Tag p.Q2168* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2168 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCGAAGACTGACGGGAGCCA 0.622000 30 896 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158114939 158114939 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:158114939G>A ENST00000259056.4 + 1 830 c.345G>A c.(343-345)caG>caA p.Q115Q NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 115 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GAAAAATGCAGAATGCCCTGG 0.532000 6 101 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816569 6816569 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:6816569G>T ENST00000332601.3 - 1 559 c.371C>A c.(370-372)gCc>gAc p.A124D NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCGATCATAGGCCATAACAGC 0.532000 14 56 2.61681e-11 3.1059e-11 1 1 0 FNBP1 23048 broad.mit.edu 37 9 132671200 132671200 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:132671200T>A ENST00000420781.1 - 12 1455 c.1237A>T c.(1237-1239)Aat>Tat p.N413Y FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.N422Y|FNBP1_ENST00000443566.2_Missense_Mutation_p.N50Y|FNBP1_ENST00000355681.3_Missense_Mutation_p.N393Y Q96RU3 FNBP1_HUMAN formin binding protein 1 422 Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) ATTTCTTTATTTAACTCATCG 0.423000 T MLL AML 9 20 0 0 1 0 0 CXCL10 3627 broad.mit.edu 37 4 76943590 76943590 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:76943590C>G ENST00000306602.1 - 3 272 c.207G>C c.(205-207)aaG>aaC p.K69N ART3_ENST00000341029.5_Intron NM_001565.3 NP_001556.2 P02778 CXL10_HUMAN chemokine (C-X-C motif) ligand 10 69 blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity kidney(1)|large_intestine(1)|lung(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTTCTCACCCTTCTTTTTCA 0.383000 26 86 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220779 55220779 + RNA SNP C C T rs28394351 by1000genomes TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:55220779C>T ENST00000413439.1 + 0 808 TGATGTGGGACGCGTGAGCCC 0.602000 8 31 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36934523 36934523 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:36934523C>T ENST00000310758.4 - 17 2184 c.1537G>A c.(1537-1539)Gag>Aag p.E513K ELMO1_ENST00000396040.2_Missense_Mutation_p.E33K|ELMO1_ENST00000396045.3_Missense_Mutation_p.E33K|ELMO1_ENST00000341056.3_Missense_Mutation_p.E215K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E513K|ELMO1_ENST00000442504.1_Missense_Mutation_p.E513K NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 513 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTCAGGATCTCAGTGTAGCTC 0.488000 9 82 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69749992 69749992 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:69749992C>G ENST00000395198.3 - 14 1856 c.1609G>C c.(1609-1611)Gaa>Caa p.E537Q HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.E427Q|HERC4_ENST00000373700.4_Missense_Mutation_p.E537Q|HERC4_ENST00000412272.2_Missense_Mutation_p.E537Q NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 537 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 GGTGCCTTTTCTAGGTTCACA 0.338000 11 71 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132937929 132937929 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:132937929C>G ENST00000253861.4 + 1 101 c.72C>G c.(70-72)ctC>ctG p.L24L EXOC4_ENST00000393161.2_Silent_p.L24L NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 24 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CGGGGCTGCTCATCTCTGTGA 0.627000 4 72 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183201894 183201894 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:183201894C>G ENST00000264144.4 + 14 2187 c.2122C>G c.(2122-2124)Ctg>Gtg p.L708V LAMC2_ENST00000493293.1_Missense_Mutation_p.L708V NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 708 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AGTTCGGGCTCTGGGAAGTCA 0.542000 26 170 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80851438 80851438 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:80851438C>G ENST00000424347.2 + 1 461 c.172C>G c.(172-174)Ctg>Gtg p.L58V CEP78_ENST00000415759.2_Missense_Mutation_p.L58V|CEP78_ENST00000277082.5_Missense_Mutation_p.L58V|CEP78_ENST00000376597.4_Missense_Mutation_p.L58V|CEP78_ENST00000376598.2_Missense_Mutation_p.L58V Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 58 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 CTGGGCGCCTCTGCTGAGCAC 0.652000 4 13 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413540 26413540 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:26413540G>A ENST00000289361.6 + 10 1530 c.1162G>A c.(1162-1164)Gag>Aag p.E388K BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 388 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TCTCGGCTGTGAGAGCTTCAT 0.512000 26 155 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703937 7703937 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:7703937C>A ENST00000340209.4 + 9 1190 c.893C>A c.(892-894)cCg>cAg p.P298Q RBFOX1_ENST00000355637.4_Missense_Mutation_p.P313Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P310Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P293Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P336Q|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P293Q|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P313Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P313Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P266Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P250Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P336Q Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 293 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 cccccgATCCCGGCCTACGGC 0.741000 9 16 0.00448238 0.00461275 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158627389 158627389 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:158627389G>T ENST00000368148.3 - 19 2863 c.2683C>A c.(2683-2685)Ctt>Att p.L895I SPTA1_ENST00000368147.3_Missense_Mutation_p.L895I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 895 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTGGCTTCAAGATCATTTTGT 0.468000 41 259 1.15505e-17 1.44966e-17 1 1 0 GRIN3A 116443 broad.mit.edu 37 9 104449474 104449474 + Silent SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:104449474A>T ENST00000361820.3 - 2 1308 c.708T>A c.(706-708)ctT>ctA p.L236L NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 236 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGTAGGTGAAGGGGATTCT 0.353000 25 89 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22906869 22906869 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:22906869C>A ENST00000400546.1 + 17 2543 c.2294C>A c.(2293-2295)tCa>tAa p.S765* NCAM2_ENST00000284894.7_Nonsense_Mutation_p.S623* NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 765 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAAGATGGATCAAAAGAACCA 0.363000 12 52 5.50884e-06 5.94059e-06 1 1 0 LOC643733 643733 broad.mit.edu 37 11 104776315 104776315 + RNA SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:104776315C>T ENST00000532510.1 - 0 3117 ATGCCTTGGGCTATGACCTTC 0.383000 7 39 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790583 41790583 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:41790583C>T ENST00000396930.3 - 18 5698 c.5155G>A c.(5155-5157)Gag>Aag p.E1719K KAT6A_ENST00000406337.1_Missense_Mutation_p.E1719K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1719K NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1719 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCTGGTATCTCCATGATCATA 0.547000 7 106 0 0 1 0 0 XKR8 55113 broad.mit.edu 37 1 28290149 28290149 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:28290149G>C ENST00000373884.5 + 2 1043 c.435G>C c.(433-435)caG>caC p.Q145H XKR8_ENST00000481387.1_3'UTR NM_018053.2 NP_060523.2 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related family, member 8 145 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) CGGCACCACAGCTCACGCTGG 0.627000 4 12 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28508385 28508385 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:28508385G>C ENST00000564831.1 + 2 2056 c.2023G>C c.(2023-2025)Gag>Cag p.E675Q APOBR_ENST00000328423.5_Missense_Mutation_p.E666Q|APOBR_ENST00000431282.1_Missense_Mutation_p.E666Q NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 666 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 AGAAGTCCCAGAGGCAGGCGG 0.647000 3 13 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75929290 75929290 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:75929290G>A ENST00000262207.4 + 9 1406 c.938G>A c.(937-939)tGt>tAt p.C313Y CRISPLD1_ENST00000523524.1_Missense_Mutation_p.C125Y|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.C127Y NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 313 LCCL 1. extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) AGGTACGAATGTCCTGCTGGC 0.274000 12 36 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210970944 210970944 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:210970944G>C ENST00000367007.4 - 9 1909 c.1740C>G c.(1738-1740)ctC>ctG p.L580L KCNH1_ENST00000271751.4_Silent_p.L607L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 607 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CATGGTAGATGAGGTCCCCTG 0.602000 17 132 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84267185 84267185 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:84267185G>A ENST00000376499.3 - 6 1380 c.316C>T c.(316-318)Cag>Tag p.Q106* TLE1_ENST00000376463.1_Nonsense_Mutation_p.Q50*|TLE1_ENST00000376472.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 106 Gln-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TCAACAGCCTGGGCCACCTGT 0.458000 37 129 0 0 1 0 0 HDGF 3068 broad.mit.edu 37 1 156721201 156721201 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:156721201C>T ENST00000357325.5 - 1 335 c.21G>A c.(19-21)caG>caA p.Q7Q HDGF_ENST00000537739.1_Silent_p.Q7Q|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368209.5_Intron|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Intron NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 7 cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) TGTACTCCTTCTGCCGGTTGG 0.741000 7 40 0 0 1 0 0 PTPMT1 114971 broad.mit.edu 37 11 47593084 47593084 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:47593084A>T ENST00000326656.8 + 3 341 c.317A>T c.(316-318)cAc>cTc p.H106L PTPMT1_ENST00000426530.2_Silent_p.P142P|PTPMT1_ENST00000326674.9_Missense_Mutation_p.H170L|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 170 inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 6 TCATACATCCACATCAGGCCT 0.478000 25 79 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38936185 38936185 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:38936185C>G ENST00000302328.3 - 15 2872 c.2674G>C c.(2674-2676)Gag>Cag p.E892Q SCN11A_ENST00000444237.2_Missense_Mutation_p.E892Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E892Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.E892Q NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 892 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCCTGGGTCTCTGAGCCCCTT 0.522000 24 106 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113702250 113702250 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:113702250C>A ENST00000297405.5 - 14 2246 c.2002G>T c.(2002-2004)Ggt>Tgt p.G668C CSMD3_ENST00000455883.2_Missense_Mutation_p.G564C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G628C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G668C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 668 Sushi 3. 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 AAGGGTGTACCAGGATCACCA 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 160 4.87955e-14 5.99258e-14 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25310227 25310227 + RNA SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:25310227G>A ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA TGAACAAAATGAGTGAAAACT 0.463000 13 219 0 0 1 0 0 ELF2 1998 broad.mit.edu 37 4 139981552 139981552 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:139981552G>A ENST00000394235.2 - 9 1549 c.1047C>T c.(1045-1047)atC>atT p.I349I ELF2_ENST00000358635.3_Silent_p.I301I|ELF2_ENST00000379550.1_Silent_p.I361I|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000379549.2_Silent_p.I272I|ELF2_ENST00000265495.4_Silent_p.I349I|ELF2_ENST00000510408.1_Silent_p.I289I NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 361 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) CAGGGGAAGTGATATTCACAA 0.473000 18 42 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235346019 235346019 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:235346019C>T ENST00000264183.3 - 20 2712 c.2215G>A c.(2215-2217)Gat>Aat p.D739N ARID4B_ENST00000349213.3_Missense_Mutation_p.D653N|ARID4B_ENST00000366603.2_Missense_Mutation_p.D739N NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 739 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GTCAAATGATCAATCTTAGAT 0.363000 13 105 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380629 56380629 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:56380629G>A ENST00000526538.1 - 1 349 c.350C>T c.(349-351)tCa>tTa p.S117L NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 CAATGCCATTGAAGCAAGGAT 0.463000 8 88 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42037474 42037474 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:42037474C>A ENST00000220809.4 - 12 1589 c.1333G>T c.(1333-1335)Gag>Tag p.E445* PLAT_ENST00000519510.1_Nonsense_Mutation_p.E382*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.E319*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.E445*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.E399*|PLAT_ENST00000270189.6_Silent_p.V275V|PLAT_ENST00000524009.1_Nonsense_Mutation_p.E356* NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 445 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCGGAGAGCTCACACTCCGTC 0.657000 6 18 0.00198382 0.00205863 1 1 0 LAMA1 284217 broad.mit.edu 37 18 6964673 6964673 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:6964673G>A ENST00000389658.3 - 51 7418 c.7325C>T c.(7324-7326)tCa>tTa p.S2442L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2442 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACAACTCTTGACCTTGGTAA 0.448000 5 106 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171549011 171549011 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:171549011G>A ENST00000367742.3 + 28 7559 c.7317G>A c.(7315-7317)ctG>ctA p.L2439L PRRC2C_ENST00000392078.3_Silent_p.L2439L|PRRC2C_ENST00000426496.2_Silent_p.L2372L|PRRC2C_ENST00000338920.4_Silent_p.L2437L Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2437 Gln-rich. protein C-terminus binding ATGCACCACTGCAAGGGCAGC 0.443000 12 60 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120629782 120629782 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:120629782G>A ENST00000310396.5 + 2 574 c.107G>A c.(106-108)cGa>cAa p.R36Q CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.R36Q|CPED1_ENST00000450913.2_Missense_Mutation_p.R36Q NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 CTGACCCTCCGAGGGTCGAGG 0.577000 7 115 0 0 1 0 0 RRP36 88745 broad.mit.edu 37 6 42995194 42995194 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:42995194C>T ENST00000244496.5 + 6 632 c.622C>T c.(622-624)Cgg>Tgg p.R208W NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 208 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 GCAGGGCCATCGGCCATACTT 0.572000 22 91 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976345 38976345 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:38976345C>G ENST00000355481.4 + 34 5181 c.5050C>G c.(5050-5052)Ctg>Gtg p.L1684V RYR1_ENST00000359596.3_Missense_Mutation_p.L1684V|RYR1_ENST00000360985.3_Missense_Mutation_p.L1684V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1684 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCGCACGCTCTGTGCAGCCA 0.672000 21 58 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38640801 38640801 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:38640801T>A ENST00000254051.6 - 6 1594 c.1436A>T c.(1435-1437)tAc>tTc p.Y479F NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 479 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GGAGCCTCGGTATGAAGAGCT 0.587000 12 50 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57877218 57877218 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:57877218G>A ENST00000381227.1 + 14 2165 c.1752G>A c.(1750-1752)atG>atA p.M584I POLR2B_ENST00000431623.2_Missense_Mutation_p.M509I|POLR2B_ENST00000314595.5_Missense_Mutation_p.M584I|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000441246.2_Missense_Mutation_p.M577I P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 584 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AACAACTTATGAACACCCTAA 0.368000 5 71 0 0 1 0 0 SYF2 25949 broad.mit.edu 37 1 25551510 25551510 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:25551510G>A ENST00000236273.4 - 6 574 c.549C>T c.(547-549)gtC>gtT p.V183V SYF2_ENST00000354361.3_Silent_p.V141V NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 183 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) CCAGATCTATGACCATCCTGT 0.398000 20 91 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91406639 91406639 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:91406639T>A ENST00000370440.1 - 3 489 c.272A>T c.(271-273)cAg>cTg p.Q91L ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q91L|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TAGACTAGACTGGCCTCCACT 0.403000 25 101 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 521094 521094 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:521094G>A ENST00000239830.4 + 4 399 c.220G>A c.(220-222)Gag>Aag p.E74K CCDC77_ENST00000540180.1_Missense_Mutation_p.E42K|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.E42K|CCDC77_ENST00000422000.1_Missense_Mutation_p.E42K NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 74 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) GGCAGAAAATGAGGACTTGCT 0.453000 7 91 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109526005 109526005 + Missense_Mutation SNP T T G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:109526005T>G ENST00000357672.3 - 10 2285 c.1910A>C c.(1909-1911)tAc>tCc p.Y637S WDR47_ENST00000400794.3_Missense_Mutation_p.Y673S|WDR47_ENST00000369962.3_Missense_Mutation_p.Y665S|WDR47_ENST00000369965.4_Missense_Mutation_p.Y666S|WDR47_ENST00000361054.3_Missense_Mutation_p.Y637S O94967 WDR47_HUMAN WD repeat domain 47 665 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) GGCCACACAGTAAATGGATCC 0.398000 17 63 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62758608 62758608 + RNA SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:62758608G>A ENST00000400873.3 - 0 1337 NR_026899.1 CTCTCCTGCTGGAGTCAGACA 0.418000 22 67 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61564032 61564032 + Nonsense_Mutation SNP C C T rs139263584 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:61564032C>T ENST00000577647.1 + 3 496 c.451C>T c.(451-453)Cag>Tag p.Q151* ACE_ENST00000413513.3_Nonsense_Mutation_p.Q151*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Q151*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Q725*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Q151*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Q725*|ACE_ENST00000421982.2_Nonsense_Mutation_p.Q35* P12821 ACE_HUMAN angiotensin I converting enzyme 725 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AAAGAAGGTTCAGGACCTAGA 0.567000 10 53 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43333177 43333177 + Splice_Site SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:43333177C>A ENST00000361428.2 - 2 478 c.399_splice c.e2-1 p.R134_splice ZNF318_ENST00000318149.3_Splice_Site_p.R134_splice NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 134 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGGAGAGCGTCTCTACAAAAG 0.458000 19 58 1.56452e-12 1.89015e-12 1 1 0 MS4A14 84689 broad.mit.edu 37 11 60184183 60184183 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:60184183C>A ENST00000300187.6 + 5 2019 c.1742C>A c.(1741-1743)tCt>tAt p.S581Y MS4A14_ENST00000531787.1_Missense_Mutation_p.S469Y|MS4A14_ENST00000395005.2_Missense_Mutation_p.S564Y|MS4A14_ENST00000531783.1_Missense_Mutation_p.S614Y NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 581 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 GAAGGACAATCTAAAGATGGA 0.448000 9 37 0.0581538 0.0587069 1 1 0 EXTL2 2135 broad.mit.edu 37 1 101343406 101343406 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:101343406C>T ENST00000370114.3 - 3 1495 c.59G>A c.(58-60)cGa>cAa p.R20Q EXTL2_ENST00000370113.3_Missense_Mutation_p.R20Q|EXTL2_ENST00000535414.1_Missense_Mutation_p.R7Q NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 20 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) CAAAGATAATCGAAGCACTCG 0.438000 7 38 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108479211 108479211 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:108479211G>A ENST00000408999.3 + 16 2356 c.2279G>A c.(2278-2280)gGa>gAa p.G760E RGPD4_ENST00000354986.4_Missense_Mutation_p.G760E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 760 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TATAGTGAAGGAGATCCTCTC 0.368000 25 133 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102960065 102960065 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:102960065C>T ENST00000379263.3 - 12 1483 c.1233G>A c.(1231-1233)ttG>ttA p.L411L PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 411 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 CCTGTTTTTCCAAAGCAGCCT 0.353000 5 67 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72190168 72190168 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:72190168G>A ENST00000356056.5 - 25 5148 c.4676C>T c.(4675-4677)tCt>tTt p.S1559F MYO9A_ENST00000424560.1_Missense_Mutation_p.S1559F|MYO9A_ENST00000564571.1_Missense_Mutation_p.S1559F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S1540F|MYO9A_ENST00000566885.1_Missense_Mutation_p.S1179F NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1559 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCTGAGGAGAGAGGATGGCCT 0.443000 5 45 0 0 1 0 0 PHLDB3 653583 broad.mit.edu 37 19 44001363 44001363 + Silent SNP C C T rs150671965 byFrequency TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:44001363C>T ENST00000292140.5 - 6 1092 c.732G>A c.(730-732)gaG>gaA p.E244E PHLDB3_ENST00000599242.1_Silent_p.E244E NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 244 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) CCTGCCGGCTCTCCCGCTCCA 0.622000 11 37 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134889090 134889090 + Nonsense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:134889090G>C ENST00000354475.4 - 6 852 c.821C>G c.(820-822)tCa>tGa p.S274* WDR91_ENST00000344400.5_Nonsense_Mutation_p.S274*|WDR91_ENST00000423565.1_Nonsense_Mutation_p.S239*|WDR91_ENST00000485942.1_5'UTR NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 274 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CGACAACCTTGAGGGGCTCTT 0.587000 14 41 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52776281 52776281 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:52776281G>A ENST00000257951.3 - 4 918 c.852C>T c.(850-852)ctC>ctT p.L284L RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 284 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CGTTGGCCTCGAGATCAGACT 0.458000 17 71 0 0 1 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83832755 83832755 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:83832755C>T ENST00000299633.4 - 2 760 c.157G>A c.(157-159)Gaa>Aaa p.E53K NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 53 PWWP. cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 ACTTACGTTTCATGGGTGCCA 0.383000 22 104 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77407481 77407481 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:77407481C>T ENST00000560626.2 - 7 4733 c.4258G>A c.(4258-4260)Gag>Aag p.E1420K PEAK1_ENST00000312493.4_Missense_Mutation_p.E1420K Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1420 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCTTCAGTCTCTTCCATGTCA 0.498000 21 133 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671615 34671615 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:34671615G>A ENST00000374789.3 - 9 1577 c.1252C>T c.(1252-1254)Cac>Tac p.H418Y PARD3_ENST00000374773.1_Missense_Mutation_p.H418Y|PARD3_ENST00000374776.1_Missense_Mutation_p.H418Y|PARD3_ENST00000350537.4_Missense_Mutation_p.H418Y|PARD3_ENST00000545693.1_Missense_Mutation_p.H418Y|PARD3_ENST00000545260.1_Missense_Mutation_p.H374Y|PARD3_ENST00000374790.3_Missense_Mutation_p.H374Y|PARD3_ENST00000374794.3_Missense_Mutation_p.H374Y|PARD3_ENST00000374788.3_Missense_Mutation_p.H418Y|PARD3_ENST00000340077.5_Missense_Mutation_p.H418Y|PARD3_ENST00000544292.1_Missense_Mutation_p.H148Y|PARD3_ENST00000346874.4_Missense_Mutation_p.H418Y NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 418 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AGTCTTGAGTGAGAGTCTATC 0.537000 14 64 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154875961 154875961 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:154875961G>C ENST00000287907.2 + 2 1414 c.838G>C c.(838-840)Gag>Cag p.E280Q HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 280 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GGAGCAGAAGGAGCAGCGGGC 0.627000 21 62 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75625800 75625800 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:75625800C>A ENST00000248600.1 - 9 1270 c.928G>T c.(928-930)Gat>Tat p.D310Y STYXL1_ENST00000359697.3_Missense_Mutation_p.D310Y|STYXL1_ENST00000431581.1_Missense_Mutation_p.D310Y|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.D214Y NM_016086.2 NP_057170.1 Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 310 intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 TAGAGCGGATCCATGATGTTT 0.527000 17 45 3.32936e-07 3.69763e-07 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48755124 48755124 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:48755124C>T ENST00000285238.8 + 24 3478 c.3398C>T c.(3397-3399)tCa>tTa p.S1133L NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1133 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCAGCCACATCACGGCAACTG 0.562000 50 207 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4731731 4731731 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:4731731G>T ENST00000399577.5 + 13 1405 c.1312G>T c.(1312-1314)Gac>Tac p.D438Y MGRN1_ENST00000588994.1_Missense_Mutation_p.D416Y|MGRN1_ENST00000415496.1_Missense_Mutation_p.D417Y|MGRN1_ENST00000262370.7_Missense_Mutation_p.D438Y|MGRN1_ENST00000586183.1_Missense_Mutation_p.D416Y NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 438 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CCACATCCTGGACAGCAGCCG 0.662000 14 37 7.93312e-07 8.74527e-07 1 1 0 NLRP9 338321 broad.mit.edu 37 19 56223264 56223264 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:56223264C>T ENST00000332836.2 - 8 2772 c.2745G>A c.(2743-2745)ctG>ctA p.L915L NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 915 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCAGGCTCCTCAGTGTTTTGC 0.587000 5 59 0 0 1 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673515 22673515 + RNA SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:22673515C>G ENST00000390289.2 + 0 313 LL22NC03-80A10.6_ENST00000426066.1_RNA CTGCGTATCTCTGGGCTCCAG 0.522000 37 187 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99093239 99093239 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:99093239C>G ENST00000357310.1 + 17 2935 c.2358C>G c.(2356-2358)ttC>ttG p.F786L APAF1_ENST00000359972.2_Missense_Mutation_p.F775L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.F786L|APAF1_ENST00000550527.1_Missense_Mutation_p.F775L|APAF1_ENST00000549007.1_Missense_Mutation_p.F786L|APAF1_ENST00000551964.1_Missense_Mutation_p.F786L|APAF1_ENST00000339433.3_Missense_Mutation_p.F786L|APAF1_ENST00000333991.1_Intron NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 786 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TGAAACAGTTCTTCCTAAATT 0.363000 6 61 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541004 55541004 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:55541004C>G ENST00000361760.1 + 1 91 c.91C>G c.(91-93)Ctg>Gtg p.L31V NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L31M(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TCCACTCTTTCTGGTTTTCTT 0.388000 44 145 0 0 1 0 0 PMP2 5375 broad.mit.edu 37 8 82359623 82359623 + Translation_Start_Site SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:82359623G>A ENST00000256103.2 - 0 135 RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_De_novo_Start_InFrame NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) GTTGCTCATCGTGATGGGTGA 0.438000 22 69 0 0 1 0 0 IL17F 112744 broad.mit.edu 37 6 52103659 52103659 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:52103659G>A ENST00000336123.4 - 2 230 c.123C>T c.(121-123)ttC>ttT p.F41F NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 41 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) CAGGCTTTTGGAAAAAAGTAT 0.488000 19 69 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685647 108685647 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:108685647T>C ENST00000312143.7 - 3 1456 c.1093A>G c.(1093-1095)Atg>Gtg p.M365V CMKLR1_ENST00000412676.1_Missense_Mutation_p.M365V|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M363V|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M365V|CMKLR1_ENST00000397688.2_Missense_Mutation_p.M363V NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 365 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CTCTCATTCATAGAAGTCCTC 0.488000 28 83 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21789371 21789371 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:21789371G>T ENST00000328843.6 + 54 8801 c.8770G>T c.(8770-8772)Gtt>Ttt p.V2924F DNAH11_ENST00000409508.3_Missense_Mutation_p.V2917F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2924 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGATGCCCAGGTTCTAGATGA 0.448000 Kartagener syndrome 10 62 1.33987e-11 1.59539e-11 1 1 0 ATM 472 broad.mit.edu 37 11 108155180 108155180 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:108155180G>C ENST00000278616.4 + 26 4358 c.3973G>C c.(3973-3975)Gaa>Caa p.E1325Q ATM_ENST00000452508.2_Missense_Mutation_p.E1325Q NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1325 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.V1292_Q1331del(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCTTAAAAGTGAAAACTTATT 0.353000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 11 72 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89849809 89849809 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:89849809G>C ENST00000370456.4 + 10 1719 c.1626G>C c.(1624-1626)ctG>ctC p.L542L GBP6_ENST00000535065.1_Silent_p.L412L NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 542 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AACACCTACTGAGAGAGCAGA 0.537000 5 22 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13182882 13182882 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:13182882G>T ENST00000379350.1 + 6 757 c.628G>T c.(628-630)Gag>Tag p.E210* PHACTR1_ENST00000379345.2_Nonsense_Mutation_p.E65*|PHACTR1_ENST00000332995.7_Nonsense_Mutation_p.E210*|PHACTR1_ENST00000457702.2_Nonsense_Mutation_p.E65* Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 210 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CTGCTCATATGAGGTGCTCCA 0.597000 29 87 6.38683e-12 7.62929e-12 1 1 0 ALDH4A1 8659 broad.mit.edu 37 1 19211985 19211985 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:19211985G>T ENST00000375341.3 - 5 692 c.435C>A c.(433-435)gcC>gcA p.A145A ALDH4A1_ENST00000538839.1_Silent_p.A145A|ALDH4A1_ENST00000538309.1_Silent_p.A85A|ALDH4A1_ENST00000290597.5_Silent_p.A145A|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 145 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) ccATGGTCTTGGCGAGGATCT 0.662000 3 4 0.115264 0.116045 1 1 0 KLK11 11012 broad.mit.edu 37 19 51527441 51527441 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:51527441C>T ENST00000594768.1 - 4 604 c.419G>A c.(418-420)cGc>cAc p.R140H KLK11_ENST00000391804.3_Missense_Mutation_p.R133H|KLK11_ENST00000319720.7_Missense_Mutation_p.R108H|KLK11_ENST00000453757.3_Missense_Mutation_p.R108H|KLK11_ENST00000600362.1_Intron NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 140 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) GATGTCATTGCGGTGGTCTTT 0.612000 14 32 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955104 33955104 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:33955104C>G ENST00000389232.4 + 35 5443 c.5373C>G c.(5371-5373)gtC>gtG p.V1791V RYR3_ENST00000415757.3_Silent_p.V1791V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1791 4 X approximate repeats. 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) AGGCTCCTGTCAAAGGCTTGT 0.547000 55 177 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617477 183617477 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:183617477C>A ENST00000308641.4 - 2 711 c.440G>T c.(439-441)gGc>gTc p.G147V RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 147 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 AAGAGTGATGCCTGGATACGT 0.443000 34 208 8.4185e-14 1.03047e-13 1 1 0 RIF1 55183 broad.mit.edu 37 2 152320185 152320185 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:152320185C>A ENST00000243326.4 + 29 4634 c.4151C>A c.(4150-4152)tCc>tAc p.S1384Y RIF1_ENST00000430328.2_Missense_Mutation_p.S1384Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1384Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S1384Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1384Y Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1384 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATTTGGAATCCAAAGAGAAT 0.363000 25 101 1.33986e-20 1.70174e-20 1 1 0 OR1A2 26189 broad.mit.edu 37 17 3101279 3101279 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:3101279C>A ENST00000381951.1 + 1 467 c.467C>A c.(466-468)gCt>gAt p.A156D NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 AACACCAGTGCTCTCCCCCAC 0.488000 30 90 1.74197e-06 1.90336e-06 1 1 0 GMPR2 51292 broad.mit.edu 37 14 24705212 24705212 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:24705212G>C ENST00000557854.1 + 4 662 c.385G>C c.(385-387)Gag>Cag p.E129Q GMPR2_ENST00000456667.3_Missense_Mutation_p.E83Q|GMPR2_ENST00000399440.2_Missense_Mutation_p.E111Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.E111Q|GMPR2_ENST00000559836.1_Missense_Mutation_p.E111Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.E129Q|GMPR2_ENST00000348719.7_Missense_Mutation_p.E111Q|GMPR2_ENST00000355299.4_Missense_Mutation_p.E111Q|GMPR2_ENST00000420554.2_Missense_Mutation_p.E129Q Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 111 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) TTCTGACTTTGAGCAGCTGGA 0.488000 16 60 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469027 10469027 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:10469027G>A ENST00000382483.3 - 4 2804 c.2581C>T c.(2581-2583)Ccc>Tcc p.P861S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 861 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGGGGGCAGGGCCGCCCCCTG 0.736000 3 6 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320766 79320766 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:79320766C>G ENST00000428286.1 - 8 6547 c.5347G>C c.(5347-5349)Gat>Cat p.D1783H PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2142H Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2142 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGTTCTTCATCTATCTCTGGC 0.488000 9 124 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113547974 113547974 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:113547974C>A ENST00000416899.2 + 11 1856 c.1730C>A c.(1729-1731)gCg>gAg p.A577E MUSK_ENST00000374438.1_Missense_Mutation_p.A101E|MUSK_ENST00000189978.5_Missense_Mutation_p.A585E|MUSK_ENST00000374448.4_Missense_Mutation_p.A585E O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 585 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 GGAGAGGGAGCGTTTGGAAGG 0.423000 14 63 9.31168e-06 1.00269e-05 1 1 0 USH1G 124590 broad.mit.edu 37 17 72915569 72915569 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:72915569C>A ENST00000319642.1 - 2 1544 c.1362G>T c.(1360-1362)ccG>ccT p.P454P NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 454 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) CCTCCAGGGCCGGCGGGCGCT 0.682000 10 32 3.07112e-06 3.33115e-06 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32595897 32595897 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:32595897C>A ENST00000286827.3 - 9 2291 c.1820G>T c.(1819-1821)tGg>tTg p.W607L TIAM1_ENST00000541036.1_Missense_Mutation_p.W607L|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 607 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATTTTGCTCCCAGACAAAGAT 0.423000 16 57 6.94344e-10 8.12438e-10 1 1 0 SH3YL1 26751 broad.mit.edu 37 2 233127 233127 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:233127C>T ENST00000403657.1 - 9 2414 c.219G>A c.(217-219)ttG>ttA p.L73L SH3YL1_ENST00000415006.2_Silent_p.L73L|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000356150.5_Silent_p.L169L|SH3YL1_ENST00000405430.1_Silent_p.L169L|SH3YL1_ENST00000403712.2_Silent_p.L169L|SH3YL1_ENST00000403658.1_Silent_p.L73L Q96HL8 SH3Y1_HUMAN SH3 and SYLF domain containing 1 169 large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) TCCTTTCAATCAAACAGCTCC 0.403000 5 30 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92352717 92352717 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:92352717G>T ENST00000276609.3 + 8 1203 c.964G>T c.(964-966)Gcc>Tcc p.A322S SLC26A7_ENST00000523719.1_Missense_Mutation_p.A322S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.A322S NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 322 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGGCTATGTGGCCTCACTGGC 0.502000 29 78 2.08457e-15 2.59002e-15 1 1 0 F12 2161 broad.mit.edu 37 5 176830358 176830358 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:176830358C>T ENST00000253496.3 - 12 1476 c.1428G>A c.(1426-1428)gcG>gcA p.A476A F12_ENST00000514943.1_5'UTR NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 476 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGACAGGAGCGCGCAGCTGC 0.716000 Hereditary Angioedema 5 44 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191888366 191888366 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:191888366C>T ENST00000454309.2 - 4 1319 c.494G>A c.(493-495)cGc>cAc p.R165H FGF12_ENST00000430714.1_Missense_Mutation_p.R66H|FGF12_ENST00000450716.1_Missense_Mutation_p.R103H|FGF12_ENST00000264730.3_Missense_Mutation_p.R103H|FGF12_ENST00000445105.1_Missense_Mutation_p.R103H NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 165 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTCTTGCTGGCGGTACAGTGT 0.393000 14 243 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380719 114380719 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:114380719C>A ENST00000359785.5 - 13 1438 c.1303G>T c.(1303-1305)Gga>Tga p.G435* PTPN22_ENST00000420377.2_Nonsense_Mutation_p.G435*|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.G380*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.G308*|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Nonsense_Mutation_p.G191* NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 435 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATATCTTCCTGCTGCATTT 0.398000 21 70 8.10497e-08 9.1659e-08 1 1 0 CCDC105 126402 broad.mit.edu 37 19 15124540 15124540 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:15124540G>A ENST00000292574.3 + 2 709 c.627G>A c.(625-627)atG>atA p.M209I NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 209 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 TGAAAAGCATGAAGAGGAAAA 0.498000 12 25 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247039463 247039463 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:247039463C>G ENST00000366508.1 - 24 3205 c.3069G>C c.(3067-3069)gaG>gaC p.E1023D AHCTF1_ENST00000391829.2_Missense_Mutation_p.E988D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E997D|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 988 cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCAGTGATCTCTCCCGCAAAC 0.348000 8 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477781 179477781 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:179477781C>T ENST00000589042.1 - 265 49891 c.49667G>A c.(49666-49668)gGa>gAa p.G16556E TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14915E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13988E|TTN_ENST00000342175.6_Missense_Mutation_p.G7683E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7616E|TTN_ENST00000460472.2_Missense_Mutation_p.G7491E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14915 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTGGTTTTCCAGGGGGCCA 0.363000 23 47 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77386716 77386716 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:77386716G>A ENST00000451710.3 - 25 3676 c.3439C>T c.(3439-3441)Cat>Tat p.H1147Y TRPM6_ENST00000361255.3_Missense_Mutation_p.H1142Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.H1147Y|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1142Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.H1147Y|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1147 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TCAAAATCATGAAGTTTTTTC 0.388000 13 69 0 0 1 0 0 ATG4B 23192 broad.mit.edu 37 2 242610823 242610823 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:242610823G>A ENST00000405546.3 + 12 1613 c.1111G>A c.(1111-1113)Gag>Aag p.E371K ATG4B_ENST00000396411.3_Intron|ATG4B_ENST00000474739.2_Intron|ATG4B_ENST00000404914.3_Intron|ATG4B_ENST00000402096.1_Missense_Mutation_p.E297K Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 371 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) GTCCCTAGGTGAGAGCTGCCA 0.602000 4 21 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38973702 38973702 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:38973702C>A ENST00000355481.4 + 32 4787 c.4656C>A c.(4654-4656)ttC>ttA p.F1552L RYR1_ENST00000359596.3_Missense_Mutation_p.F1552L|RYR1_ENST00000360985.3_Missense_Mutation_p.F1552L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1552 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGCCGTCTTCGTCCTGCCCA 0.592000 22 87 3.08376e-08 3.52498e-08 1 1 0 F13B 2165 broad.mit.edu 37 1 197024868 197024868 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:197024868C>A ENST00000367412.1 - 8 1374 c.1331G>T c.(1330-1332)tGg>tTg p.W444L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 444 Sushi 7. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TGGGGATGACCATTTTCCTTG 0.363000 20 137 1.28384e-07 1.43227e-07 1 1 0 PPP3CA 5530 broad.mit.edu 37 4 101947147 101947147 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:101947147C>A ENST00000394854.3 - 14 2124 c.1441G>T c.(1441-1443)Gag>Tag p.E481* PPP3CA_ENST00000512215.1_Nonsense_Mutation_p.E249*|PPP3CA_ENST00000394853.4_Nonsense_Mutation_p.E471*|PPP3CA_ENST00000523694.2_Nonsense_Mutation_p.E414*|PPP3CA_ENST00000323055.6_Nonsense_Mutation_p.E429*|PPP3CA_ENST00000507176.1_Nonsense_Mutation_p.E383* NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 481 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GGCATCCTCTCATTAATTCGG 0.458000 28 122 1.04121e-07 1.17215e-07 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116426596 116426596 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:116426596C>G ENST00000395715.3 - 7 4117 c.3540G>C c.(3538-3540)gcG>gcC p.A1180A TRPS1_ENST00000220888.5_Silent_p.A1167A|TRPS1_ENST00000520276.1_Silent_p.A1171A|TRPS1_ENST00000519076.1_Silent_p.A921A NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1167 Mediates interaction with RNF4 (By similarity).|Transcriptional repressor domain (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AATGCTTGATCGCCAAATCTA 0.448000 Langer-Giedion syndrome 7 33 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64166700 64166700 + Splice_Site SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:64166700A>T ENST00000395391.1 + 4 1394 c.e4-1 ZNF107_ENST00000344930.3_Splice_Site|ZNF107_ENST00000423627.1_Splice_Site Q9UII5 ZN107_HUMAN zinc finger protein 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TATTTCTTTCAGTAATGTCTT 0.308000 9 62 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72256022 72256022 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:72256022G>A ENST00000305425.4 - 2 1297 c.875C>T c.(874-876)cCt>cTt p.P292L DACH1_ENST00000313174.7_Missense_Mutation_p.P292L|DACH1_ENST00000354591.4_Missense_Mutation_p.P292L|DACH1_ENST00000359684.2_Missense_Mutation_p.P292L NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 290 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGTCCTCTTAGGAGGCCTTCC 0.413000 12 40 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30492319 30492319 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:30492319C>T ENST00000222823.4 - 6 1239 c.714G>A c.(712-714)atG>atA p.M238I NOD1_ENST00000423334.2_Intron NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 238 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AGCAGCTGAACATGCGGCAGC 0.602000 22 73 0 0 1 0 0 GLT1D1 144423 broad.mit.edu 37 12 129442186 129442186 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:129442186C>T ENST00000442111.2 + 11 965 c.877C>T c.(877-879)Cag>Tag p.Q293* GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.Q298*|GLT1D1_ENST00000542193.1_Nonsense_Mutation_p.Q210*|GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.Q213* Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 293 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TTCCAATCCTCAGGTAAAGAA 0.443000 4 46 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195492285 195492285 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:195492285C>T ENST00000463781.3 - 9 14113 c.13654G>A c.(13654-13656)Gaa>Aaa p.E4552K MUC4_ENST00000475231.1_Missense_Mutation_p.E4500K|MUC4_ENST00000349607.4_Missense_Mutation_p.E265K|MUC4_ENST00000346145.4_Missense_Mutation_p.E316K NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1309 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGCCTTTCTTCCCGGTGTAGC 0.642000 7 45 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16486496 16486496 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:16486496C>G ENST00000354981.2 - 9 1028 c.871G>C c.(871-873)Gat>Cat p.D291H KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.D291H|KIF16B_ENST00000408042.1_Missense_Mutation_p.D291H NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 291 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGAGATAAATCAGCTATGAAA 0.358000 15 34 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676327 113676327 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:113676327G>T ENST00000263326.3 + 5 640 c.598G>T c.(598-600)Gaa>Taa p.E200* IL37_ENST00000353225.3_Nonsense_Mutation_p.E160*|IL37_ENST00000349806.3_Nonsense_Mutation_p.E139*|IL37_ENST00000352179.3_Nonsense_Mutation_p.E179*|IL37_ENST00000311328.2_Nonsense_Mutation_p.E174* NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 200 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 GAAACACATTGAATTTTCATT 0.478000 9 41 2.17888e-05 2.32936e-05 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207027515 207027515 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:207027515G>A ENST00000392222.2 + 6 961 c.586G>A c.(586-588)Gat>Aat p.D196N EEF1B2_ENST00000236957.5_Missense_Mutation_p.D196N|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D196N NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 196 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGTTGAAGATGATAAAGTTGG 0.378000 4 72 0 0 1 0 0 CUTA 51596 broad.mit.edu 37 6 33384897 33384897 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:33384897C>A ENST00000374500.5 - 4 528 c.397G>T c.(397-399)Gag>Tag p.E133* CUTA_ENST00000607266.1_Nonsense_Mutation_p.E91*|CUTA_ENST00000374496.3_Nonsense_Mutation_p.E91*|CUTA_ENST00000488034.1_Nonsense_Mutation_p.E114*|CUTA_ENST00000488478.1_Nonsense_Mutation_p.E114*|CUTA_ENST00000440279.3_Nonsense_Mutation_p.E91*|CUTA_ENST00000494751.1_Nonsense_Mutation_p.E91* NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 114 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 CTGTCTTCCTCGATCTTCCCT 0.512000 14 107 2.62699e-14 3.24767e-14 1 1 0 KLHL31 401265 broad.mit.edu 37 6 53516497 53516497 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:53516497C>T ENST00000370905.3 - 3 1944 c.1804G>A c.(1804-1806)Gag>Aag p.E602K KLHL31_ENST00000407079.1_Missense_Mutation_p.E602K NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 602 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) ACAGTGGCCTCGGGTAGCTCG 0.612000 OREG0017507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 89 0 0 1 0 0 ITPKC 80271 broad.mit.edu 37 19 41223333 41223333 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:41223333C>T ENST00000263370.2 + 1 326 c.293C>T c.(292-294)gCg>gTg p.A98V NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 98 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACTGAGCCCGCGGCAGCTGGC 0.652000 13 36 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237806679 237806679 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:237806679C>T ENST00000366574.2 + 48 7591 c.7274C>T c.(7273-7275)tCc>tTc p.S2425F RYR2_ENST00000360064.6_Missense_Mutation_p.S2423F|RYR2_ENST00000542537.1_Missense_Mutation_p.S2409F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2425 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTTTGAGATCCCTCATTCCC 0.423000 44 166 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 30821873 30821873 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:30821873C>T ENST00000318217.5 - 22 3229 c.2925G>A c.(2923-2925)aaG>aaA p.K975K MYO1D_ENST00000394649.4_Silent_p.K887K NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 975 myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CGGTGCACTTCTTCCCGTGCA 0.607000 6 42 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20413882 20413882 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:20413882G>A ENST00000380338.4 - 5 1248 c.962C>T c.(961-963)tCt>tTt p.S321F MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S318F|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TTTGTCAGCAGAACAAGTGAG 0.373000 T MLL ALL 7 102 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19513101 19513101 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:19513101G>A ENST00000375267.2 - 14 1686 c.1683C>T c.(1681-1683)agC>agT p.S561S UBR4_ENST00000375254.3_Silent_p.S561S|UBR4_ENST00000375226.2_Silent_p.S561S|UBR4_ENST00000375217.2_Silent_p.S561S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 561 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CGGTGGAGGCGCTGGCATCGC 0.522000 10 39 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29834839 29834839 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:29834839C>T ENST00000354373.2 + 1 268 c.59C>T c.(58-60)cCc>cTc p.P20L RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 20 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 AATTTTCTTCCCTTGTGCACT 0.468000 35 122 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231036809 231036809 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:231036809C>T ENST00000258381.6 - 16 1865 c.1788G>A c.(1786-1788)gaG>gaA p.E596E SP110_ENST00000358662.4_Silent_p.E596E NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 596 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) GCATCTGCCTCTCCAGGGTCT 0.522000 13 121 0 0 1 0 0 RAVER2 55225 broad.mit.edu 37 1 65243706 65243706 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:65243706C>T ENST00000294428.3 + 3 795 c.717C>T c.(715-717)ccC>ccT p.P239P RAVER2_ENST00000371072.4_Silent_p.P239P Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 239 RRM 3. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 ATAAACTCCCCAGTGACTACA 0.383000 20 147 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134128465 134128465 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:134128465G>C ENST00000281182.4 + 4 543 c.437G>C c.(436-438)tGc>tCc p.C146S ACAD8_ENST00000543332.1_Missense_Mutation_p.C48S|ACAD8_ENST00000537423.1_Missense_Mutation_p.C69S|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 146 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CACAAATTTTGCCCACCGCTC 0.458000 10 35 0 0 1 0 0 NOXO1 124056 broad.mit.edu 37 16 2030672 2030672 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:2030672G>A ENST00000354249.4 - 3 574 c.205C>T c.(205-207)Ctc>Ttc p.L69F TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.L69F|NOXO1_ENST00000356120.4_Missense_Mutation_p.L70F|NOXO1_ENST00000397280.4_Missense_Mutation_p.L70F NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2 NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 70 PX. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity lung(2) 2 AGCTTTGGGAGAACGCGGTCA 0.667000 8 10 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 621716 621716 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:621716C>A ENST00000588649.2 - 10 2066 c.1982G>T c.(1981-1983)gGt>gTt p.G661V NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 661 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGAAAGCACCAGAGTGCGG 0.682000 6 17 0.00116845 0.0012159 1 1 0 CTSB 1508 broad.mit.edu 37 8 11703277 11703277 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:11703277C>T ENST00000353047.6 - 9 1068 c.815G>A c.(814-816)gGa>gAa p.G272E CTSB_ENST00000533455.1_Missense_Mutation_p.G272E|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.G272E|CTSB_ENST00000531089.1_Missense_Mutation_p.G272E|CTSB_ENST00000434271.1_Missense_Mutation_p.G272E|CTSB_ENST00000453527.2_Missense_Mutation_p.G272E|CTSB_ENST00000345125.3_Missense_Mutation_p.G272E|CTSB_ENST00000530640.2_Missense_Mutation_p.G272E NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 272 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CATCATCTCTCCGGTGACGTG 0.617000 7 31 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87033222 87033222 + Missense_Mutation SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:87033222A>G ENST00000370563.3 + 7 1112 c.1070A>G c.(1069-1071)aAt>aGt p.N357S CLCA4_ENST00000263723.5_Missense_Mutation_p.N70S NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 357 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ACTATTGTAAATAAGCTAATC 0.403000 17 64 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798232 113798232 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:113798232C>A ENST00000375559.3 + 6 608 c.570C>A c.(568-570)agC>agA p.S190R F10_ENST00000375551.3_Missense_Mutation_p.S190R|F10_ENST00000409306.1_Missense_Mutation_p.S190R NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 190 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACCAGCAGCAGCGGGGAGG 0.627000 7 67 0.000157383 0.000166102 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21994145 21994145 + Silent SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:21994145T>C ENST00000579755.1 - 1 478 c.186A>G c.(184-186)agA>agG p.R62R CDKN2A_ENST00000361570.3_Silent_p.R103R|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Silent_p.R62R|CDKN2A_ENST00000470819.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 39 EL -> DV.|L -> P (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(198)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TACCTGGTCTTCTAGGAAGCG 0.607000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 20 0 0 1 0 0 MGAT4B 11282 broad.mit.edu 37 5 179227062 179227062 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:179227062C>T ENST00000337755.5 - 7 1733 c.847G>A c.(847-849)Gat>Aat p.D283N MGAT4B_ENST00000292591.7_Missense_Mutation_p.D268N NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 268 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACGATGTCATCCTCCAGCTGC 0.637000 14 58 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13764992 13764992 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrX:13764992G>C ENST00000380567.1 + 9 1200 c.328G>C c.(328-330)Gaa>Caa p.E110Q OFD1_ENST00000398395.3_Missense_Mutation_p.E250Q|OFD1_ENST00000340096.6_Missense_Mutation_p.E250Q|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.E250Q O75665 OFD1_HUMAN oral-facial-digital syndrome 1 250 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GAATGATTTTGAAAAAGCTTG 0.328000 11 36 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52489697 52489697 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:52489697G>A ENST00000345716.4 + 1 174 c.40G>A c.(40-42)Gag>Aag p.E14K NISCH_ENST00000420808.2_Missense_Mutation_p.E14K|NISCH_ENST00000488380.1_Missense_Mutation_p.E14K|NISCH_ENST00000479054.1_Missense_Mutation_p.E14K NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 14 Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GCGGGAAGCCGAGCCGGCCAA 0.731000 8 17 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185988694 185988694 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:185988694C>T ENST00000271588.4 + 35 5721 c.5492C>T c.(5491-5493)tCa>tTa p.S1831L HMCN1_ENST00000367492.2_Missense_Mutation_p.S1831L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1831 Ig-like C2-type 16. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCAAGTCCTCAGGCCTTTCT 0.418000 24 202 0 0 1 0 0 PSMD13 5719 broad.mit.edu 37 11 251591 251591 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:251591G>A ENST00000532097.1 + 11 1387 c.883G>A c.(883-885)Gaa>Aaa p.E295K PSMD13_ENST00000532025.1_3'UTR|PSMD13_ENST00000431206.2_Missense_Mutation_p.E297K|PSMD13_ENST00000352303.5_Intron NM_002817.3 NP_002808.3 Q9UNM6 PSD13_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 295 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 10 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) CACTTTTGAAGAAATTGCCAA 0.388000 7 64 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1061793 1061793 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:1061793C>T ENST00000263094.6 + 41 5707 c.5476C>T c.(5476-5478)Ctg>Ttg p.L1826L ABCA7_ENST00000435683.2_Silent_p.L1688L|ABCA7_ENST00000433129.1_Silent_p.L1826L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1826 ABC transporter 2. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTTGGGCTGCTGGGTGTGAA 0.572000 11 34 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947556 237947556 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:237947556G>C ENST00000366574.2 + 90 12861 c.12544G>C c.(12544-12546)Gag>Cag p.E4182Q RYR2_ENST00000360064.6_Missense_Mutation_p.E4188Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E4166Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4182 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGAAGGCGGAGAGAAAGAGAA 0.502000 20 150 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180804096 180804096 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:180804096G>T ENST00000367590.4 + 10 1419 c.1221G>T c.(1219-1221)ctG>ctT p.L407L XPR1_ENST00000367589.3_Silent_p.L407L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 407 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CAGTGATACTGATGGACCTGG 0.428000 22 104 2.70639e-06 2.94846e-06 1 1 0 TMEM196 256130 broad.mit.edu 37 7 19765303 19765303 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:19765303G>T ENST00000405844.1 - 3 988 c.293C>A c.(292-294)tCc>tAc p.S98Y TMEM196_ENST00000405764.3_Missense_Mutation_p.S98Y|TMEM196_ENST00000493519.1_Missense_Mutation_p.S30Y|TMEM196_ENST00000433641.1_Missense_Mutation_p.S30Y|TMEM196_ENST00000422233.1_Missense_Mutation_p.S30Y Q5HYL7 TM196_HUMAN transmembrane protein 196 104 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 GTATAGGGAGGAAGTTTTCTT 0.502000 9 88 2.17888e-05 2.32936e-05 1 1 0 KIF14 9928 broad.mit.edu 37 1 200587553 200587553 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:200587553G>A ENST00000367350.4 - 2 737 c.299C>T c.(298-300)tCa>tTa p.S100L NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 100 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 AAGCAAAGATGATTCTTTGTT 0.408000 35 147 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37107915 37107915 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:37107915C>G ENST00000378079.2 - 6 734 c.535G>C c.(535-537)Gag>Cag p.E179Q NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 179 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 CGATGGCACTCAAGTTCATCC 0.398000 13 49 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129304863 129304863 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:129304863C>T ENST00000393239.1 - 5 1961 c.1783G>A c.(1783-1785)Gag>Aag p.E595K PLXND1_ENST00000324093.4_Missense_Mutation_p.E595K Q9Y4D7 PLXD1_HUMAN plexin D1 595 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTGGGGCCCTCGCTGGCACTG 0.657000 33 110 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 23 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 63 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62536486 62536486 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:62536486C>T ENST00000430451.2 + 2 886 c.689C>T c.(688-690)tCg>tTg p.S230L RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.S230L NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 230 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TTCAGCCGTTCGTTGTTGACA 0.483000 10 103 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15961826 15961826 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:15961826T>A ENST00000268712.3 - 38 6226 c.5969A>T c.(5968-5970)cAg>cTg p.Q1990L NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1887L|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q574L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1990 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGATAGGTCTGCAGTTTCTC 0.418000 17 142 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6185633 6185633 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:6185633C>G ENST00000262450.3 - 28 4310 c.4211G>C c.(4210-4212)aGg>aCg p.R1404T CHD5_ENST00000378021.1_Missense_Mutation_p.R261T NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1404 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGGCTTGTCCCTGTCACTCTT 0.642000 3 13 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930564 46930564 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:46930564G>A ENST00000264318.3 - 9 2325 c.1343C>T c.(1342-1344)gCa>gTa p.A448V NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 448 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAGTGCTCTTGCTGCAGATAT 0.463000 24 83 0 0 1 0 0 KDM4D 55693 broad.mit.edu 37 11 94731557 94731557 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:94731557G>C ENST00000335080.5 + 3 1853 c.1021G>C c.(1021-1023)Gac>Cac p.D341H KDM4D_ENST00000536741.1_Missense_Mutation_p.D341H NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 341 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACGTGGGCAAGACCGGGCAGT 0.602000 5 65 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045711 62045711 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:62045711C>T ENST00000435607.1 - 6 784 c.708G>A c.(706-708)ctG>ctA p.L236L SCN4A_ENST00000578147.1_Silent_p.L236L NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 236 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CGATCGTCTTCAGCCCTGACC 0.602000 15 54 0 0 1 0 0 MSANTD3-TMEFF1 100526694 broad.mit.edu 37 9 103271335 103271335 + Nonsense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:103271335C>G ENST00000502978.1 + 3 245 c.245C>G c.(244-246)tCa>tGa p.S82* TMEFF1_ENST00000374879.4_Missense_Mutation_p.Q119E|TMEFF1_ENST00000334943.6_Missense_Mutation_p.Q80E NM_001198812.1 NP_001185741.1 Q8IYR6 TEFF1_HUMAN 0 multicellular organismal development integral to membrane|plasma membrane GGACACTTATCAAAATGAATG 0.363000 13 75 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166854585 166854585 + Missense_Mutation SNP C C A rs121917996 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:166854585C>A ENST00000423058.2 - 23 4456 c.4439G>T c.(4438-4440)gGt>gTt p.G1480V AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1452V|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1480V|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1469V|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 1480 G -> V (in a patient with myoclonic astatic epilepsy; dbSNP:rs121917996). 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) TATGATGACACCAATAAACAG 0.343000 7 80 2.0095e-06 2.19245e-06 1 1 0 FAM194A 131831 broad.mit.edu 37 3 150377805 150377805 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:150377805C>A ENST00000295910.6 - 14 1918 c.1866G>T c.(1864-1866)tgG>tgT p.W622C FAM194A_ENST00000491361.1_Missense_Mutation_p.W476C NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 622 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTAATTTTTCCCAAACCTGGC 0.378000 26 115 4.87955e-14 5.99258e-14 1 1 0 QTRT1 81890 broad.mit.edu 37 19 10812882 10812882 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:10812882G>A ENST00000250237.5 + 3 413 c.403G>A c.(403-405)Gag>Aag p.E135K QTRT1_ENST00000585885.1_3'UTR NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 135 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CGACGGCAATGAGACCCTGCT 0.632000 7 57 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101510536 101510536 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:101510536G>A ENST00000392979.3 + 24 2786 c.2425G>A c.(2425-2427)Gat>Aat p.D809N ANO4_ENST00000299222.9_Missense_Mutation_p.D364N|ANO4_ENST00000550015.1_Missense_Mutation_p.D364N|ANO4_ENST00000392977.3_Missense_Mutation_p.D844N NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 844 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GCCTGAATCTGATGGCAGTGA 0.532000 HNSCC(74;0.22) 38 144 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33639745 33639745 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:33639745C>T ENST00000361680.2 + 5 686 c.608C>T c.(607-609)tCa>tTa p.S203L WDR88_ENST00000355868.3_Missense_Mutation_p.S203L Q6ZMY6 WDR88_HUMAN WD repeat domain 88 203 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TACGTGGTCTCAGGCTTCGAC 0.478000 49 164 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151331058 151331058 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:151331058G>T ENST00000367321.3 + 21 2503 c.2229G>T c.(2227-2229)acG>acT p.T743T MTHFD1L_ENST00000478643.1_3'UTR NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 743 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TAGTGGCAACGGTGCGAGCTC 0.498000 14 45 4.36969e-10 5.12904e-10 1 1 0 SYT7 9066 broad.mit.edu 37 11 61300491 61300491 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:61300491G>A ENST00000263846.4 - 4 648 c.321C>T c.(319-321)ctC>ctT p.L107L SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.L226L|SYT7_ENST00000542836.1_Silent_p.L151L|SYT7_ENST00000539008.1_Silent_p.L390L|SYT7_ENST00000540677.1_Silent_p.L182L|SYT7_ENST00000542670.1_Silent_p.L315L NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 107 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGGAGTTGACGAGGTCTGAGA 0.647000 15 70 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401057 55401057 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:55401057T>A ENST00000355524.3 + 5 702 c.692T>A c.(691-693)aTg>aAg p.M231K FCAR_ENST00000391726.3_Missense_Mutation_p.M123K|FCAR_ENST00000391723.3_Missense_Mutation_p.H194Q|FCAR_ENST00000353758.4_Missense_Mutation_p.M122K|FCAR_ENST00000359272.4_Missense_Mutation_p.M219K|FCAR_ENST00000391725.3_Missense_Mutation_p.M209K|FCAR_ENST00000345937.4_Missense_Mutation_p.M135K|FCAR_ENST00000391724.3_Missense_Mutation_p.M197K|FCAR_ENST00000482092.2_3'UTR NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 231 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TTGATCCGCATGGCCGTGGCA 0.527000 94 365 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2444431 2444431 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:2444431C>T ENST00000325327.3 - 2 434 c.372G>A c.(370-372)ctG>ctA p.L124L LMNB2_ENST00000582871.1_Silent_p.L104L Q03252 LMNB2_HUMAN lamin B2 104 Coil 1B.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTCTGCCCTCAGCTTCCCAA 0.652000 18 26 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82808185 82808185 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:82808185G>A ENST00000265077.3 + 6 1577 c.1012G>A c.(1012-1014)Gat>Aat p.D338N VCAN_ENST00000502527.2_Missense_Mutation_p.D338N|VCAN_ENST00000343200.5_Missense_Mutation_p.D338N|VCAN_ENST00000342785.4_Missense_Mutation_p.D338N|VCAN_ENST00000513984.1_Missense_Mutation_p.D338N|VCAN_ENST00000512590.2_Missense_Mutation_p.D290N NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 338 Link 2. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCCTCCCCCTGATAGCAGATT 0.458000 9 45 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57395228 57395228 + Missense_Mutation SNP G G A rs61737417 byFrequency TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:57395228G>A ENST00000543257.1 - 13 2035 c.1469C>T c.(1468-1470)aCc>aTc p.T490I C8B_ENST00000535057.1_Missense_Mutation_p.T480I|C8B_ENST00000371237.4_Missense_Mutation_p.T542I NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 542 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ATCAATGGGGGTATCTATAAG 0.433000 4 59 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531707 50531707 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:50531707C>G ENST00000374144.3 + 3 1405 c.1117C>G c.(1117-1119)Caa>Gaa p.Q373E C10orf71_ENST00000323868.4_Missense_Mutation_p.Q373E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 373 endometrium(1) 1 ACCTGATTCTCAAGAGAAGCC 0.512000 5 58 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762203 23762203 + Silent SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:23762203A>T ENST00000397312.2 - 2 304 c.30T>A c.(28-30)acT>acA p.T10T ELAVL2_ENST00000544538.1_Silent_p.T10T|ELAVL2_ENST00000380117.1_Silent_p.T10T|ELAVL2_ENST00000223951.6_Silent_p.T10T|ELAVL2_ENST00000380110.4_Silent_p.T39T NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 10 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGTTATTGCAAGTTGGCCCAT 0.403000 57 227 0 0 1 0 0 FADD 8772 broad.mit.edu 37 11 70052393 70052393 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:70052393C>G ENST00000301838.4 + 2 738 c.441C>G c.(439-441)atC>atG p.I147M NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 147 Death. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CACTGAGAATCTGGAAGAACA 0.577000 8 26 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43349359 43349359 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:43349359G>C ENST00000378852.3 + 8 1001 c.876G>C c.(874-876)gaG>gaC p.E292D API5_ENST00000534600.1_Missense_Mutation_p.E292D|API5_ENST00000531273.1_Missense_Mutation_p.E292D|API5_ENST00000420461.2_Missense_Mutation_p.E238D|API5_ENST00000455725.2_Missense_Mutation_p.E281D|API5_ENST00000534695.1_Intron NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 292 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 TGTTGGCGGAGATGAGTTCAT 0.303000 14 52 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71532463 71532463 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:71532463C>T ENST00000370920.3 - 9 1226 c.925G>A c.(925-927)Gaa>Aaa p.E309K ZRANB2_ENST00000477096.1_5'UTR|ZRANB2_ENST00000254821.6_Missense_Mutation_p.E309K|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2-AS1_ENST00000426999.1_RNA NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 309 Required for nuclear targeting. 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 CCAAACCTTTCGGGTGACCGT 0.368000 8 112 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824447 54824447 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:54824447C>T ENST00000243911.2 + 1 660 c.548C>T c.(547-549)tCg>tTg p.S183L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 220 I -> N (associated with susceptibility to obesity; completely lacks signaling in response to agonist stimulation; coexpression of the wild-type and the mutant receptor shows that it does not exert dominant-negative activity on wild- type). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) ATCGTCTACTCGGAGAGCAAA 0.572000 41 106 0 0 1 0 0 ACTR5 79913 broad.mit.edu 37 20 37384544 37384544 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:37384544G>A ENST00000243903.4 + 5 1075 c.1038G>A c.(1036-1038)ctG>ctA p.L346L NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 346 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) ACAAAGCTCTGATAGAGCTGA 0.478000 35 87 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231150529 231150529 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:231150529G>C ENST00000392045.3 + 17 1741 c.1627G>C c.(1627-1629)Gac>Cac p.D543H SP140_ENST00000350136.5_Missense_Mutation_p.D412H|SP140_ENST00000486687.2_Missense_Mutation_p.D467H|SP140_ENST00000417495.3_Missense_Mutation_p.D429H|SP140_ENST00000420434.3_Missense_Mutation_p.D516H|SP140_ENST00000343805.6_Missense_Mutation_p.D483H NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 543 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAATCTGAAAGACCTTTCCAA 0.453000 20 92 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211743 38211743 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:38211743G>A ENST00000379705.3 - 11 3088 c.2231C>T c.(2230-2232)tCt>tTt p.S744F TRPC4_ENST00000358477.2_Missense_Mutation_p.S744F|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.S571F|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.S571F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S749F|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.S679F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 744 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCGGAAACTAGAAATGTCTTG 0.378000 11 59 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512815 68512815 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:68512815T>A ENST00000370981.1 - 4 802 c.166A>T c.(166-168)Aag>Tag p.K56* GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Nonsense_Mutation_p.K56* O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 56 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTCGCCCACTTGTGCAGCAGC 0.582000 36 102 0 0 1 0 0 LRRC23 10233 broad.mit.edu 37 12 7023076 7023076 + Nonsense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:7023076C>G ENST00000429740.1 + 4 512 c.512C>G c.(511-513)tCa>tGa p.S171* LRRC23_ENST00000007969.8_3'UTR|LRRC23_ENST00000323702.5_Missense_Mutation_p.F260L|LRRC23_ENST00000436789.1_Missense_Mutation_p.Q215E|LRRC23_ENST00000443597.2_3'UTR Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 0 NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 13 CGCTGGCCTTCAGACCTGATC 0.537000 24 115 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395012 115395012 + Silent SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:115395012T>A ENST00000393780.3 + 3 759 c.291T>A c.(289-291)gcT>gcA p.A97A GAP43_ENST00000305124.6_Silent_p.A61A NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 61 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) ATGTCCAAGCTGCTGAGGCTG 0.507000 15 56 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179316742 179316742 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:179316742G>A ENST00000367619.3 + 12 1268 c.1125G>A c.(1123-1125)ctG>ctA p.L375L SOAT1_ENST00000540564.1_Silent_p.L317L|SOAT1_ENST00000539888.1_Silent_p.L310L|SOAT1_ENST00000535686.1_Silent_p.L111L NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 375 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TAGGTGTGCTGATTCTCTTCC 0.343000 22 90 0 0 1 0 0 FAM26F 441168 broad.mit.edu 37 6 116784533 116784533 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:116784533C>T ENST00000368605.1 + 3 708 c.613C>T c.(613-615)Ctg>Ttg p.L205L FAM26F_ENST00000368606.3_Silent_p.L33L|RP1-93H18.6_ENST00000476099.1_RNA NM_001010919.1 NP_001010919.1 Q5R3K3 FA26F_HUMAN family with sequence similarity 26, member F 205 integral to membrane large_intestine(2)|lung(1) 3 GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231) AGTTAGTTTTCTGCAGCTGAA 0.388000 37 82 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23913868 23913868 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:23913868G>C ENST00000382298.3 - 10 4735 c.4147C>G c.(4147-4149)Cat>Gat p.H1383D SACS_ENST00000402364.1_Missense_Mutation_p.H633D|SACS_ENST00000382292.3_Missense_Mutation_p.H1383D NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1383 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTTTGCTATGATGTATAGGA 0.348000 31 87 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13902205 13902205 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:13902205G>C ENST00000265104.4 - 13 1791 c.1687C>G c.(1687-1689)Caa>Gaa p.Q563E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 563 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.Q563E(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTGTGTTTTGAATCTTTGCA 0.289000 Kartagener syndrome 3 24 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171250035 171250035 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:171250035C>T ENST00000354841.4 + 5 869 c.738C>T c.(736-738)tcC>tcT p.S246S FMO1_ENST00000367750.3_Silent_p.S246S|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.S183S Q01740 FMO1_HUMAN flavin containing monooxygenase 1 246 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGAGAAATTCCCTCCCAACCC 0.468000 30 126 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11809056 11809056 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:11809056G>C ENST00000262442.3 + 61 11747 c.11679G>C c.(11677-11679)tcG>tcC p.S3893S DNAH9_ENST00000454412.2_Silent_p.S3893S|DNAH9_ENST00000396001.2_Silent_p.S205S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3893 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGAAGAATCGGGACCAGCCA 0.473000 15 52 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51656418 51656418 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:51656418C>T ENST00000317643.6 + 7 1389 c.1320C>T c.(1318-1320)ctC>ctT p.L440L CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000600577.1_3'UTR|SIGLEC7_ENST00000305628.7_Silent_p.L347L NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 440 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ATGCACCCCTCAGCTTTCATA 0.537000 21 84 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103197602 103197602 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:103197602G>T ENST00000424685.2 - 38 5778 c.5619C>A c.(5617-5619)acC>acA p.T1873T RELN_ENST00000343529.5_Silent_p.T1873T|RELN_ENST00000428762.1_Silent_p.T1873T P78509 RELN_HUMAN reelin 1873 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.T1873T(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCTCTCTGGGGTACCTAGGA 0.378000 12 67 1.61879e-10 1.9031e-10 1 1 0 GBGT1 26301 broad.mit.edu 37 9 136029195 136029195 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:136029195C>G ENST00000372040.3 - 7 1124 c.813G>C c.(811-813)agG>agC p.R271S GBGT1_ENST00000372043.3_Missense_Mutation_p.G265A|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.R254S globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) ACTCATATACCCTGGCCACCT 0.592000 29 88 0 0 1 0 0 PPDPF 79144 broad.mit.edu 37 20 62153120 62153120 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:62153120C>G ENST00000370179.3 + 4 429 c.233C>G c.(232-234)tCg>tGg p.S78W PPDPF_ENST00000473620.1_3'UTR|PPDPF_ENST00000370177.1_Missense_Mutation_p.S104W NM_024299.2 NP_077275.1 Q9H3Y8 PPDPF_HUMAN pancreatic progenitor cell differentiation and proliferation factor 78 cell differentiation|multicellular organismal development kidney(1)|lung(2)|ovary(1) 4 GCAGAGCACTCGGAACCTCCC 0.677000 5 35 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62475342 62475342 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:62475342C>G ENST00000541428.1 - 18 1471 c.1311G>C c.(1309-1311)ttG>ttC p.L437F ASPH_ENST00000379454.4_Missense_Mutation_p.L466F NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 466 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) TATCTCCTATCAAGAGGTATC 0.368000 22 99 0 0 1 0 0 ATP5C1 509 broad.mit.edu 37 10 7848938 7848938 + Splice_Site SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:7848938G>A ENST00000356708.7 + 9 971 c.890_splice c.e9-1 p.D298_splice ATP5C1_ENST00000335698.4_Intron|ATP5C1_ENST00000493053.1_3'UTR NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 298 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 AATAACCAGGGATTAATGAAA 0.338000 8 49 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907168 65907168 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:65907168A>T ENST00000321892.4 + 13 3607 c.3546A>T c.(3544-3546)aaA>aaT p.K1182N BPTF_ENST00000424123.3_Missense_Mutation_p.K1043N|BPTF_ENST00000306378.6_Missense_Mutation_p.K1056N|BPTF_ENST00000335221.5_Missense_Mutation_p.K1182N Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1182 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGAAAACAAAATCATCCAAAC 0.363000 10 51 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105187513 105187513 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:105187513C>G ENST00000257700.2 + 5 903 c.672C>G c.(670-672)ctC>ctG p.L224L NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 224 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ATAAAATTCTCAAGGACAAGC 0.373000 8 117 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15850335 15850335 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:15850335C>A ENST00000338282.6 - 14 1718 c.1612G>T c.(1612-1614)Gaa>Taa p.E538* MYH11_ENST00000396324.3_Nonsense_Mutation_p.E545*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.E545*|MYH11_ENST00000300036.5_Nonsense_Mutation_p.E538*|MYH11_ENST00000576790.1_Nonsense_Mutation_p.E538* NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 538 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AACCAGCATTCCTCGTCCAGC 0.572000 T CBFB AML OREG0023636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 41 0.00121646 0.0012641 1 1 0 NOS2 4843 broad.mit.edu 37 17 26105806 26105806 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:26105806C>G ENST00000313735.6 - 11 1424 c.1191G>C c.(1189-1191)agG>agC p.R397S NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 397 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGCCCATTCTCCTGCCCACTT 0.587000 23 70 0 0 1 0 0 AARS 16 broad.mit.edu 37 16 70301626 70301626 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:70301626G>C ENST00000261772.8 - 9 1301 c.1158C>G c.(1156-1158)ctC>ctG p.L386L NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 386 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GCCCTCTGCTGAGAGTCTTGA 0.517000 OREG0023913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 44 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275556 5275556 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:5275556C>A ENST00000380259.2 - 7 1521 c.281G>T c.(280-282)tGt>tTt p.C94F HBG2_ENST00000380252.1_Missense_Mutation_p.C84F|HBG2_ENST00000336906.4_Missense_Mutation_p.C94F hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCTTGTCACAGTGCAGTTC 0.498000 25 126 1.04121e-07 1.17215e-07 1 1 0 SERPINA1 5265 broad.mit.edu 37 14 94849308 94849308 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:94849308G>A ENST00000448921.1 - 4 839 c.267C>T c.(265-267)tcC>tcT p.S89S SERPINA1_ENST00000355814.4_Silent_p.S89S|SERPINA1_ENST00000449399.3_Silent_p.S89S|SERPINA1_ENST00000393088.4_Silent_p.S89S|SERPINA1_ENST00000393087.4_Silent_p.S89S|SERPINA1_ENST00000404814.4_Silent_p.S89S|SERPINA1_ENST00000440909.1_Silent_p.S89S|SERPINA1_ENST00000437397.1_Silent_p.S89S|SERPINA1_ENST00000402629.1_Silent_p.S89S NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 89 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TGGTCCCCAGGGAGAGCATTG 0.547000 7 95 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242267 87242267 + Missense_Mutation SNP T T G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:87242267T>G ENST00000297524.3 - 1 343 c.240A>C c.(238-240)caA>caC p.Q80H SLC7A13_ENST00000419776.2_Missense_Mutation_p.Q80H|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 80 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GAAAATAGTATTGAGCTCCAC 0.493000 11 51 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21926330 21926330 + Missense_Mutation SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:21926330A>G ENST00000240662.2 - 2 566 c.221T>C c.(220-222)gTc>gCc p.V74A NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 74 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GGTAAAGATGACCAGCGTGTG 0.547000 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 78 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30778076 30778076 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:30778076G>T ENST00000324685.6 + 11 1743 c.1308G>T c.(1306-1308)ggG>ggT p.G436G RNF40_ENST00000402121.3_Silent_p.G128G|RNF40_ENST00000563683.1_Silent_p.G396G|RNF40_ENST00000357890.5_Silent_p.G336G NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 436 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) ACGAGCTGGGGCTGCAGAAGA 0.557000 10 35 1.58986e-06 1.74228e-06 1 1 0 A1CF 29974 broad.mit.edu 37 10 52619632 52619632 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:52619632C>G ENST00000282641.2 - 3 256 c.69G>C c.(67-69)ctG>ctC p.L23L A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373993.1_Silent_p.L23L|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395495.1_Silent_p.L23L|A1CF_ENST00000374001.1_Silent_p.L23L|A1CF_ENST00000373997.3_Silent_p.L23L NM_138932.2 NP_620310.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 23 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGCGCTGGACCAGTGCGCGGA 0.483000 9 49 0 0 1 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519721 137519721 + Nonsense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:137519721G>C ENST00000367739.4 - 7 1038 c.917C>G c.(916-918)tCa>tGa p.S306* IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.S278* NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 306 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CGTGATGAGTGATACATATTT 0.388000 5 61 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65035009 65035009 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:65035009G>C ENST00000265465.3 + 3 797 c.266G>C c.(265-267)gGa>gCa p.G89A POLA2_ENST00000541089.1_5'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 89 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GGCCATGCAGGAGCTAGAGAC 0.398000 7 64 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604728 13604728 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:13604728C>A ENST00000040738.5 - 10 3931 c.3796G>T c.(3796-3798)Gct>Tct p.A1266S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1266 DNA binding p.A1266S(1) TCTCCTTGAGCAACATGTTCT 0.408000 12 45 3.07112e-06 3.33115e-06 1 1 0 ZZEF1 23140 broad.mit.edu 37 17 3978714 3978714 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:3978714C>T ENST00000381638.2 - 22 3368 c.3244G>A c.(3244-3246)Gag>Aag p.E1082K NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1082 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TGCCAGGTCTCAACATCCAGC 0.463000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 69 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43308105 43308105 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:43308105C>T ENST00000361428.2 - 10 3708 c.3631G>A c.(3631-3633)Gag>Aag p.E1211K ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1211 Lys-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCTTTCTTCTCCTCCTTTGGT 0.498000 25 197 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41720925 41720925 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:41720925G>T ENST00000318579.4 - 2 992 c.573C>A c.(571-573)gcC>gcA p.A191A MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.A76A|MEOX1_ENST00000549132.1_Intron NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 191 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) AGTTATGATGGGCAAACTCTG 0.612000 3 13 6.4e-05 6.81261e-05 1 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24910189 24910189 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:24910189G>T ENST00000396432.2 - 9 1121 c.635C>A c.(634-636)tCa>tAa p.S212* ARHGAP21_ENST00000320481.6_5'UTR NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 211 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TGCCATGGCTGATGGGGCAGA 0.507000 15 46 1.02788e-11 1.22587e-11 1 1 0 CDH7 1005 broad.mit.edu 37 18 63477170 63477170 + Missense_Mutation SNP C C G rs143932384 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:63477170C>G ENST00000536984.2 + 3 1135 c.441C>G c.(439-441)aaC>aaG p.N147K CDH7_ENST00000397968.2_Missense_Mutation_p.N147K|CDH7_ENST00000323011.3_Missense_Mutation_p.N147K Q9ULB5 CADH7_HUMAN cadherin 7, type 2 147 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N147N(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AGGATATCAACGACAATGAAC 0.507000 32 121 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67686403 67686403 + Splice_Site SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:67686403C>T ENST00000545606.1 + 3 651 c.212_splice c.e3-1 p.L72_splice NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 72 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GTATTACAGTCTTGGTCCTTT 0.333000 5 35 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2105377 2105377 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:2105377G>C ENST00000400921.2 + 11 1461 c.778G>C c.(778-780)Gag>Cag p.E260Q PRKCZ_ENST00000400920.1_Missense_Mutation_p.E260Q|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 443 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CCTCATGTTTGAGATGATGGC 0.627000 OREG0013007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 103 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39487861 39487861 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:39487861C>T ENST00000263881.3 - 29 2518 c.2194G>A c.(2194-2196)Gaa>Aaa p.E732K MAP4K3_ENST00000341681.5_Missense_Mutation_p.E711K|MAP4K3_ENST00000536018.1_Missense_Mutation_p.E285K|MAP4K3_ENST00000437545.1_Missense_Mutation_p.E648K NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 732 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TACTCCTGTTCAGGAACTACC 0.373000 4 45 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459835 142459835 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:142459835G>A ENST00000486171.1 + 4 470 c.453G>A c.(451-453)acG>acA p.T151T PRSS1_ENST00000311737.7_Silent_p.T137T P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 137 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.T137T(2) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACTGGCACGAAGTGCCTCA 0.552000 21 95 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83847154 83847154 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:83847154G>A ENST00000349129.2 + 21 3653 c.3393G>A c.(3391-3393)gtG>gtA p.V1131V DOPEY1_ENST00000369739.3_Silent_p.V1122V|DOPEY1_ENST00000237163.5_Silent_p.V1112V NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1131 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTGAAACCGTGAATGCCCAAG 0.453000 9 55 0 0 1 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119217754 119217754 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:119217754C>T ENST00000494664.1 + 1 376 c.174C>T c.(172-174)ctC>ctT p.L58L TIMMDC1_ENST00000493694.1_Silent_p.L58L NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 58 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 GGGACCGCCTCCGGGAGCTGT 0.612000 22 93 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 624618 624618 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:624618G>C ENST00000321878.5 + 2 703 c.544G>C c.(544-546)Gat>Cat p.D182H PIGQ_ENST00000026218.5_Missense_Mutation_p.D182H|PIGQ_ENST00000409527.2_Missense_Mutation_p.D182H|PIGQ_ENST00000470411.2_Missense_Mutation_p.D182H NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 182 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGACCGCTTTGATGAGGGCCC 0.697000 4 7 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902216 1902216 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:1902216C>G ENST00000358771.4 + 3 764 c.612C>G c.(610-612)agC>agG p.S204R SIRPA_ENST00000356025.3_Missense_Mutation_p.S204R|SIRPA_ENST00000400068.3_Missense_Mutation_p.S204R NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 204 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TAGGAGAGAGCGTGTCCTACA 0.577000 35 127 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143027941 143027941 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:143027941G>T ENST00000343257.2 + 8 1017 c.930G>T c.(928-930)acG>acT p.T310T CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 310 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TTGCAGCCACGTTCAGCGCCT 0.522000 29 74 1.74197e-06 1.90336e-06 1 1 0 NR1I3 9970 broad.mit.edu 37 1 161200682 161200682 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:161200682C>T ENST00000367983.4 - 8 1132 c.838G>A c.(838-840)Gag>Aag p.E280K NR1I3_ENST00000515621.1_Missense_Mutation_p.E205K|NR1I3_ENST00000367985.3_Missense_Mutation_p.E246K|NR1I3_ENST00000512372.1_Missense_Mutation_p.E212K|NR1I3_ENST00000511944.1_Missense_Mutation_p.M137I|NR1I3_ENST00000511676.1_Missense_Mutation_p.E251K|NR1I3_ENST00000511748.1_Missense_Mutation_p.M108I|NR1I3_ENST00000508740.1_Missense_Mutation_p.E256K|NR1I3_ENST00000508387.1_Missense_Mutation_p.M108I|NR1I3_ENST00000506209.1_Missense_Mutation_p.E251K|NR1I3_ENST00000442691.2_Missense_Mutation_p.E284K|NR1I3_ENST00000505005.1_Missense_Mutation_p.E241K|NR1I3_ENST00000504010.1_Missense_Mutation_p.E212K|NR1I3_ENST00000502985.1_Missense_Mutation_p.M137I|NR1I3_ENST00000428574.2_Missense_Mutation_p.E285K|NR1I3_ENST00000367981.3_Missense_Mutation_p.E256K|NR1I3_ENST00000367980.2_Missense_Mutation_p.E289K|NR1I3_ENST00000367982.4_Missense_Mutation_p.E284K|NR1I3_ENST00000367984.4_Missense_Mutation_p.E241K|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000437437.2_Missense_Mutation_p.E251K|NR1I3_ENST00000412844.2_Missense_Mutation_p.E260K|NR1I3_ENST00000367979.2_Missense_Mutation_p.E289K Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 284 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGATCAATCTCATCTCTCTGG 0.612000 11 84 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122774697 122774697 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:122774697G>C ENST00000227349.2 + 3 706 c.409G>C c.(409-411)Gag>Cag p.E137Q C11orf63_ENST00000531316.1_Missense_Mutation_p.E137Q|C11orf63_ENST00000307257.6_Missense_Mutation_p.E137Q NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 137 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GAGTAAGAAGGAGGAAGGGCA 0.517000 40 185 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106851020 106851020 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:106851020G>T ENST00000393603.2 - 21 2690 c.2419C>A c.(2419-2421)Cag>Aag p.Q807K COG5_ENST00000347053.3_Missense_Mutation_p.Q786K|COG5_ENST00000297135.3_Missense_Mutation_p.Q807K NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 786 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TCCAGCCACTGAGAGAAGCGT 0.537000 3 12 0.184627 0.185126 1 1 0 SHANK3 85358 broad.mit.edu 37 22 51137192 51137192 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:51137192G>T ENST00000414786.2 + 12 1758 c.1531G>T c.(1531-1533)Gtg>Ttg p.V511L SHANK3_ENST00000445220.2_Missense_Mutation_p.V526L|SHANK3_ENST00000262795.3_Missense_Mutation_p.V541L F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 541 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GGCCGACTGCGTGGAGGAAGT 0.652000 3 24 1 1 1 1 0 AASS 10157 broad.mit.edu 37 7 121733190 121733190 + Missense_Mutation SNP G G A rs74882337 byFrequency TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:121733190G>A ENST00000393376.1 - 15 1773 c.1678C>T c.(1678-1680)Cct>Tct p.P560S AASS_ENST00000417368.2_Missense_Mutation_p.P560S|AASS_ENST00000473553.1_5'UTR Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 560 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GCCACAAGAGGGTGCAATACA 0.383000 5 79 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8976589 8976589 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:8976589G>T ENST00000397910.4 - 74 42590 c.42387C>A c.(42385-42387)atC>atA p.I14129I MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.I770I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14160 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCTGAGGGAGATCAGTTGGC 0.567000 3 12 0.004672 0.0047814 1 1 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77334339 77334339 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:77334339C>T ENST00000477717.1 + 2 408 c.173C>T c.(172-174)cCg>cTg p.P58L ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 58 protein glycosylation integral to Golgi membrane sialyltransferase activity p.P58L(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCTCGCAGCCGGCGGCGGAG 0.731000 7 8 0 0 1 0 0 OR11H1 81061 broad.mit.edu 37 22 16449707 16449707 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:16449707G>T ENST00000252835.4 - 1 98 c.98C>A c.(97-99)tCt>tAt p.S33Y NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) CCACTCACAAGAGAAACCTTG 0.413000 20 148 1.69901e-12 2.04597e-12 1 1 0 NES 10763 broad.mit.edu 37 1 156640980 156640980 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:156640980C>T ENST00000368223.3 - 4 3132 c.3000G>A c.(2998-3000)ctG>ctA p.L1000L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1000 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGTGGCATTCAGCTCTCCCT 0.602000 32 609 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009304 5009304 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:5009304C>G ENST00000250076.3 - 5 1804 c.1150G>C c.(1150-1152)Gag>Cag p.E384Q ZNF232_ENST00000575898.1_Missense_Mutation_p.E375Q|ZNF232_ENST00000416429.2_3'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 357 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TAGGGCTTCTCTCCTGAGTGA 0.443000 10 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179600423 179600423 + Missense_Mutation SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:179600423A>G ENST00000589042.1 - 50 14974 c.14750T>C c.(14749-14751)gTc>gCc p.V4917A TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V4600A|TTN_ENST00000342992.6_Missense_Mutation_p.V3673A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4600 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTAACTGTGACTTTTCTGTC 0.408000 13 47 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134970 119134970 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:119134970C>T ENST00000264245.4 + 12 4726 c.4194C>T c.(4192-4194)gtC>gtT p.V1398V NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1398 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 ACACATGGGTCACACCAGAAG 0.502000 5 80 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108714262 108714262 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:108714262G>A ENST00000361189.2 - 4 1165 c.926C>T c.(925-927)tCt>tTt p.S309F PJA2_ENST00000361557.3_Missense_Mutation_p.S309F NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 309 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) CTGTTCAGGAGAACTTCCATG 0.423000 42 184 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139886559 139886559 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:139886559C>T ENST00000297183.6 + 19 3672 c.3548C>T c.(3547-3549)tCa>tTa p.S1183L ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1183L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S1183L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAATTAATTCAAGGTATTGC 0.333000 9 129 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112592273 112592273 + Missense_Mutation SNP G G T rs3932348 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:112592273G>T ENST00000341068.3 - 19 3064 c.2292C>A c.(2290-2292)ttC>ttA p.F764L NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 764 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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 NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGTGAAGAACGAAAAAAATTG 0.383000 18 116 2.37509e-13 2.8882e-13 1 1 0 C1orf127 148345 broad.mit.edu 37 1 11015223 11015223 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:11015223C>T ENST00000377004.4 - 9 798 c.799G>A c.(799-801)Gag>Aag p.E267K C1orf127_ENST00000377008.4_Missense_Mutation_p.E100K NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 118 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACTAAGACCTCCGACTCTGGC 0.517000 23 75 0 0 1 0 0 ZNF501 115560 broad.mit.edu 37 3 44776456 44776456 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:44776456G>C ENST00000396048.2 + 3 980 c.543G>C c.(541-543)caG>caC p.Q181H NM_001258280.1|NM_145044.3 NP_001245209.1|NP_659481.2 Q96CX3 ZN501_HUMAN zinc finger protein 501 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TGCAGCATCAGAGAATTCATT 0.433000 16 67 0 0 1 0 0 ZNF680 340252 broad.mit.edu 37 7 63982111 63982111 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:63982111T>A ENST00000309683.6 - 4 1172 c.1021A>T c.(1021-1023)Aag>Tag p.K341* NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) TGAATTTTCTTATGTTTAGTA 0.348000 11 43 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586697 50586697 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:50586697G>C ENST00000378182.3 + 2 1359 c.621G>C c.(619-621)atG>atC p.M207I TRIM13_ENST00000420995.2_Missense_Mutation_p.M207I|TRIM13_ENST00000356017.4_Missense_Mutation_p.M210I|TRIM13_ENST00000457662.2_Missense_Mutation_p.M207I|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.M210I NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 207 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTGAGACCATGAAACTTGCTG 0.388000 13 30 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111908388 111908388 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:111908388G>C ENST00000377617.3 - 19 3318 c.3157C>G c.(3157-3159)Cag>Gag p.Q1053E ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.Q764E|ATXN2_ENST00000389153.4_Missense_Mutation_p.Q790E|ATXN2_ENST00000542287.2_Missense_Mutation_p.Q788E NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1053 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GGCACATGCTGAACAAGGGGC 0.468000 24 108 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771716 99771716 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:99771716C>A ENST00000370185.3 + 7 1939 c.1442C>A c.(1441-1443)tCa>tAa p.S481* LPPR4_ENST00000370184.1_Nonsense_Mutation_p.S323*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.S423* NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 481 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAAATGAGGTCAAGCTCAGAG 0.517000 33 124 1.08312e-15 1.35027e-15 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100523679 100523679 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:100523679C>T ENST00000358544.2 + 29 4758 c.4647C>T c.(4645-4647)gtC>gtT p.V1549V VPS13B_ENST00000357162.2_Silent_p.V1524V|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1549 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGATTTATGTCAACACAAGTG 0.348000 10 55 0 0 1 0 0 SGCB 6443 broad.mit.edu 37 4 52894977 52894977 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:52894977G>T ENST00000381431.5 - 4 762 c.540C>A c.(538-540)ttC>ttA p.F180L SGCB_ENST00000535450.1_Missense_Mutation_p.F110L NM_000232.4 NP_000223.1 Q16585 SGCB_HUMAN sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 180 Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1) 17 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGTCTGTGCTGAATAAGATAT 0.378000 17 67 2.94398e-08 3.37559e-08 1 1 0 GPR156 165829 broad.mit.edu 37 3 119892253 119892253 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:119892253C>A ENST00000464295.1 - 9 1443 c.998G>T c.(997-999)aGc>aTc p.S333I GPR156_ENST00000315843.3_Missense_Mutation_p.S333I|GPR156_ENST00000461057.1_Missense_Mutation_p.S329I Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 333 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GTTGGGAGTGCTGAAATATTT 0.438000 20 80 1.2644e-06 1.38972e-06 1 1 0 RTN1 6252 broad.mit.edu 37 14 60072208 60072208 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:60072208C>G ENST00000267484.5 - 5 2325 c.1990G>C c.(1990-1992)Gag>Cag p.E664Q RTN1_ENST00000342503.4_Missense_Mutation_p.E96Q|RTN1_ENST00000395090.1_Missense_Mutation_p.E81Q|RTN1_ENST00000557422.1_Intron NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 664 Reticulon. 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) AGGGTGATCTCAAGCTCCAAG 0.507000 18 64 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189864209 189864209 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:189864209C>T ENST00000304636.3 + 31 2305 c.2135C>T c.(2134-2136)cCt>cTt p.P712L COL3A1_ENST00000317840.5_Missense_Mutation_p.P712L NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 712 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCTGCTGGTCCTCCTGGGCCA 0.473000 26 74 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3978564 3978564 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:3978564C>T ENST00000381638.2 - 22 3518 c.3394G>A c.(3394-3396)Gaa>Aaa p.E1132K NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1132 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TACCTTTTTTCAGTTTCACAC 0.413000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 113 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101117351 101117351 + Silent SNP G G A rs148043245 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:101117351G>A ENST00000356713.4 + 2 1945 c.1656G>A c.(1654-1656)acG>acA p.T552T CNNM1_ENST00000446890.1_Silent_p.T481T|CNNM1_ENST00000370534.4_Silent_p.T187T|CNNM1_ENST00000370528.3_Silent_p.T481T NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 552 CBS 2. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GCATTGTCACGCTGGAGGATA 0.473000 15 32 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82333636 82333636 + Splice_Site SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:82333636G>C ENST00000376520.4 + 16 2264 c.e16-1 TLE4_ENST00000376534.4_Splice_Site|TLE4_ENST00000376537.4_Splice_Site|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000376552.2_Splice_Site|TLE4_ENST00000265284.6_Splice_Site O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CATTGCCTTAGAGCATACTCC 0.483000 6 34 0 0 1 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102755612 102755612 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:102755612C>T ENST00000417955.1 - 4 1105 c.951G>A c.(949-951)atG>atA p.M317I NAPEPLD_ENST00000465647.1_Missense_Mutation_p.M317I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.M317I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.M390I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.M317I Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 317 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GCTGGTATTTCATAAACCACC 0.358000 13 86 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193218895 193218895 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:193218895C>T ENST00000367435.3 + 16 1637 c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L CDC73_ENST00000477868.1_3'UTR NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 485 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 TGAAGTTCGTCTGGATCCAAA 0.338000 14 106 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50905860 50905860 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:50905860G>A ENST00000380817.2 - 5 639 c.456C>T c.(454-456)atC>atT p.I152I SBF1_ENST00000348911.6_Silent_p.I153I|SBF1_ENST00000390679.3_Silent_p.I152I NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 152 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGATGGCATAGATGAGGCCAA 0.647000 7 98 0 0 1 0 0 FAF2 23197 broad.mit.edu 37 5 175927109 175927109 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:175927109C>T ENST00000261942.6 + 10 1170 c.1117C>T c.(1117-1119)Cga>Tga p.R373* NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 373 UBX. response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 TAATGATTCTCGAGTAGAGAG 0.438000 7 130 0 0 1 0 0 THAP6 152815 broad.mit.edu 37 4 76452281 76452281 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:76452281G>C ENST00000311638.3 + 5 594 c.526G>C c.(526-528)Gaa>Caa p.E176Q THAP6_ENST00000380837.3_Missense_Mutation_p.E134Q|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000514480.1_Missense_Mutation_p.E176Q|THAP6_ENST00000507885.1_Intron NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 176 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTTAGACCGAGAAAAACGTTT 0.388000 21 66 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971557 57971557 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:57971557G>C ENST00000302592.6 - 1 96 c.97C>G c.(97-99)Cag>Gag p.Q33E NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TGTTCAGCCTGGTTGGAGAGT 0.438000 16 102 0 0 1 0 0 GLRX3 10539 broad.mit.edu 37 10 131959182 131959182 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:131959182C>G ENST00000368644.1 + 4 421 c.399C>G c.(397-399)ctC>ctG p.L133L GLRX3_ENST00000331244.5_Silent_p.L133L NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 133 cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AAGAAGATCTCAACCTTCGCT 0.463000 16 81 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46977836 46977836 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:46977836G>A ENST00000371253.2 - 11 1550 c.1335C>T c.(1333-1335)taC>taT p.Y445Y GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.Y248Y NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 445 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TCTGATAGCTGTAACCCCTTT 0.443000 6 109 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104427284 104427284 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:104427284G>A ENST00000297579.5 + 1 343 c.66G>A c.(64-66)acG>acA p.T22T SLC25A32_ENST00000297578.4_5'UTR|SLC25A32_ENST00000543107.1_5'UTR NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CGGGACCAACGAGAGGACTCT 0.687000 4 23 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64393953 64393953 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:64393953C>G ENST00000265459.6 - 20 4290 c.3829G>C c.(3829-3831)Gag>Cag p.E1277Q NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.E231Q|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1270Q|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1277Q NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1277 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AGCAGCCACTCATCTACTACT 0.408000 29 91 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143096457 143096457 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:143096457G>A ENST00000275815.3 - 5 971 c.885C>T c.(883-885)ctC>ctT p.L295L NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 295 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGGGGCACGTGAGACAATGGG 0.602000 11 52 0 0 1 0 0 WNT8A 7478 broad.mit.edu 37 5 137426590 137426590 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:137426590C>A ENST00000506684.1 + 5 1174 c.938C>A c.(937-939)aCt>aAt p.T313N WNT8A_ENST00000398754.1_Missense_Mutation_p.T295N Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 295 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CGCCTGTGCACTGAGTGTGGG 0.552000 17 65 2.48551e-13 3.01753e-13 1 1 0 AGPAT4 56895 broad.mit.edu 37 6 161574502 161574502 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:161574502G>A ENST00000320285.4 - 5 752 c.540C>T c.(538-540)ttC>ttT p.F180F AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 180 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) TCTTCTCCGTGAACCGTGTGC 0.617000 3 14 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760128 54760128 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:54760128C>T ENST00000450632.1 - 4 483 c.406G>A c.(406-408)Gat>Aat p.D136N LILRB5_ENST00000449561.2_Missense_Mutation_p.D145N|LILRB5_ENST00000316219.5_Missense_Mutation_p.D145N|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 145 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCAGTGTATCACACTGGAGG 0.547000 29 62 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39448619 39448619 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:39448619G>A ENST00000257408.4 + 4 2370 c.2273G>A c.(2272-2274)tGg>tAg p.W758* NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 758 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GACTCGCACTGGAGGGCGGCC 0.677000 17 59 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 431871 431871 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:431871C>G ENST00000332826.6 - 6 526 c.442G>C c.(442-444)Gag>Cag p.E148Q NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 148 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 AACCTGGCCTCAAAGACCCCG 0.667000 5 32 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65746353 65746353 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:65746353C>T ENST00000312397.5 + 19 2444 c.2352C>T c.(2350-2352)atC>atT p.I784I NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 784 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCCCTACATCGTGCTCAGCG 0.667000 10 116 0 0 1 0 0 ZNF605 100289635 broad.mit.edu 37 12 133502297 133502297 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:133502297C>A ENST00000360187.4 - 5 1936 c.1588G>T c.(1588-1590)Gag>Tag p.E530* ZNF605_ENST00000392321.3_Nonsense_Mutation_p.E561* NM_183238.3 NP_899061.1 Q86T29 ZN605_HUMAN zinc finger protein 605 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) TAGGGTTTCTCCCCTGTATGA 0.428000 22 99 1.28384e-07 1.43227e-07 1 1 0 P2RX7 5027 broad.mit.edu 37 12 121613190 121613190 + Splice_Site SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:121613190G>C ENST00000328963.5 + 8 825 c.e8-1 P2RX7_ENST00000443520.3_Splice_Site|P2RX7_ENST00000535250.1_Splice_Site|P2RX7_ENST00000377162.2_Splice_Site|P2RX7_ENST00000546057.1_Splice_Site|P2RX7_ENST00000541446.1_Splice_Site A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCTTCCTACAGATACGCCAAG 0.408000 10 72 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8235408 8235408 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:8235408C>A ENST00000520004.1 - 3 775 c.511G>T c.(511-513)Ggc>Tgc p.G171C SGK223_ENST00000330777.4_Missense_Mutation_p.G171C Q86YV5 SG223_HUMAN 171 ATP binding|non-membrane spanning protein tyrosine kinase activity TTCCTCTCGCCGCGGGGCTCA 0.592000 28 78 3.73148e-12 4.47175e-12 1 1 0 GRIN1 2902 broad.mit.edu 37 9 140059721 140059721 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:140059721C>T ENST00000371561.3 + 19 3770 c.2673C>T c.(2671-2673)ttC>ttT p.F891F GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000371546.4_Silent_p.F912F|GRIN1_ENST00000350902.5_3'UTR|GRIN1_ENST00000371553.3_Silent_p.F912F|GRIN1_ENST00000371555.4_Intron|GRIN1_ENST00000315048.3_Silent_p.F891F|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Intron NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 891 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTTCCAGCTTCAAGAGGCGTA 0.552000 18 89 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50279146 50279146 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:50279146G>A ENST00000216268.4 + 2 2313 c.1836G>A c.(1834-1836)ctG>ctA p.L612L NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 612 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCAACGTGCTGAAAACTGAGG 0.582000 20 50 0 0 1 0 0 CBWD1 55871 broad.mit.edu 37 9 154768 154768 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:154768G>C ENST00000377447.3 - 8 658 c.603C>G c.(601-603)ctC>ctG p.L201L CBWD1_ENST00000314367.10_Silent_p.L165L|CBWD1_ENST00000356521.4_Silent_p.L201L|CBWD1_ENST00000382447.4_Silent_p.L201L|CBWD1_ENST00000377400.4_Intron Q9BRT8 CBWD1_HUMAN COBW domain containing 1 201 ATP binding|protein binding kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) TTTTATTAATGAGAATGGCAT 0.328000 14 96 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76793183 76793183 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:76793183C>A ENST00000286719.7 - 13 2000 c.1644G>T c.(1642-1644)agG>agT p.R548S NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 548 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTGCCTTTGCCTCATGGTGA 0.403000 18 73 3.51602e-12 4.22036e-12 1 1 0 CUL3 8452 broad.mit.edu 37 2 225422486 225422486 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:225422486G>C ENST00000264414.4 - 2 492 c.154C>G c.(154-156)Ctt>Gtt p.L52V CUL3_ENST00000344951.4_Intron|CUL3_ENST00000409777.1_Missense_Mutation_p.L28V|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.L28V NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 52 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAAAACTAAGACCACTGTTA 0.358000 9 51 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30747668 30747668 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:30747668G>T ENST00000262518.4 + 32 7262 c.6877G>T c.(6877-6879)Gag>Tag p.E2293* SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2135*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2231* NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2293 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGCTGAGGATGAGGAGATGTC 0.567000 19 55 2.4624e-09 2.86765e-09 1 1 0 KRT6B 3854 broad.mit.edu 37 12 52841737 52841737 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:52841737C>A ENST00000252252.3 - 7 1296 c.1249G>T c.(1249-1251)Gag>Tag p.E417* NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 417 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) AGGGCCATCTCCCCACGCTGC 0.562000 7 136 0.0381472 0.0385624 1 1 0 RBM25 58517 broad.mit.edu 37 14 73569914 73569914 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:73569914G>T ENST00000261973.7 + 10 1167 c.882G>T c.(880-882)gaG>gaT p.E294D RBM25_ENST00000527432.1_Missense_Mutation_p.E294D NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 294 Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TGgaagaagagaaaggcaaaa 0.443000 6 26 3.59834e-05 3.83582e-05 1 1 0 GRK6 2870 broad.mit.edu 37 5 176867754 176867754 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:176867754C>T ENST00000355472.5 + 14 1626 c.1458C>T c.(1456-1458)gtC>gtT p.V486V GRK6_ENST00000528793.1_Silent_p.V486V|GRK6_ENST00000355958.5_Silent_p.V486V|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.V452V NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 486 AGC-kinase C-terminal. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.V486V(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCTACGGTCAAGGGCGTGG 0.582000 5 56 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108476012 108476012 + Silent SNP G G T rs141416455 by1000genomes TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:108476012G>T ENST00000295755.6 - 1 219 c.21C>A c.(19-21)ctC>ctA p.L7L NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 7 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GGATGAGAAGGAGGCAAGAGG 0.517000 14 36 1.5739e-10 1.8562e-10 1 1 0 MARC2 54996 broad.mit.edu 37 1 220928439 220928439 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:220928439C>G ENST00000366913.3 + 2 621 c.423C>G c.(421-423)tcC>tcG p.S141S MARC2_ENST00000359316.2_Silent_p.S141S NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 141 mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding AGCAGCCTTCCTCAAACAAAC 0.522000 32 178 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338834 122338834 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:122338834G>A ENST00000340112.2 - 1 376 c.139C>T c.(139-141)Cat>Tat p.H47Y CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 47 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TTCCCAACATGAAATGATATG 0.448000 32 132 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179532244 179532244 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:179532244G>T ENST00000589042.1 - 161 35862 c.35638C>A c.(35638-35640)Cca>Aca p.P11880T TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10019 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P182T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTTGGGTGGCTCAGGCACT 0.308000 6 28 5.18039e-06 5.59452e-06 1 1 0 PKNOX1 5316 broad.mit.edu 37 21 44441416 44441416 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:44441416C>T ENST00000291547.5 + 8 935 c.724C>T c.(724-726)Cag>Tag p.Q242* PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.Q125* NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 242 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 TTAAAAGCTTCAGTTACAGTT 0.418000 3 32 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098843 48098843 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:48098843T>A ENST00000371741.4 - 1 341 c.175A>T c.(175-177)Aag>Tag p.K59* NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 59 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCGCGGAGCTTGCCCAGCCGC 0.682000 8 25 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182597428 182597428 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:182597428G>A ENST00000323116.5 + 20 2657 c.2397G>A c.(2395-2397)caG>caA p.Q799Q NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 799 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Q799H(1) breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CTCCACTGCAGAAAGCAAAAG 0.343000 5 67 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231328805 231328805 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:231328805G>A ENST00000264052.5 + 11 1436 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K SP100_ENST00000341950.4_Missense_Mutation_p.E361K|SP100_ENST00000427101.2_Missense_Mutation_p.E336K|SP100_ENST00000409897.1_Missense_Mutation_p.E326K|SP100_ENST00000409112.1_Missense_Mutation_p.E361K|SP100_ENST00000340126.4_Missense_Mutation_p.E361K|SP100_ENST00000409341.1_Missense_Mutation_p.E361K|SP100_ENST00000409824.1_Missense_Mutation_p.E336K NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 361 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CAACCCTTTAGAATCAAATGA 0.413000 16 33 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161596006 161596006 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:161596006G>C ENST00000294800.3 - 4 779 c.506C>G c.(505-507)tCc>tGc p.S169C FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.S169C|FCGR3B_ENST00000531221.1_Missense_Mutation_p.S205C NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 169 Ig-like C2-type 2. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCAGAAGTAGGAGCCGCTATC 0.448000 20 122 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221638 55221638 + RNA SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:55221638G>A ENST00000413439.1 + 0 1415 GATCGCAGGTGAGGAGCCCAG 0.677000 6 34 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051205 13051205 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:13051205C>T ENST00000316448.5 + 5 714 c.641C>T c.(640-642)tCa>tTa p.S214L NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 214 4 X approximate repeats.|P-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGATGCTTCAAAACCGGAA 0.542000 17 54 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825233 8825233 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:8825233C>T ENST00000359865.3 + 15 3867 c.3725C>T c.(3724-3726)tCc>tTc p.S1242F SOGA2_ENST00000518815.1_Missense_Mutation_p.S567F|SOGA2_ENST00000400050.3_Missense_Mutation_p.S1201F|SOGA2_ENST00000517570.1_Missense_Mutation_p.S1201F|SOGA2_ENST00000306285.7_Missense_Mutation_p.S567F|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1561F NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1552 CCTTGCACCTCCCCCAGGCAC 0.667000 6 38 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31091305 31091305 + Missense_Mutation SNP C C T rs79856312 byFrequency TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:31091305C>T ENST00000332585.6 + 1 513 c.409C>T c.(409-411)Ctc>Ttc p.L137F OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.L137F|OSBP2_ENST00000446658.2_Missense_Mutation_p.L137F NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 137 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CGCGACCTTTCTCAGACCCGA 0.657000 4 60 0 0 1 0 0 GXYLT2 727936 broad.mit.edu 37 3 73004335 73004335 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:73004335G>A ENST00000389617.4 + 4 848 c.687G>A c.(685-687)ctG>ctA p.L229L NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 229 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 GGAAGCTTCTGAGGCTGTTTA 0.498000 4 37 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805922 20805922 + RNA SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:20805922C>T ENST00000577537.1 + 0 1106 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA CTGTGCTTTGCACTCATTCCC 0.582000 6 28 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80223453 80223453 + Missense_Mutation SNP G G A rs145854631 byFrequency TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:80223453G>A ENST00000392959.1 - 4 807 c.196C>T c.(196-198)Cgg>Tgg p.R66W LCA5_ENST00000467898.2_Missense_Mutation_p.R66W|LCA5_ENST00000369846.4_Missense_Mutation_p.R66W NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 66 R -> Q (in dbSNP:rs35338066). protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CTTGGTTTCCGAGGGGCTAAA 0.443000 39 127 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48210974 48210974 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:48210974C>A ENST00000394747.1 - 24 3748 c.3399G>T c.(3397-3399)caG>caT p.Q1133H ABCC11_ENST00000394748.1_Missense_Mutation_p.Q1133H|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.Q1133H|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q1133H NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1133 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Q1133H(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTGGCCACCCCTGGGGACAAC 0.458000 10 54 3.07112e-06 3.33115e-06 1 1 0 TCTA 6988 broad.mit.edu 37 3 49450518 49450518 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:49450518G>T ENST00000273590.3 + 2 465 c.244G>T c.(244-246)Gat>Tat p.D82Y TCTA_ENST00000493381.1_3'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 82 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATCCACGCCTGATGGCTCCAC 0.572000 13 40 0.000151284 0.000160349 1 1 0 MTA1 9112 broad.mit.edu 37 14 105931079 105931079 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:105931079C>T ENST00000331320.7 + 15 1627 c.1413C>T c.(1411-1413)ttC>ttT p.F471F MTA1_ENST00000406191.1_Silent_p.F471F|MTA1_ENST00000405646.1_Silent_p.F454F|MTA1_ENST00000435036.2_Silent_p.F7F NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 471 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GGCAGGCTTTCTATCTGCACA 0.682000 7 28 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75625801 75625801 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:75625801C>T ENST00000248600.1 - 9 1269 c.927G>A c.(925-927)atG>atA p.M309I STYXL1_ENST00000359697.3_Missense_Mutation_p.M309I|STYXL1_ENST00000431581.1_Missense_Mutation_p.M309I|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.M213I NM_016086.2 NP_057170.1 Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 309 intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 AGAGCGGATCCATGATGTTTG 0.522000 18 46 0 0 1 0 0 MIR521-1 574494 broad.mit.edu 37 19 54251946 54251946 + RNA SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:54251946G>C ENST00000384902.1 + 0 57 NR_030216.1 AGAAAAGAACGCACTTCCCTT 0.433000 18 83 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14903476 14903476 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrY:14903476G>A ENST00000338981.3 + 26 4677 c.3732G>A c.(3730-3732)caG>caA p.Q1244Q USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1244 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGGCTATACAGAAAATTATCT 0.318000 6 10 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20563501 20563501 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:20563501G>C ENST00000329697.6 - 6 1027 c.859C>G c.(859-861)Ctc>Gtc p.L287V ACSM2B_ENST00000567001.1_Missense_Mutation_p.L287V|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L287V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L208V NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 287 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTTGGCAAGAGATGAACAAAT 0.423000 33 175 0 0 1 0 0 LCE2A 353139 broad.mit.edu 37 1 152671606 152671606 + Missense_Mutation SNP T T G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:152671606T>G ENST00000368779.1 + 2 280 c.229T>G c.(229-231)Ttc>Gtc p.F77V NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 77 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCCCGTCTCTTCCACCGGCA 0.682000 14 151 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58892342 58892342 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:58892342G>A ENST00000343597.3 + 4 963 c.772G>A c.(772-774)Gaa>Aaa p.E258K FAM111B_ENST00000529618.1_Missense_Mutation_p.E228K|FAM111B_ENST00000411426.1_Missense_Mutation_p.E228K NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 258 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 CATGGTGGATGAAGTATCTGG 0.338000 8 77 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215813914 215813914 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:215813914C>G ENST00000366943.2 - 68 15340 c.14954G>C c.(14953-14955)aGa>aCa p.R4985T USH2A_ENST00000307340.3_Missense_Mutation_p.R4985T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4985 Fibronectin type-III 35. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCCGCCGTTCTCGGTATGTA 0.542000 HNSCC(13;0.011) 8 68 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110385163 110385163 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:110385163C>T ENST00000360185.4 - 14 1553 c.1389G>A c.(1387-1389)atG>atA p.M463I GIT2_ENST00000553118.1_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.M513I|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000457474.2_Missense_Mutation_p.M465I|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.M433I|GIT2_ENST00000354574.4_Missense_Mutation_p.M465I|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000361006.5_Missense_Mutation_p.M513I|GIT2_ENST00000551209.1_Missense_Mutation_p.M462I Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 513 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 CGTACATGGACATGGGCCTAC 0.557000 15 60 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086269 92086269 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:92086269C>A ENST00000298047.6 + 1 1008 c.991C>A c.(991-993)Cag>Aag p.Q331K FAT3_ENST00000409404.2_Missense_Mutation_p.Q331K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q181K|FAT3_ENST00000541502.1_Missense_Mutation_p.Q331K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 331 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAGAGGAAGCAGATTGACTG 0.433000 TCGA Ovarian(4;0.039) 5 45 0.014758 0.0149798 1 1 0 OVCH1 341350 broad.mit.edu 37 12 29631788 29631788 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:29631788G>T ENST00000318184.5 - 9 1048 c.1049C>A c.(1048-1050)tCa>tAa p.S350* OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 350 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.S350*(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TCCACTGCTTGATCGTAAAGA 0.294000 4 18 1 1 1 1 0 GNAQ 2776 broad.mit.edu 37 9 80409473 80409473 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:80409473C>T ENST00000286548.4 - 5 863 c.641G>A c.(640-642)aGa>aAa p.R214K GNAQ_ENST00000397476.3_Missense_Mutation_p.R12K NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 214 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 TATCCATTTTCTTCTCTCTGA 0.353000 Mis uveal melanoma 7 82 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169208281 169208281 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:169208281G>C ENST00000393743.3 - 10 1548 c.1257C>G c.(1255-1257)gtC>gtG p.V419V NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 419 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CAAAGTCTCTGACCAACTTTG 0.318000 11 65 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41164258 41164258 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:41164258G>C ENST00000379845.3 - 1 251 c.119C>G c.(118-120)tCc>tGc p.S40C SFRP1_ENST00000220772.3_Intron Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 0 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CTGCTGGGAGGAGTGGAGGTG 0.607000 4 9 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187005192 187005192 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:187005192C>G ENST00000296795.2 + 4 2456 c.2352C>G c.(2350-2352)ctC>ctG p.L784L TLR3_ENST00000504367.1_Silent_p.L507L NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 784 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ACCAATCTCTCAAATTTTGTC 0.343000 18 99 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79914845 79914845 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:79914845C>A ENST00000409678.3 - 7 1184 c.801G>T c.(799-801)tgG>tgT p.W267C NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 267 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGTCCAGGAACCAGCCGGAGT 0.672000 5 22 1.23904e-05 1.33036e-05 1 1 0 ADCK3 56997 broad.mit.edu 37 1 227174301 227174301 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:227174301C>G ENST00000366779.1 + 20 4578 c.1807C>G c.(1807-1809)Ccc>Gcc p.P603A ADCK3_ENST00000366778.1_Missense_Mutation_p.P551A|ADCK3_ENST00000366777.3_Missense_Mutation_p.P603A|ADCK3_ENST00000433743.2_Missense_Mutation_p.P277A|ADCK3_ENST00000366776.1_Missense_Mutation_p.P528A|ADCK3_ENST00000366775.1_Missense_Mutation_p.P448A|ADCK3_ENST00000458507.2_Missense_Mutation_p.P324A|ADCK3_ENST00000478406.1_3'UTR Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 603 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CGTCCCCCCACCCGAGGAAAC 0.592000 11 151 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10942755 10942755 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:10942755C>T ENST00000298232.7 - 12 999 c.632G>A c.(631-633)cGa>cAa p.R211Q TPTE_ENST00000342420.5_Missense_Mutation_p.R191Q|TPTE_ENST00000361285.4_Missense_Mutation_p.R229Q|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 229 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTGTGTATCGCCTTTTGTT 0.323000 50 464 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102898216 102898216 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:102898216G>A ENST00000359520.7 + 8 1394 c.1168G>A c.(1168-1170)Gag>Aag p.E390K TECPR2_ENST00000558678.1_Missense_Mutation_p.E390K NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 390 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CACAGTTTCTGAGACGAGGCT 0.607000 16 71 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108852 75108852 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:75108852G>T ENST00000309664.5 + 3 554 c.415G>T c.(415-417)Gac>Tac p.D139Y LMAN1L_ENST00000379709.3_Missense_Mutation_p.D139Y NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 139 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GATCTTCTTTGACTCTCCGGC 0.687000 26 87 7.76418e-22 9.87806e-22 1 1 0 CARS2 79587 broad.mit.edu 37 13 111340150 111340150 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:111340150C>A ENST00000257347.4 - 5 552 c.489G>T c.(487-489)ctG>ctT p.L163L CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 163 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CGGTTACCCTCAGGTACACCG 0.483000 11 197 0.000673444 0.00070178 1 1 0 FREM2 341640 broad.mit.edu 37 13 39264368 39264368 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:39264368G>A ENST00000280481.7 + 1 3103 c.2887G>A c.(2887-2889)Gaa>Aaa p.E963K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 963 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGGGCTACTGAAATCACTGC 0.453000 5 88 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90144596 90144596 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:90144596G>A ENST00000268138.7 + 10 2326 c.2221G>A c.(2221-2223)Gat>Aat p.D741N TICRR_ENST00000560985.1_Missense_Mutation_p.D740N TOPBP1-interacting checkpoint and replication regulator TGAAAGTACAGATGATATGGA 0.413000 19 79 0 0 1 0 0 SGCD 6444 broad.mit.edu 37 5 156022008 156022008 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:156022008T>C ENST00000435422.3 + 5 933 c.446T>C c.(445-447)tTc>tCc p.F149S SGCD_ENST00000337851.4_Missense_Mutation_p.F150S|SGCD_ENST00000447401.1_Missense_Mutation_p.F150S|SGCD_ENST00000517913.1_Missense_Mutation_p.F150S NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 149 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAATTGCTCTTCTCTGCAGAC 0.363000 6 25 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36006412 36006412 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:36006412G>C ENST00000540320.1 + 39 6720 c.6186G>C c.(6184-6186)ttG>ttC p.L2062F NBEA_ENST00000310336.4_Missense_Mutation_p.L2062F|NBEA_ENST00000379939.2_Missense_Mutation_p.L2059F|NBEA_ENST00000400445.3_Missense_Mutation_p.L2062F Q8NFP9 NBEA_HUMAN neurobeachin 2062 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTAGCCAATTGCATGATTTCT 0.378000 4 16 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153258956 153258956 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:153258956C>T ENST00000281708.4 - 5 2088 c.859G>A c.(859-861)Gag>Aag p.E287K FBXW7_ENST00000393956.3_Missense_Mutation_p.E111K|FBXW7_ENST00000603841.1_Missense_Mutation_p.E287K|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.E207K|FBXW7_ENST00000296555.5_Missense_Mutation_p.E169K|FBXW7_ENST00000603548.1_Missense_Mutation_p.E287K NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 287 F-box. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATCTTTACCTCTTTAGGGAGC 0.343000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 17 78 0 0 1 0 0 PTTG1 9232 broad.mit.edu 37 5 159854878 159854878 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:159854878C>G ENST00000393964.1 + 4 930 c.527C>G c.(526-528)tCc>tGc p.S176C PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Missense_Mutation_p.S176C|PTTG1_ENST00000352433.5_Missense_Mutation_p.S176C O95997 PTTG1_HUMAN pituitary tumor-transforming 1 176 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding breast(1)|large_intestine(1)|lung(4) 6 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) CCATGGGAATCCAGTAAGTGA 0.522000 12 54 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44836666 44836666 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:44836666C>T ENST00000270162.6 - 14 2440 c.2308G>A c.(2308-2310)Gac>Aac p.D770N NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 770 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GGCATCAGGTCCTCCATCTCA 0.662000 10 33 0 0 1 0 0 RNF167 26001 broad.mit.edu 37 17 4848207 4848207 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:4848207C>G ENST00000262482.6 + 10 1605 c.949C>G c.(949-951)Ctt>Gtt p.L317V RNF167_ENST00000572430.1_Missense_Mutation_p.L317V|RNF167_ENST00000575111.1_Missense_Mutation_p.L317V|RNF167_ENST00000571816.1_Missense_Mutation_p.L317V|RNF167_ENST00000576229.1_Missense_Mutation_p.L282V NM_015528.1 NP_056343.1 Q9H6Y7 RN167_HUMAN ring finger protein 167 317 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 TAGCCCCACTCTTCCCACCTC 0.572000 48 178 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33373021 33373021 + Silent SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:33373021A>G ENST00000428849.2 + 7 1599 c.1149A>G c.(1147-1149)ggA>ggG p.G383G NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 383 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CAGGAAGTGGACAGGATGAAG 0.562000 60 127 0 0 1 0 0 NMT1 4836 broad.mit.edu 37 17 43182236 43182236 + Missense_Mutation SNP G G C rs1802201 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:43182236G>C ENST00000592782.1 + 12 1473 c.1342G>C c.(1342-1344)Gat>Cat p.D448H NMT1_ENST00000258960.2_Missense_Mutation_p.D448H P30419 NMT1_HUMAN N-myristoyltransferase 1 448 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GAAAGGGTTTGATGTGTTCAA 0.493000 12 46 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25630601 25630601 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:25630601C>T ENST00000262394.2 + 3 734 c.418C>T c.(418-420)Cag>Tag p.Q140* WSB1_ENST00000427287.2_Nonsense_Mutation_p.Q109*|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000581185.1_Nonsense_Mutation_p.Q140*|WSB1_ENST00000579733.1_Intron NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 140 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGGACAAGATCAGCTACTTCT 0.368000 48 170 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37282732 37282732 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:37282732C>T ENST00000373091.3 - 13 2036 c.2020G>A c.(2020-2022)Gat>Aat p.D674N GRIK3_ENST00000373093.4_Missense_Mutation_p.D674N NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 674 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCCAGGTCATCAGCAGAGTCA 0.547000 15 62 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513316 70513316 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:70513316C>A ENST00000503640.1 - 1 102 c.47G>T c.(46-48)gGa>gTa p.G16V UGT2A1_ENST00000514019.1_Missense_Mutation_p.G16V|UGT2A1_ENST00000286604.4_Missense_Mutation_p.G16V|UGT2A1_ENST00000512704.1_Missense_Mutation_p.G16V NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 16 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AAGAGTGGTTCCTATGAGACT 0.373000 9 30 5.4927e-09 6.36674e-09 1 1 0 EEF2K 29904 broad.mit.edu 37 16 22269092 22269092 + Splice_Site SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:22269092G>A ENST00000263026.5 + 9 1503 c.e9+1 NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) CAAGCTGCTGGTGGGTGCCCA 0.607000 32 97 0 0 1 0 0 PNPLA3 80339 broad.mit.edu 37 22 44333103 44333103 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:44333103G>T ENST00000216180.3 + 6 1103 c.930G>T c.(928-930)ctG>ctT p.L310L PNPLA3_ENST00000423180.2_Silent_p.L306L NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 310 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) TCAGCATCCTGCCCTGGGATG 0.607000 9 29 1.76689e-08 2.0322e-08 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262242 45262242 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:45262242G>C ENST00000303230.4 - 8 2511 c.2454C>G c.(2452-2454)ccC>ccG p.P818P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 818 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CCGCCGTCACGGGTTGAGGGA 0.677000 14 30 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153593022 153593022 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrX:153593022C>A ENST00000422373.1 - 13 2142 c.1894G>T c.(1894-1896)Gat>Tat p.D632Y FLNA_ENST00000360319.4_Missense_Mutation_p.D632Y|FLNA_ENST00000369850.3_Missense_Mutation_p.D632Y|FLNA_ENST00000344736.4_Missense_Mutation_p.D632Y NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 632 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TAGCGCACATCACAGGAGCCG 0.612000 27 31 6.12954e-19 7.75851e-19 1 1 0 INTS3 65123 broad.mit.edu 37 1 153721200 153721200 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:153721200G>A ENST00000318967.2 + 6 1121 c.553G>A c.(553-555)Gaa>Aaa p.E185K INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.E185K NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 186 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGGTTGGCAGAAAGTGTTCT 0.458000 122 441 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100204142 100204142 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:100204142G>T ENST00000355295.4 + 6 1135 c.840G>T c.(838-840)tgG>tgT p.W280C TDRD7_ENST00000422139.2_Missense_Mutation_p.W206C NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 280 Lotus/OST-HTH 2. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TTGAACACTGGCCTCATATTT 0.358000 16 64 8.60227e-14 1.05123e-13 1 1 0 SLC30A9 10463 broad.mit.edu 37 4 42022529 42022529 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:42022529C>G ENST00000264451.6 + 4 611 c.431C>G c.(430-432)tCc>tGc p.S144C NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 144 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGCCTCAAATCCAGGTAATTT 0.348000 24 93 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398262 25398262 + Missense_Mutation SNP C C A rs121913538 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:25398262C>A ENST00000311936.3 - 2 248 c.57G>T c.(55-57)ttG>ttT p.L19F KRAS_ENST00000556131.1_Missense_Mutation_p.L19F|KRAS_ENST00000256078.4_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 19 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.L19F(15) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCTGTATCGTCAAGGCACTCT 0.358000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 24 1.76689e-08 2.0322e-08 1 1 0 ZNF239 8187 broad.mit.edu 37 10 44052848 44052848 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:44052848C>A ENST00000306006.6 - 2 1332 c.680G>T c.(679-681)aGa>aTa p.R227I ZNF239_ENST00000374446.2_Missense_Mutation_p.R227I|ZNF239_ENST00000426961.1_Missense_Mutation_p.R227I|ZNF239_ENST00000535642.1_Missense_Mutation_p.R227I NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGTGTGGTCTCTCTGATGAAG 0.453000 28 105 5.61819e-17 7.03931e-17 1 1 0 HK1 3098 broad.mit.edu 37 10 71160864 71160864 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:71160864G>T ENST00000448642.2 + 23 3221 c.2832G>T c.(2830-2832)gtG>gtT p.V944V HK1_ENST00000359426.6_Silent_p.V909V|HK1_ENST00000298649.3_Silent_p.V908V|HK1_ENST00000404387.2_Silent_p.V913V|HK1_ENST00000360289.2_Silent_p.V897V P19367 HXK1_HUMAN hexokinase 1 909 glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 CCGTGGGCGTGCGGTTACGCA 0.622000 5 31 1.23904e-05 1.33036e-05 1 1 0 DCP1B 196513 broad.mit.edu 37 12 2074748 2074748 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:2074748G>C ENST00000280665.6 - 5 577 c.498C>G c.(496-498)atC>atG p.I166M DCP1B_ENST00000540622.1_Missense_Mutation_p.I40M|DCP1B_ENST00000397173.4_Missense_Mutation_p.I64M|DCP1B_ENST00000541700.1_Intron NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 166 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CTTTGGCCTTGATGAGCATTC 0.443000 8 25 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95516337 95516337 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:95516337G>A ENST00000358780.5 - 5 767 c.455C>T c.(454-456)tCa>tTa p.S152L FAM76B_ENST00000536839.1_Missense_Mutation_p.S152L NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 152 Poly-Ser. breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATTTGAATGTGAAGATCCCAG 0.398000 9 29 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183600966 183600966 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:183600966C>A ENST00000511685.1 + 8 1597 c.1474C>A c.(1474-1476)Cat>Aat p.H492N TENM3_ENST00000406950.2_Missense_Mutation_p.H492N teneurin transmembrane protein 3 TGGAATCTGGCATCTGGCTTT 0.483000 7 33 5.18039e-06 5.59452e-06 1 1 0 VANGL2 57216 broad.mit.edu 37 1 160390289 160390289 + Missense_Mutation SNP G G T rs61744131 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:160390289G>T ENST00000368061.2 + 5 1363 c.889G>T c.(889-891)Gtc>Ttc p.V297F VANGL2_ENST00000483408.1_Intron NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 297 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.V297I(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCCAAGTCCGTCCTGGCCAA 0.587000 84 57 1.68508e-47 2.16986e-47 1 1 0 RBM12B 389677 broad.mit.edu 37 8 94746110 94746110 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:94746110G>A ENST00000399300.2 - 3 2742 c.2529C>T c.(2527-2529)ttC>ttT p.F843F RBM12B_ENST00000517700.1_Silent_p.F723F|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 843 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGAGCTGCCTGAAGTCCTCAT 0.547000 10 91 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37430668 37430668 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:37430668G>A ENST00000373451.4 + 13 1553 c.1389G>A c.(1387-1389)gtG>gtA p.V463V NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 463 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 TCTTCGCAGTGAATATTAAAC 0.507000 25 107 0 0 1 0 0 TMEM177 80775 broad.mit.edu 37 2 120438503 120438503 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:120438503C>A ENST00000424086.1 + 2 547 c.74C>A c.(73-75)gCa>gAa p.A25E TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Missense_Mutation_p.A25E|TMEM177_ENST00000401466.1_Missense_Mutation_p.A25E|TMEM177_ENST00000272521.6_Missense_Mutation_p.A25E NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 25 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) GGTTCCTGTGCAGGCCTGTTT 0.607000 8 71 5.4927e-09 6.36674e-09 1 1 0 ZNF800 168850 broad.mit.edu 37 7 127014756 127014756 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:127014756G>A ENST00000393313.1 - 5 1225 c.634C>T c.(634-636)Cag>Tag p.Q212* ZNF800_ENST00000393312.1_Nonsense_Mutation_p.Q212*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.Q212* Q2TB10 ZN800_HUMAN zinc finger protein 800 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TGCGACTCCTGAGGTTGTTCA 0.423000 48 140 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46334680 46334680 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:46334680G>A ENST00000510861.1 - 4 380 c.207C>T c.(205-207)ttC>ttT p.F69F GABRA2_ENST00000507069.1_Silent_p.F69F|GABRA2_ENST00000514090.1_Silent_p.F69F|GABRA2_ENST00000515082.1_Silent_p.F69F|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000381620.4_Silent_p.F69F|GABRA2_ENST00000356504.1_Silent_p.F69F P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 69 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGATGTTAGTGAAGACTTCAG 0.373000 10 90 0 0 1 0 0 DDX50 79009 broad.mit.edu 37 10 70706284 70706284 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:70706284G>C ENST00000373585.3 + 15 2219 c.2112G>C c.(2110-2112)caG>caC p.Q704H DDX50_ENST00000466265.1_3'UTR NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 704 Arg-rich. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 CAGGTAGACAGAGTCGACAAG 0.537000 12 85 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313536 54313536 + Missense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:54313536T>A ENST00000324134.6 - 3 1545 c.1377A>T c.(1375-1377)agA>agT p.R459S NLRP12_ENST00000354278.3_Missense_Mutation_p.R459S|NLRP12_ENST00000351894.4_Missense_Mutation_p.R459S|NLRP12_ENST00000391775.3_Missense_Mutation_p.R459S|NLRP12_ENST00000535162.1_Missense_Mutation_p.R459S|NLRP12_ENST00000391772.1_Missense_Mutation_p.R459S|NLRP12_ENST00000345770.5_Missense_Mutation_p.R459S|NLRP12_ENST00000391773.1_Missense_Mutation_p.R459S NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 459 NACHT. 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) AGCACAACCCTCTCTGGTTGG 0.612000 26 103 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131301915 131301915 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:131301915G>T ENST00000309971.4 + 14 2008 c.1902G>T c.(1900-1902)atG>atT p.M634I GLE1_ENST00000372770.4_Missense_Mutation_p.M634I|GLE1_ENST00000539582.1_Missense_Mutation_p.M380I|RP11-216B9.6_ENST00000434999.1_RNA NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 634 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 ATGCCCTCATGAAGCAATACC 0.453000 5 74 0.014758 0.0149798 1 1 0 SLC17A6 57084 broad.mit.edu 37 11 22399117 22399117 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:22399117A>T ENST00000263160.3 + 12 2017 c.1580A>T c.(1579-1581)gAa>gTa p.E527V NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 527 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CTCGATGAAGAAACAGGGGAC 0.423000 16 67 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032173 26032173 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:26032173G>T ENST00000244661.2 - 1 115 c.116C>A c.(115-117)cCt>cAt p.P39H NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 39 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GTAACGGTGAGGCTTTTTCAC 0.647000 37 180 6.97489e-18 8.79854e-18 1 1 0 LAMC1 3915 broad.mit.edu 37 1 182993002 182993002 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:182993002A>T ENST00000258341.4 + 1 408 c.151A>T c.(151-153)Atg>Ttg p.M51L NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 51 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGCGCTGCATGCCCGAGTT 0.721000 4 41 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746766 158746766 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:158746766C>T ENST00000339258.1 - 1 659 c.660G>A c.(658-660)agG>agA p.R220R NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CCCCAATGATCCTTGCATAAG 0.418000 16 81 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324549 31324549 + Silent SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:31324549T>C ENST00000269197.5 + 12 4737 c.4737T>C c.(4735-4737)ttT>ttC p.F1579F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTCATAACTTTGCTGAGCAGG 0.468000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0 0 1 0 0 RAB25 57111 broad.mit.edu 37 1 156040024 156040024 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:156040024G>T ENST00000361084.5 + 5 829 c.588G>T c.(586-588)caG>caT p.Q196H NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 196 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) GCAGTGCCCAGGCTGGACAGG 0.612000 15 66 6.72482e-11 7.94363e-11 1 1 0 SLC39A12 221074 broad.mit.edu 37 10 18289726 18289726 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:18289726C>G ENST00000377369.2 + 11 2004 c.1731C>G c.(1729-1731)atC>atG p.I577M SLC39A12_ENST00000377374.4_Missense_Mutation_p.I540M|SLC39A12_ENST00000539911.1_Missense_Mutation_p.I443M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.I576M NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 577 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CGATTGCTATCTTGTGTCATG 0.438000 4 59 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140444638 140444638 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:140444638C>G ENST00000406427.1 - 1 348 c.12G>C c.(10-12)gaG>gaC p.E4D PNPLA7_ENST00000277531.4_Missense_Mutation_p.E4D NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 4 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGTCATCTTTCTCTTCCTCCA 0.547000 16 94 0 0 1 0 0 WEE1 7465 broad.mit.edu 37 11 9608065 9608065 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:9608065G>A ENST00000299613.6 + 9 1653 c.898G>A c.(898-900)Gaa>Aaa p.E300K WEE1_ENST00000450114.2_Missense_Mutation_p.E514K NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 514 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TGCTGGTGCTGAACCTCTTCC 0.393000 33 106 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25479316 25479316 + RNA SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:25479316G>T ENST00000453082.2 + 0 1857 NR_003343.1 CTGACTCCGTGGTCTCCTGCA 0.597000 26 106 1.85244e-09 2.16409e-09 1 1 0 LARP4 113251 broad.mit.edu 37 12 50829272 50829272 + Splice_Site SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:50829272G>A ENST00000398473.2 + 5 512 c.398_splice c.e5-1 p.E134_splice LARP4_ENST00000518561.1_Splice_Site_p.E64_splice|LARP4_ENST00000429001.3_Splice_Site_p.E140_splice|LARP4_ENST00000293618.8_Splice_Site_p.E134_splice|LARP4_ENST00000518444.1_Splice_Site_p.E133_splice|LARP4_ENST00000522085.1_Splice_Site_p.E134_splice|LARP4_ENST00000347328.5_Splice_Site_p.E134_splice NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 134 HTH La-type RNA-binding. nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 TTTTTTCAGAGAAAATTTGTC 0.303000 10 39 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155260453 155260453 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:155260453G>A ENST00000392414.3 - 11 1655 c.1542C>T c.(1540-1542)ttC>ttT p.F514F PKLR_ENST00000342741.4_Silent_p.F545F NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 545 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CAACACGGAGGAAGCCACGGA 0.567000 6 57 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703920 7703920 + Silent SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:7703920G>T ENST00000340209.4 + 9 1173 c.876G>T c.(874-876)gcG>gcT p.A292A RBFOX1_ENST00000355637.4_Silent_p.A307A|RBFOX1_ENST00000552089.1_Silent_p.A304A|RBFOX1_ENST00000547338.1_Silent_p.A287A|RBFOX1_ENST00000422070.4_Silent_p.A330A|RBFOX1_ENST00000550418.1_Silent_p.A287A|RBFOX1_ENST00000436368.2_Silent_p.A307A|RBFOX1_ENST00000311745.5_Silent_p.A307A|RBFOX1_ENST00000553186.1_Silent_p.A260A|RBFOX1_ENST00000535565.2_Silent_p.A244A|RBFOX1_ENST00000547372.1_Silent_p.A330A Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 287 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 gggccgcggcgcccccgcccc 0.741000 7 30 5.18039e-06 5.59452e-06 1 1 0 ANGPTL3 27329 broad.mit.edu 37 1 63069891 63069891 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:63069891C>T ENST00000371129.3 + 6 1263 c.1183C>T c.(1183-1185)Cca>Tca p.P395S ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 395 Fibrinogen C-terminal. acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 CTTCAACTGTCCAGAGGGTTA 0.368000 25 83 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8661426 8661426 + Splice_Site SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:8661426C>A ENST00000270328.4 - 8 1350 c.1084_splice c.e8+1 p.G362_splice ADAMTS10_ENST00000597188.1_Splice_Site_p.G362_splice Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 362 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCTCGGGTACCTAGTGTGCCG 0.607000 9 64 0.00448238 0.00461275 1 1 0 C1orf173 127254 broad.mit.edu 37 1 75065496 75065496 + Missense_Mutation SNP T T G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:75065496T>G ENST00000326665.5 - 11 1827 c.1609A>C c.(1609-1611)Aat>Cat p.N537H RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.N340H NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 537 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGGTCTAAATTATCTTTTTTA 0.403000 48 170 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33375024 33375024 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:33375024C>T ENST00000303296.4 + 17 3863 c.3558C>T c.(3556-3558)atC>atT p.I1186I HIPK3_ENST00000456517.1_Silent_p.I1165I|HIPK3_ENST00000525975.1_Silent_p.I1165I|HIPK3_ENST00000379016.3_Silent_p.I1165I NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1186 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 ACAAACCAATCTTCCCACCAC 0.443000 29 113 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32908421 32908421 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:32908421C>T ENST00000324868.8 - 1 415 c.388G>A c.(388-390)Gag>Aag p.E130K NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 130 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) TCCAGCGCCTCGCGTTCCTTG 0.682000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 24 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189740 47189740 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:47189740G>A ENST00000524782.1 - 11 1232 c.1004C>T c.(1003-1005)gCa>gTa p.A335V ARFGAP2_ENST00000426335.2_Missense_Mutation_p.A199V|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A228V|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.A66V NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 335 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGAGGATTTTGCACTCACTGG 0.532000 20 60 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036316 32036316 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:32036316C>G ENST00000375244.3 - 17 6272 c.6071G>C c.(6070-6072)gGa>gCa p.G2024A TNXB_ENST00000375247.2_Missense_Mutation_p.G2024A P22105 TENX_HUMAN tenascin XB 2106 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTGCCCATCTCCATTCCTGTA 0.602000 7 51 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67766695 67766695 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:67766695G>A ENST00000227471.2 - 5 714 c.635C>T c.(634-636)tCc>tTc p.S212F UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 212 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome GGGCGCGTGGGAGCCCCGCGG 0.602000 12 44 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38102542 38102542 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:38102542G>C ENST00000592533.1 + 5 693 c.361G>C c.(361-363)Gag>Cag p.E121Q ZNF540_ENST00000316433.4_Missense_Mutation_p.E121Q|ZNF540_ENST00000343599.5_Missense_Mutation_p.E121Q|ZNF540_ENST00000589117.1_Missense_Mutation_p.E89Q|ZNF540_ENST00000586792.1_3'UTR NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTAGAAATGAGTGGCAGAA 0.318000 36 181 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75928922 75928922 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:75928922A>T ENST00000262207.4 + 7 1318 c.850A>T c.(850-852)Ata>Tta p.I284L CRISPLD1_ENST00000523524.1_Missense_Mutation_p.I96L|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.I98L NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 284 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) AAATGAAGTCATAAGCGCACA 0.353000 38 194 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31926049 31926049 + Missense_Mutation SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:31926049A>G ENST00000300870.10 + 4 688 c.479A>G c.(478-480)tAt>tGt p.Y160C RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 160 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 GCCAAAAGCTATAACTTTGAT 0.303000 27 55 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52476783 52476783 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:52476783G>C ENST00000261837.7 - 2 156 c.91C>G c.(91-93)Caa>Gaa p.Q31E RP11-430B1.2_ENST00000560518.1_lincRNA NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 31 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) CTGAGTTGTTGAGACTTCTTG 0.388000 35 79 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380277 25380277 + Missense_Mutation SNP G G C rs121913238 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:25380277G>C ENST00000311936.3 - 3 372 c.181C>G c.(181-183)Caa>Gaa p.Q61E KRAS_ENST00000256078.4_Missense_Mutation_p.Q61E|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61K(32)|p.Q61E(10) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TACTCCTCTTGACCTGCTGTG 0.413000 Q61K(CALU6_LUNG) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 71 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52847505 52847505 + Splice_Site SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:52847505C>G ENST00000266041.4 - 24 2821 c.2723_splice c.e24-1 p.E909_splice ITIH4_ENST00000406595.1_Splice_Site_p.E879_splice|ITIH4_ENST00000485816.1_Splice_Site_p.E914_splice|ITIH4_ENST00000346281.5_Splice_Site_p.E893_splice NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 909 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCCTGCGCTCTCTGAAATGG 0.577000 17 63 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451878 138451878 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:138451878G>A ENST00000344876.4 - 1 1751 c.1365C>T c.(1363-1365)atC>atT p.I455I PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.I235I|PCDH18_ENST00000412923.2_Silent_p.I455I NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 455 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGATATCATTGATTTGAACTG 0.408000 26 154 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158906918 158906918 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:158906918C>A ENST00000368140.1 + 2 463 c.218C>A c.(217-219)cCa>cAa p.P73Q PYHIN1_ENST00000392254.2_Missense_Mutation_p.P73Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P73Q|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P73Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P73Q NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 73 DAPIN. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAAGAAATACCAACACTGGGA 0.423000 15 102 6.31663e-08 7.15435e-08 1 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3684093 3684093 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:3684093C>T ENST00000344754.4 - 5 978 c.979G>A c.(979-981)Gag>Aag p.E327K SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E327K NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 327 Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACCTGGACCTCAGCCACTGCA 0.607000 12 50 0 0 1 0 0 MVK 4598 broad.mit.edu 37 12 110029114 110029114 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:110029114G>A ENST00000228510.3 + 9 913 c.837G>A c.(835-837)ctG>ctA p.L279L MVK_ENST00000539696.1_5'UTR|MVK_ENST00000539575.1_Silent_p.L227L|MVK_ENST00000392727.3_Silent_p.L227L|MVK_ENST00000541384.1_Silent_p.L85L NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 279 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 AGCGCGTGCTGGGAGAGATGG 0.592000 12 60 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922997 24922997 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:24922997C>A ENST00000329468.2 + 1 2457 c.1983C>A c.(1981-1983)ctC>ctA p.L661L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AAGCTTCTCTCCCCAGTGCCT 0.512000 22 142 3.5997e-14 4.44282e-14 1 1 0 MGRN1 23295 broad.mit.edu 37 16 4731653 4731653 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:4731653G>A ENST00000399577.5 + 13 1327 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K MGRN1_ENST00000588994.1_Missense_Mutation_p.E390K|MGRN1_ENST00000415496.1_Missense_Mutation_p.E391K|MGRN1_ENST00000262370.7_Missense_Mutation_p.E412K|MGRN1_ENST00000586183.1_Missense_Mutation_p.E390K NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 412 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CCCTCTTTATGAAGAAATCAC 0.652000 19 62 0 0 1 0 0 TESK1 7016 broad.mit.edu 37 9 35607664 35607664 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:35607664G>A ENST00000336395.5 + 6 956 c.706G>A c.(706-708)Gag>Aag p.E236K TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 236 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTGTATGATGAGAAGGTGAG 0.577000 15 57 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120838024 120838024 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:120838024G>C ENST00000527524.2 + 19 2674 c.2387G>C c.(2386-2388)aGa>aCa p.R796T GRIK4_ENST00000438375.2_Missense_Mutation_p.R796T Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 796 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GAAGATCACAGAGCTAAAGGT 0.512000 5 40 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121046 38121046 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:38121046C>G ENST00000406386.3 + 7 2738 c.2483C>G c.(2482-2484)tCt>tGt p.S828C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 828 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGATCATCTTCTACCCAACAA 0.507000 6 121 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7480459 7480459 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:7480459G>A ENST00000399429.3 - 21 1824 c.1684C>T c.(1684-1686)Caa>Taa p.Q562* NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 562 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CTCTGTCCTTGATTTCCTTTG 0.403000 7 92 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950876 14950876 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:14950876G>A ENST00000453695.2 - 14 1694 c.1250C>T c.(1249-1251)tCt>tTt p.S417F DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S422F|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S417F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S422F|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.S190F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S417F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S417F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S422F|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S537F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S417F NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 537 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 TGACTGGGAAGAATTCTGGGA 0.458000 Non-homologous end-joining 15 81 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1219335 1219335 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:1219335G>T ENST00000326873.7 + 3 1560 c.387G>T c.(385-387)atG>atT p.M129I STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 129 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) ATATGGTGATGGAGTACTGCG 0.667000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 5 0.00909568 0.00925766 1 1 0 ARHGAP20 57569 broad.mit.edu 37 11 110451175 110451175 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:110451175G>T ENST00000260283.4 - 16 2779 c.2495C>A c.(2494-2496)aCa>aAa p.T832K ARHGAP20_ENST00000357139.3_Missense_Mutation_p.T806K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.T806K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.T796K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.T796K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.T375K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.T809K NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 832 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GGCATCTGCTGTGTGTGGTGG 0.502000 25 96 4.26978e-12 5.10861e-12 1 1 0 ERC1 23085 broad.mit.edu 37 12 1192399 1192399 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:1192399C>T ENST00000397203.2 + 3 1145 c.739C>T c.(739-741)Cag>Tag p.Q247* ERC1_ENST00000546231.2_Nonsense_Mutation_p.Q247*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.Q247*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.Q247*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.Q247*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.Q247* Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 247 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TCAGCTGTTTCAGCAGGATAG 0.507000 13 107 0 0 1 0 0 RWDD2B 10069 broad.mit.edu 37 21 30378926 30378926 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:30378926C>T ENST00000493196.1 - 5 872 c.772G>A c.(772-774)Gac>Aac p.D258N RWDD2B_ENST00000486719.1_5'UTR NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B 258 endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 AAAGGAATGTCTTCTCGATGG 0.323000 4 40 0 0 1 0 0 TESK1 7016 broad.mit.edu 37 9 35607591 35607591 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:35607591G>T ENST00000336395.5 + 6 883 c.633G>T c.(631-633)agG>agT p.R211S TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 211 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGGGGCAAGGAAGGAGCCAT 0.592000 19 99 2.37509e-13 2.8882e-13 1 1 0 ERN2 10595 broad.mit.edu 37 16 23711921 23711921 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:23711921C>A ENST00000256797.4 - 13 1776 c.1608G>T c.(1606-1608)cgG>cgT p.R536R ERN2_ENST00000457008.2_Silent_p.R436R NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 488 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TCTGGCTCCTCCGGCTGGCCC 0.622000 39 102 4.17593e-13 5.06153e-13 1 1 0 ZBED4 9889 broad.mit.edu 37 22 50278846 50278846 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:50278846G>A ENST00000216268.4 + 2 2013 c.1536G>A c.(1534-1536)caG>caA p.Q512Q NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 512 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TCGGGAGCCAGAAGGGCTTCC 0.567000 25 111 0 0 1 0 0 MGAT4B 11282 broad.mit.edu 37 5 179225254 179225254 + Missense_Mutation SNP C C G rs138931499 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:179225254C>G ENST00000337755.5 - 13 2465 c.1579G>C c.(1579-1581)Gag>Cag p.E527Q MGAT4B_ENST00000292591.7_Missense_Mutation_p.E512Q NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 512 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTCTCCCTCTGCCACTCCC 0.647000 9 13 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14775721 14775721 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:14775721G>A ENST00000403951.2 - 5 686 c.267C>T c.(265-267)aaC>aaT p.N89N DGKB_ENST00000399322.3_Silent_p.N89N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Silent_p.N89N|DGKB_ENST00000407950.1_Silent_p.N82N|DGKB_ENST00000406247.3_Silent_p.N89N|DGKB_ENST00000402815.1_Silent_p.N89N|DGKB_ENST00000444700.2_Silent_p.N82N Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 89 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|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GAGGAAACTTGTTGCTAAATG 0.358000 5 17 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1980533 1980533 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:1980533C>T ENST00000382895.3 + 24 4426 c.3995C>T c.(3994-3996)tCg>tTg p.S1332L WHSC1_ENST00000508803.1_Missense_Mutation_p.S1332L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.S680L|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1332L|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1332L NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1332 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGGCGGCATCGGTCAGAAGC 0.647000 T IGH@ MM 11 40 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90144605 90144605 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:90144605G>A ENST00000268138.7 + 10 2335 c.2230G>A c.(2230-2232)Gaa>Aaa p.E744K TICRR_ENST00000560985.1_Missense_Mutation_p.E743K TOPBP1-interacting checkpoint and replication regulator AGATGATATGGAACAAGTAGT 0.418000 17 79 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234858761 234858761 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:234858761G>A ENST00000324695.4 + 9 1151 c.1111G>A c.(1111-1113)Gag>Aag p.E371K TRPM8_ENST00000433712.2_Missense_Mutation_p.E59K|AC005538.5_ENST00000455991.1_RNA NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 371 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCGGCTGCCTGAGGAGGAGAC 0.537000 4 21 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128883 6128883 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:6128883C>A ENST00000261405.5 - 28 3955 c.3701G>T c.(3700-3702)tGt>tTt p.C1234F NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1234 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCAGGCTTCACAGGTGAGGTT 0.557000 8 20 0.00307968 0.00317806 1 1 0 LOC440040 440040 broad.mit.edu 37 11 49831554 49831554 + RNA SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:49831554G>T ENST00000527477.1 + 0 1779 TATATATGGAGAGGAGGGACT 0.453000 18 46 5.03518e-11 5.96673e-11 1 1 0 RGP1 9827 broad.mit.edu 37 9 35752111 35752111 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:35752111C>T ENST00000378078.4 + 8 1062 c.921C>T c.(919-921)ctC>ctT p.L307L RGP1_ENST00000456972.2_Silent_p.L347L NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 307 p.L307L(1)|p.L347L(1) cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAATCCCTCTCAGCTCCACCC 0.567000 10 34 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134884458 134884458 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:134884458G>T ENST00000607359.1 + 1 26 c.26G>T c.(25-27)cGg>cTg p.R9L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AACCACTCGCGGCTGAAATCC 0.647000 5 13 3.59834e-05 3.83582e-05 1 1 0 STAB1 23166 broad.mit.edu 37 3 52543237 52543237 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:52543237G>C ENST00000321725.6 + 22 2323 c.2247G>C c.(2245-2247)ggG>ggC p.G749G NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 749 EGF-like 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCAGTGATGGGATCCAGGGCA 0.572000 7 44 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34311019 34311019 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:34311019C>T ENST00000379166.2 - 2 445 c.326G>A c.(325-327)aGa>aAa p.R109K KIF24_ENST00000345050.2_Missense_Mutation_p.R109K|KIF24_ENST00000379174.3_Missense_Mutation_p.R109K|KIF24_ENST00000402558.2_Missense_Mutation_p.R109K NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 109 R -> G (in dbSNP:rs41274845). microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GCTGGCATTTCTGTCTTTATT 0.428000 9 44 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112616996 112616996 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:112616996C>T ENST00000550722.1 - 63 11150 c.10755G>A c.(10753-10755)ctG>ctA p.L3585L HECTD4_ENST00000430131.2_Silent_p.L3309L|HECTD4_ENST00000377560.5_Silent_p.L3559L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTGATCCTCCAGCACCTTTT 0.602000 8 18 0 0 1 0 0 ELP6 54859 broad.mit.edu 37 3 47539857 47539857 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:47539857C>T ENST00000296149.4 - 6 761 c.591G>A c.(589-591)ctG>ctA p.L197L ELP6_ENST00000446787.1_Silent_p.L124L|ELP6_ENST00000439305.1_Silent_p.L124L NM_001031703.2 NP_001026873.2 elongator acetyltransferase complex subunit 6 TGAGGCCATTCAGCAGGATGT 0.577000 34 65 0 0 1 0 0 SMUG1 23583 broad.mit.edu 37 12 54577482 54577482 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:54577482G>A ENST00000505128.1 - 3 365 c.243C>T c.(241-243)ttC>ttT p.F81F SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000514685.1_Silent_p.F81F|SMUG1_ENST00000401977.2_Silent_p.F81F|SMUG1_ENST00000243112.5_Silent_p.F81F|SMUG1_ENST00000508394.2_Silent_p.F81F|SMUG1_ENST00000513838.1_Silent_p.F81F|SMUG1_ENST00000514196.1_Silent_p.F81F|SMUG1_ENST00000337581.3_Silent_p.F81F|SMUG1_ENST00000506595.1_Silent_p.F81F Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 81 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 TCATGCCCAGGAAGAGTACTT 0.587000 Base excision repair (BER), DNA glycosylases 5 52 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588854 247588854 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:247588854G>T ENST00000366497.2 + 4 2889 c.2109G>T c.(2107-2109)atG>atT p.M703I NLRP3_ENST00000348069.2_Missense_Mutation_p.M703I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.M703I|NLRP3_ENST00000366496.2_Missense_Mutation_p.M703I|NLRP3_ENST00000391828.3_Missense_Mutation_p.M703I|NLRP3_ENST00000336119.3_Missense_Mutation_p.M703I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 703 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACCTTGATATGGTGCAGTGTG 0.547000 14 83 7.93312e-07 8.74527e-07 1 1 0 SMOX 54498 broad.mit.edu 37 20 4163347 4163347 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:4163347G>A ENST00000305958.4 + 5 1446 c.1221G>A c.(1219-1221)aaG>aaA p.K407K SMOX_ENST00000339123.6_Silent_p.K354K|SMOX_ENST00000278795.3_Silent_p.K354K|SMOX_ENST00000379460.2_Silent_p.K407K|SMOX_ENST00000346595.2_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 407 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GGTACCGCAAGATCTGCGGCT 0.612000 18 46 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757003 757003 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:757003C>T ENST00000215582.6 + 2 160 c.57C>T c.(55-57)acC>acT p.T19T NM_173481.2 NP_775752.1 mitotic spindle positioning ACCGTGGCACCGGCCTGGTGC 0.662000 4 15 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111658818 111658818 + Silent SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:111658818A>G ENST00000374647.5 - 25 3001 c.2694T>C c.(2692-2694)taT>taC p.Y898Y IKBKAP_ENST00000537196.1_Silent_p.Y549Y NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 898 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AATCAAAGTCATAGGTGCCAA 0.393000 21 82 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 17978481 17978481 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:17978481G>A ENST00000262608.8 + 3 322 c.322G>A c.(322-324)Gaa>Aaa p.E108K CECR2_ENST00000400573.4_Missense_Mutation_p.E127K|CECR2_ENST00000342247.5_Missense_Mutation_p.E107K|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 149 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GCCATTGGGTGAAGACAATTC 0.488000 16 42 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684575 3684575 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:3684575C>A ENST00000344754.4 - 4 869 c.870G>T c.(868-870)ctG>ctT p.L290L SIGLEC1_ENST00000202578.4_Silent_p.L290L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 290 Ig-like C2-type 2. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGGGCAGGTGCAGCACACCAG 0.597000 6 56 8.12818e-05 8.62749e-05 1 1 0 SYT10 341359 broad.mit.edu 37 12 33579171 33579171 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:33579171G>A ENST00000228567.3 - 2 707 c.411C>T c.(409-411)tcC>tcT p.S137S SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 137 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GGATGTCAGGGGAAGTGTGGC 0.393000 31 204 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1808320 1808320 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:1808320C>G ENST00000340107.4 + 16 2340 c.2084C>G c.(2083-2085)tCc>tGc p.S695C FGFR3_ENST00000412135.2_Missense_Mutation_p.S581C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S693C|FGFR3_ENST00000481110.2_Silent_p.L670L|FGFR3_ENST00000352904.1_Missense_Mutation_p.S581C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S693C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 693 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTGGGGGGCTCCCCGTACCCC 0.637000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 7 37 0 0 1 0 0 C3orf58 205428 broad.mit.edu 37 3 143704687 143704687 + Splice_Site SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:143704687A>T ENST00000315691.3 + 2 1495 c.961_splice c.e2+1 p.Q320_splice C3orf58_ENST00000495414.1_Splice_Site_p.Q111_splice|C3orf58_ENST00000441925.2_Splice_Site_p.Q82_splice|C3orf58_ENST00000493396.1_Intron NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 320 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TAATTAGACAAAGTAAGTATA 0.313000 20 66 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097305 107097305 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:107097305C>T ENST00000261058.1 + 1 1118 c.871C>T c.(871-873)Cag>Tag p.Q291* NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 291 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GGTCATAACCCAGAGATACTG 0.418000 28 99 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202050731 202050731 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:202050731C>A ENST00000286186.6 + 2 666 c.231C>A c.(229-231)ttC>ttA p.F77L CASP10_ENST00000448480.1_Missense_Mutation_p.F77L|CASP10_ENST00000374650.3_Missense_Mutation_p.F77L|CASP10_ENST00000360132.3_Missense_Mutation_p.F77L|CASP10_ENST00000272879.5_Missense_Mutation_p.F77L|CASP10_ENST00000313728.7_Missense_Mutation_p.F77L|CASP10_ENST00000346817.5_Missense_Mutation_p.F77L|CASP10_ENST00000492363.1_3'UTR NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 77 DED 1. apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AAGACCCTTTCTTCCTGGCAG 0.512000 7 54 8.12818e-05 8.62749e-05 1 1 0 ARMCX1 51309 broad.mit.edu 37 X 100809149 100809149 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrX:100809149C>T ENST00000372829.3 + 4 1607 c.1236C>T c.(1234-1236)ttC>ttT p.F412F NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 412 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GGAAAGAATTCAGCAGAAGTT 0.338000 23 29 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 5 87 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20959395 20959395 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:20959395G>T ENST00000298925.5 + 11 1298 c.1145G>T c.(1144-1146)cGg>cTg p.R382L NELL1_ENST00000532434.1_Missense_Mutation_p.R354L|NELL1_ENST00000325319.5_Missense_Mutation_p.R297L|NELL1_ENST00000357134.5_Missense_Mutation_p.R354L Q92832 NELL1_HUMAN NEL-like 1 (chicken) 354 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AAGAGCTGTCGGGAATGCCGA 0.408000 10 95 1.08611e-07 1.21533e-07 1 1 0 LUZP2 338645 broad.mit.edu 37 11 24759829 24759829 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:24759829C>A ENST00000533227.1 + 4 343 c.56C>A c.(55-57)gCa>gAa p.A19E LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.A105E NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 105 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TCAGAGAAAGCAGAAAAACAC 0.378000 8 49 3.09899e-07 3.44693e-07 1 1 0 OR5R1 219479 broad.mit.edu 37 11 56185378 56185378 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:56185378C>A ENST00000312253.1 - 1 330 c.331G>T c.(331-333)Gag>Tag p.E111* NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AGGAAACACTCAGTGATCATG 0.453000 14 78 3.27435e-08 3.72564e-08 1 1 0 CUL2 8453 broad.mit.edu 37 10 35333508 35333508 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:35333508G>A ENST00000374748.1 - 9 1013 c.700C>T c.(700-702)Cag>Tag p.Q234* CUL2_ENST00000374749.3_Nonsense_Mutation_p.Q234*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.Q234*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.Q177*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.Q234*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.Q253*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.Q234* Q13617 CUL2_HUMAN cullin 2 234 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 TCCATATACTGTGAGCAGTTT 0.303000 22 62 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160742944 160742944 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:160742944G>A ENST00000263636.4 - 5 927 c.900C>T c.(898-900)ctC>ctT p.L300L LY75_ENST00000554112.1_Silent_p.L300L|LY75_ENST00000553424.1_Silent_p.L300L|LY75-CD302_ENST00000505052.1_Silent_p.L300L|LY75-CD302_ENST00000504764.1_Silent_p.L300L NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GATCCCAGTTGAGAAAGTTTA 0.408000 13 83 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67023852 67023852 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:67023852G>A ENST00000340001.4 - 13 1931 c.1720C>T c.(1720-1722)Ctc>Ttc p.L574F ABCA9_ENST00000453985.2_Missense_Mutation_p.L574F|ABCA9_ENST00000370732.2_Missense_Mutation_p.L574F NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 574 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTCACAGTGAGAAATCCAAAT 0.373000 19 84 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124882710 124882710 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:124882710C>T ENST00000356219.3 - 17 1986 c.1831G>A c.(1831-1833)Gag>Aag p.E611K NCOR2_ENST00000429285.2_Missense_Mutation_p.E610K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E610K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E611K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E181K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E611K NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 611 SANT 2. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGAGAACTCTCATTCAGCTCC 0.532000 12 75 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30672297 30672297 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:30672297C>T ENST00000534862.1 + 9 1089 c.726C>T c.(724-726)ctC>ctT p.L242L HCK_ENST00000375852.2_Silent_p.L262L|HCK_ENST00000538448.1_Silent_p.L241L|HCK_ENST00000520553.1_Silent_p.L241L|HCK_ENST00000518730.1_Silent_p.L240L|HCK_ENST00000375862.2_Silent_p.L261L NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 262 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGAATCCCTCAAGCTGGAGA 0.612000 5 71 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21479329 21479329 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:21479329G>T ENST00000313654.9 + 47 6155 c.5914G>T c.(5914-5916)Gaa>Taa p.E1972* LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.E363* NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1972 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAGTGGGCTGAAGCCCAGCG 0.488000 10 47 7.48243e-07 8.27298e-07 1 1 0 SNX10 29887 broad.mit.edu 37 7 26411631 26411631 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:26411631G>A ENST00000338523.4 + 6 689 c.502G>A c.(502-504)Gat>Aat p.D168N SNX10_ENST00000409367.1_Missense_Mutation_p.D128N|SNX10_ENST00000409838.1_Missense_Mutation_p.D84N|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000396376.1_Missense_Mutation_p.D168N|SNX10_ENST00000446848.2_Missense_Mutation_p.D194N NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 168 cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 AAAAGAAAATGATATAGATTA 0.308000 7 65 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600576 1600576 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:1600576G>A ENST00000381605.4 - 1 79 c.15C>T c.(13-15)gcC>gcT p.A5A SIRPB1_ENST00000568365.1_Silent_p.A5A|RP4-576H24.4_ENST00000564763.1_Silent_p.A5A|SIRPB1_ENST00000279477.7_Silent_p.A5A|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.A5A NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 5 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGGGCCAGGAGGCTGGCACGG 0.562000 5 51 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265843 1265843 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:1265843C>T ENST00000447027.1 + 31 7800 c.7742C>T c.(7741-7743)aCa>aTa p.T2581I MUC5B_ENST00000529681.1_Missense_Mutation_p.T2578I|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2578 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACACCTCCACAGTGCTTACC 0.642000 36 137 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5948643 5948643 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:5948643G>T ENST00000378896.3 + 10 1572 c.1195G>T c.(1195-1197)Gaa>Taa p.E399* MCM8_ENST00000378883.1_Nonsense_Mutation_p.E399*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.E383*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.E399* NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 399 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 GATTCAAGCTGAAGAAAACCT 0.378000 46 114 6.14515e-18 7.76504e-18 1 1 0 CITED1 4435 broad.mit.edu 37 X 71522722 71522722 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chrX:71522722C>T ENST00000431381.1 - 3 273 c.76G>A c.(76-78)Gaa>Aaa p.E26K CITED1_ENST00000246139.5_5'UTR|CITED1_ENST00000373619.3_5'UTR|CITED1_ENST00000445983.1_5'UTR NM_001144885.1 NP_001138357.1 Q99966 CITE1_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 0 apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway cytosol|nucleus chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding skin(1) 1 Renal(35;0.156) GTTGGCATTTCAGAGCCTTGG 0.517000 7 7 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179959751 179959751 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:179959751G>C ENST00000367607.3 + 4 648 c.230G>C c.(229-231)aGa>aCa p.R77T NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 77 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AAAATAAGTAGAAAAGGTATG 0.348000 4 13 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087676 47087676 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:47087676G>A ENST00000374312.1 + 3 1312 c.893G>A c.(892-894)tGc>tAc p.C298Y NPY4R_ENST00000395716.1_Missense_Mutation_p.C298Y NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 ATCCCCATCTGCCACGGGAAC 0.552000 5 82 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90770363 90770363 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:90770363G>A ENST00000354366.3 - 5 1153 c.921C>T c.(919-921)ctC>ctT p.L307L NRDE2_ENST00000357904.3_Silent_p.L76L NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CCTTGGCCTTGAGAGCCGCAC 0.537000 26 107 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57953345 57953345 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:57953345G>A ENST00000334181.4 + 2 358 c.108G>A c.(106-108)gtG>gtA p.V36V AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) ACAGCAATGTGATGTTGGAGA 0.453000 21 148 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82868655 82868655 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:82868655C>T ENST00000298281.4 + 1 626 c.174C>T c.(172-174)atC>atT p.I58I NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 58 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TCTCTCTCATCGAGGCCCAAA 0.517000 21 107 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035918 37035918 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:37035918G>A ENST00000379242.3 + 15 1995 c.1693G>A c.(1693-1695)Gac>Aac p.D565N VIT_ENST00000401530.1_Missense_Mutation_p.D529N|VIT_ENST00000379241.3_Missense_Mutation_p.D528N|VIT_ENST00000389975.3_Missense_Mutation_p.D550N|VIT_ENST00000404084.1_Missense_Mutation_p.D502N|VIT_ENST00000497382.1_Missense_Mutation_p.D219N NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 550 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GTTTGGGTTCGACAAGTACAG 0.582000 12 66 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124266021 124266021 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:124266021C>G ENST00000395571.3 - 3 2783 c.2166G>C c.(2164-2166)tgG>tgC p.W722C ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.W722C|ZHX1_ENST00000522655.1_Missense_Mutation_p.W722C NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 722 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AGTAGTAGTACCATTTCAAGT 0.463000 28 96 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135413007 135413007 + Missense_Mutation SNP G G A rs147127318 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:135413007G>A ENST00000343036.2 + 5 700 c.652G>A c.(652-654)Gat>Aat p.D218N C9orf171_ENST00000393216.2_Missense_Mutation_p.D182N NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 218 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 ACCCTTCTTTGATCTGCTGCA 0.602000 16 85 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44101405 44101405 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:44101405G>A ENST00000344290.5 + 15 2521 c.2199G>A c.(2197-2199)gtG>gtA p.V733V MAPT_ENST00000574436.1_Silent_p.V398V|MAPT_ENST00000262410.5_Silent_p.V715V|MAPT_ENST00000576518.1_Silent_p.V298V|MAPT_ENST00000415613.2_Silent_p.V733V|MAPT_ENST00000446361.3_Silent_p.V340V|MAPT_ENST00000535772.1_Silent_p.V367V|MAPT_ENST00000431008.3_Silent_p.V367V|MAPT_ENST00000347967.5_Silent_p.V273V|MAPT_ENST00000420682.2_Silent_p.V369V|MAPT_ENST00000340799.5_Silent_p.V369V|MAPT_ENST00000571987.1_Silent_p.V715V|MAPT_ENST00000351559.5_Silent_p.V398V|MAPT_ENST00000334239.8_Silent_p.V309V NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 715 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGTCGCCAGTGGTGTCTGGGG 0.597000 34 112 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431372 56431372 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:56431372C>A ENST00000302969.2 + 1 235 c.211C>A c.(211-213)Ctg>Atg p.L71M NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CTTTGTTGACCTGGGCTACTC 0.453000 14 274 1.5842e-08 1.83058e-08 1 1 0 HES4 57801 broad.mit.edu 37 1 934952 934952 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:934952C>T ENST00000428771.2 - 2 522 c.324G>A c.(322-324)gaG>gaA p.E108E HES4_ENST00000304952.6_Silent_p.E82E|HES4_ENST00000484667.2_Silent_p.E50E NM_001142467.1|NM_021170.3 NP_001135939.1|NP_066993.1 Q9HCC6 HES4_HUMAN hes family bHLH transcription factor 4 82 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding lung(2) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCACGGTCATCTCCAGGATGT 0.736000 7 17 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153259073 153259073 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:153259073C>A ENST00000281708.4 - 5 1971 c.742G>T c.(742-744)Gag>Tag p.E248* FBXW7_ENST00000393956.3_Nonsense_Mutation_p.E72*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.E248*|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.E168*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.E130*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.E248* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 248 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGCAATTTCTCTGGTCCACTC 0.353000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 31 66 1.62565e-12 1.96081e-12 1 1 0 C1QL3 389941 broad.mit.edu 37 10 16562717 16562717 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:16562717G>C ENST00000298943.3 - 1 1287 c.348C>G c.(346-348)atC>atG p.I116M NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 116 collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TGGCGGCGCTGATGGCCCCGG 0.741000 10 28 0 0 1 0 0 KNOP1 400506 broad.mit.edu 37 16 19721887 19721887 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:19721887C>T ENST00000219837.7 - 4 1087 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K KNOP1_ENST00000568230.1_Missense_Mutation_p.E16K|AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 TCGATCTCTTCTTGCAAGGCC 0.557000 28 96 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104901911 104901911 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:104901911C>T ENST00000533400.1 - 4 469 c.434G>A c.(433-435)tGg>tAg p.W145* CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Nonsense_Mutation_p.W124*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.W145*|CASP1_ENST00000393136.4_Nonsense_Mutation_p.W124*|CASP1_ENST00000594519.1_Nonsense_Mutation_p.W52*|CASP1_ENST00000534497.1_Nonsense_Mutation_p.W52*|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Nonsense_Mutation_p.W106*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.W108*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.W52*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.W124*|CASP1_ENST00000446369.1_Nonsense_Mutation_p.W52*|CASP1_ENST00000436863.3_Nonsense_Mutation_p.W145* NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 145 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) CTTTTGTTTCCATATCCTTTG 0.502000 5 40 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16736388 16736388 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:16736388G>A ENST00000335496.1 - 6 777 c.295C>T c.(295-297)Cat>Tat p.H99Y SPATA21_ENST00000540400.1_Missense_Mutation_p.H76Y|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 99 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCTCTCCGATGGGAGGCCTCC 0.662000 15 29 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109679000 109679000 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:109679000C>T ENST00000338432.7 + 36 5055 c.4936C>T c.(4936-4938)Ccc>Tcc p.P1646S ACACB_ENST00000377854.5_Missense_Mutation_p.P1576S|ACACB_ENST00000377848.3_Missense_Mutation_p.P1646S|ACACB_ENST00000543201.1_Missense_Mutation_p.P312S O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1646 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CAGTGCCGTTCCCATCCGCCT 0.562000 61 190 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183446516 183446516 + Nonsense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:183446516C>G ENST00000305135.5 + 7 884 c.689C>G c.(688-690)tCa>tGa p.S230* NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 230 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AATGACCAGTCAACTCATAAG 0.378000 6 81 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30050647 30050647 + Splice_Site SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:30050647A>G ENST00000338641.4 + 5 890 c.447_splice c.e5-1 p.Y150_splice NF2_ENST00000361166.4_Splice_Site_p.Y150_splice|NF2_ENST00000403435.1_Splice_Site_p.Y150_splice|NF2_ENST00000361452.4_Splice_Site_p.Y109_splice|NF2_ENST00000361676.4_Splice_Site_p.Y108_splice|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Splice_Site_p.Y67_splice|NF2_ENST00000403999.3_Splice_Site_p.Y150_splice|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Splice_Site_p.Y150_splice|NF2_ENST00000334961.7_Splice_Site_p.Y67_splice NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 150 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(4)|p.Y150fs*46(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 TCTTTCCAGTATGGTGACTAC 0.463000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 51 174 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130831817 130831817 + Nonstop_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:130831817C>A ENST00000357462.5 - 15 3321 c.3228G>T c.(3226-3228)taG>taT p.*1076Y POTEF_ENST00000409914.2_Nonstop_Mutation_p.*1076Y A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 0 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGAGTCCACCTACAAGCATT 0.473000 70 153 3.00167e-28 3.83203e-28 1 1 0 PRRG4 79056 broad.mit.edu 37 11 32858356 32858356 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:32858356G>A ENST00000257836.3 + 3 509 c.256G>A c.(256-258)Gaa>Aaa p.E86K NM_024081.5 NP_076986.1 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 86 Gla. extracellular region|Golgi apparatus|integral to membrane calcium ion binding p.E86*(1) large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 7 Breast(20;0.206) TTTTGTGGATGAAGATAAAAC 0.358000 18 60 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730633 57730633 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:57730633C>T ENST00000281282.5 + 2 514 c.436C>T c.(436-438)Cag>Tag p.Q146* NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 146 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GCTGAACTTTCAGAGGCATCC 0.458000 16 94 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160326973 160326973 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:160326973C>G ENST00000368063.1 + 17 2157 c.1877C>G c.(1876-1878)tCt>tGt p.S626C NCSTN_ENST00000535857.1_Missense_Mutation_p.S508C|NCSTN_ENST00000294785.5_Missense_Mutation_p.S646C|NCSTN_ENST00000368065.4_Missense_Mutation_p.S388C|NCSTN_ENST00000392212.4_Missense_Mutation_p.S626C Q92542 NICA_HUMAN nicastrin 646 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTGAATACTCTACATGGACT 0.562000 14 83 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11851273 11851273 + Missense_Mutation SNP C C T rs45590836 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:11851273C>T ENST00000376592.1 - 10 1871 c.1743G>A c.(1741-1743)atG>atA p.M581I MTHFR_ENST00000376583.3_Missense_Mutation_p.M622I|MTHFR_ENST00000376585.1_Missense_Mutation_p.M622I|MTHFR_ENST00000376590.3_Missense_Mutation_p.M581I P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 581 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CCTTCCAGAACATGAAGCTGA 0.602000 16 61 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070147 60070147 + Missense_Mutation SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:60070147A>G ENST00000355131.3 + 6 669 c.446A>G c.(445-447)tAt>tGt p.Y149C MS4A4A_ENST00000337908.4_Missense_Mutation_p.Y168C|MS4A4A_ENST00000395016.3_Missense_Mutation_p.Y149C|MS4A4A_ENST00000532114.1_Intron NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 168 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TGTAACTACTATGGCAACTCA 0.408000 17 63 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195984696 195984696 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:195984696G>A ENST00000292823.2 - 4 352 c.180C>T c.(178-180)gtC>gtT p.V60V PCYT1A_ENST00000431016.1_Silent_p.V60V|PCYT1A_ENST00000419333.1_Silent_p.V60V|PCYT1A_ENST00000491544.1_5'UTR NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 60 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TAGTTACCCTGACATAGGGCT 0.368000 13 53 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772753 140772753 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:140772753G>C ENST00000398604.2 + 1 373 c.373G>C c.(373-375)Gat>Cat p.D125H PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAATAATTGATATTAACGA 0.428000 12 83 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105446691 105446691 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:105446691C>T ENST00000258494.9 - 11 1446 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E436K NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 436 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 ACCATGATTTCATTGACCTCC 0.363000 OREG0022073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 51 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37516041 37516041 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:37516041G>A ENST00000432825.2 - 10 2604 c.2556C>T c.(2554-2556)atC>atT p.I852I RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.I377I NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 852 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCCGCACGGCGATGCCGTAGG 0.552000 22 43 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46860001 46860001 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:46860001G>A ENST00000262738.3 - 2 3785 c.3786C>T c.(3784-3786)ttC>ttT p.F1262F CELSR1_ENST00000395964.1_Silent_p.F1262F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1262 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCAGCGCCGAGAAGGTCACGT 0.632000 14 46 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38032984 38032984 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:38032984G>A ENST00000377940.3 + 7 1012 c.873G>A c.(871-873)caG>caA p.Q291Q ZPBP2_ENST00000584588.1_Silent_p.Q240Q|ZPBP2_ENST00000348931.4_Silent_p.Q313Q NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 313 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TAACTTGTCAGACCTGCGTTT 0.378000 17 229 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31653772 31653772 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:31653772G>T ENST00000395934.2 + 7 754 c.747G>T c.(745-747)caG>caT p.Q249H ELP4_ENST00000379163.5_Missense_Mutation_p.Q250H|ELP4_ENST00000350638.5_Missense_Mutation_p.Q249H Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 249 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) AGAAAAAACAGAGAAACATTT 0.333000 8 57 0.000157383 0.000166102 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228881246 228881246 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:228881246C>T ENST00000392056.3 - 7 4370 c.4324G>A c.(4324-4326)Gaa>Aaa p.E1442K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1442K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1442 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGTTCAGGTTCCCCAGCACAG 0.498000 9 93 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430751 37430751 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:37430751T>A ENST00000374660.1 + 7 857 c.758T>A c.(757-759)tTg>tAg p.L253* ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.L253*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.L253* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 309 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCTGCACCCTTGGTGGAAAGA 0.498000 18 41 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063871 9063871 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:9063871C>T ENST00000397910.4 - 3 23778 c.23575G>A c.(23575-23577)Gct>Act p.A7859T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7861 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAGTAGTAGCACCAGTGGGC 0.557000 19 74 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32832633 32832633 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:32832633G>A ENST00000421745.2 + 72 14316 c.14182G>A c.(14182-14184)Gat>Aat p.D4728N NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4728 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TCGAGAATATGATGGAAACAT 0.403000 19 99 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1219336 1219336 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:1219336G>T ENST00000326873.7 + 3 1561 c.388G>T c.(388-390)Gag>Tag p.E130* STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 130 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TATGGTGATGGAGTACTGCGT 0.667000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 3 5 0.004672 0.0047814 1 1 0 POLG 5428 broad.mit.edu 37 15 89864473 89864473 + Missense_Mutation SNP C C T rs121918047 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:89864473C>T ENST00000268124.5 - 17 2950 c.2617G>A c.(2617-2619)Gag>Aag p.E873K POLG_ENST00000442287.2_Missense_Mutation_p.E873K NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 873 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GCTTTCAACTCACTGCCTACT 0.562000 DNA polymerases (catalytic subunits) 16 60 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200635800 200635800 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:200635800C>G ENST00000447706.2 - 2 220 c.69G>C c.(67-69)aaG>aaC p.K23N DDX59_ENST00000331314.6_Missense_Mutation_p.K23N|DDX59_ENST00000367348.3_Missense_Mutation_p.K23N Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 23 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 GTTTAATTATCTTAGCCACAC 0.383000 11 231 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97873911 97873911 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:97873911C>G ENST00000447648.2 - 5 802 c.503G>C c.(502-504)aGa>aCa p.R168T TECPR1_ENST00000379795.3_Missense_Mutation_p.R168T|TECPR1_ENST00000542604.1_Missense_Mutation_p.R89T Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 168 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGACTTGTATCTCCTGTACCG 0.572000 22 57 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102040645 102040645 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:102040645C>T ENST00000549145.1 + 12 1134 c.1034C>T c.(1033-1035)tCc>tTc p.S345F MYBPC1_ENST00000547405.1_Missense_Mutation_p.S306F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S332F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S332F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S332F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S319F|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S332F|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S332F|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S318F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S320F|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S357F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S313F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S332F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S357F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S233F Q00872 MYPC1_HUMAN myosin binding protein C, slow type 332 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GAGAAATGTTCCACTGAGCTC 0.403000 5 82 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64984838 64984838 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:64984838C>T ENST00000394156.3 - 12 2179 c.1726G>A c.(1726-1728)Gat>Aat p.D576N CDH11_ENST00000268603.4_Missense_Mutation_p.D576N|CDH11_ENST00000566827.1_Missense_Mutation_p.D450N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 576 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ATGCCGCCATCGCTGATCACT 0.602000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 9 31 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28610085 28610085 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:28610085C>T ENST00000357727.2 + 5 784 c.394C>T c.(394-396)Cag>Tag p.Q132* CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q125*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q99*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q99* NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 132 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CGTTGTGATTCAGCAAGCCAT 0.602000 26 69 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34572668 34572668 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:34572668G>A ENST00000373973.3 + 6 857 c.684G>A c.(682-684)caG>caA p.Q228Q CNBD2_ENST00000349339.1_Silent_p.Q228Q|CNBD2_ENST00000538900.1_Silent_p.Q228Q cyclic nucleotide binding domain containing 2 AGGAAGTTCAGAAGGATGCTC 0.448000 55 174 0 0 1 0 0 FEZ2 9637 broad.mit.edu 37 2 36810584 36810584 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:36810584G>A ENST00000379245.4 - 3 452 c.404C>T c.(403-405)tCa>tTa p.S135L FEZ2_ENST00000305852.7_5'UTR|FEZ2_ENST00000405912.3_Missense_Mutation_p.S135L NM_001042548.1 NP_001036013.1 Q9UHY8 FEZ2_HUMAN fasciculation and elongation protein zeta 2 (zygin II) 135 axon guidance|signal transduction protein binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 7 all_hematologic(82;0.21) TTCATCATCTGATGTATCAAA 0.403000 14 87 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145883539 145883539 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:145883539C>G ENST00000296702.5 + 18 2738 c.2700C>G c.(2698-2700)atC>atG p.I900M TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.I879M NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 900 FF 4. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAAGCTATCCAGAATTTCA 0.373000 17 53 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794397 140794397 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:140794397T>A ENST00000398610.2 + 1 1655 c.1655T>A c.(1654-1656)tTg>tAg p.L552* PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGTGTCGTTGAGCCTGTTT 0.602000 60 208 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86260571 86260571 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:86260571C>T ENST00000394518.2 + 21 5881 c.5786C>T c.(5785-5787)tCa>tTa p.S1929L AKAP13_ENST00000394510.2_Missense_Mutation_p.S174L|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.S1933L NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1929 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTGTCTCATTCAACAGACTCA 0.368000 10 49 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87645071 87645071 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:87645071C>T ENST00000320005.5 - 11 1276 c.1229G>A c.(1228-1230)gGc>gAc p.G410D NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 410 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TTCTGGAAGGCCACCAATGGT 0.328000 12 55 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24808843 24808843 + Missense_Mutation SNP A A C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:24808843A>C ENST00000395799.3 + 10 3723 c.3594A>C c.(3592-3594)gaA>gaC p.E1198D TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1198D NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1198 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AACAAGAAGAAGCGTGGATAA 0.363000 14 49 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6196425 6196425 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:6196425G>A ENST00000306177.5 + 16 3840 c.3682G>A c.(3682-3684)Gct>Act p.A1228T NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 1228 Lys-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GTGCTCTGACGCTGACCTCCA 0.453000 7 14 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27945306 27945306 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:27945306G>A ENST00000435845.2 - 1 297 c.278C>T c.(277-279)cCg>cTg p.P93L CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 134 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GCCCGGAACCGGAGGGAATGG 0.652000 10 48 0 0 1 0 0 FADD 8772 broad.mit.edu 37 11 70049625 70049625 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:70049625G>A ENST00000301838.4 + 1 357 c.60G>A c.(58-60)ctG>ctA p.L20L NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 20 DED. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GCAGCGAGCTGACCGAGCTCA 0.687000 4 10 0 0 1 0 0 YWHAH 7533 broad.mit.edu 37 22 32352124 32352124 + Splice_Site SNP A A C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr22:32352124A>C ENST00000397492.1 + 3 414 c.e3-1 YWHAH_ENST00000248975.5_Splice_Site|YWHAH_ENST00000471374.1_Splice_Site Q04917 1433F_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1) 4 GGGGTTTTGCAGGTGACAGAG 0.433000 16 68 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009292 5009292 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:5009292C>T ENST00000250076.3 - 5 1816 c.1162G>A c.(1162-1164)Gag>Aag p.E388K ZNF232_ENST00000575898.1_Missense_Mutation_p.E379K|ZNF232_ENST00000416429.2_3'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 361 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TCATTACACTCATAGGGCTTC 0.443000 16 52 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27081681 27081681 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:27081681C>A ENST00000261191.7 - 4 994 c.458G>T c.(457-459)cGt>cTt p.R153L ASUN_ENST00000539625.1_Missense_Mutation_p.R52L NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 153 cell division|mitosis|regulation of mitotic cell cycle protein binding ATTTCCAACACGTTCTGCATT 0.393000 20 94 1.2644e-06 1.38972e-06 1 1 0 GLTPD2 388323 broad.mit.edu 37 17 4692920 4692920 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:4692920G>A ENST00000331264.7 + 3 339 c.286G>A c.(286-288)Gaa>Aaa p.E96K NM_001014985.2 NP_001014985.2 glycolipid transfer protein domain containing 2 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 4 TCTGAAACCCGAAGGGGATGT 0.706000 4 51 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475572 140475572 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:140475572G>A ENST00000194155.4 + 1 1346 c.1198G>A c.(1198-1200)Gag>Aag p.E400K NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 400 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTTCTGTTGAGAACTTTTA 0.502000 14 78 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22881290 22881290 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr21:22881290G>A ENST00000400546.1 + 16 2445 c.2196G>A c.(2194-2196)ctG>ctA p.L732L NCAM2_ENST00000284894.7_Silent_p.L590L NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 732 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTGGGTTGCTGATGTGCATCA 0.473000 24 67 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13729507 13729507 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:13729507G>T ENST00000354817.3 + 4 570 c.426G>T c.(424-426)atG>atT p.M142I NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 142 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 CACAACAAATGAAGAATCTGG 0.393000 6 60 0.0293803 0.0297406 1 1 0 ROBO3 64221 broad.mit.edu 37 11 124735554 124735554 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:124735554C>A ENST00000397801.1 + 1 273 c.81C>A c.(79-81)agC>agA p.S27R NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 27 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CCAACTCCAGCGAGCTGCTCT 0.632000 OREG0021466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 17 7.48243e-07 8.27298e-07 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752285 62752285 + RNA SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:62752285G>T ENST00000331425.6 - 0 1150 NR_003952.1 AGTAAGTGCTGAGGAGCGCCT 0.438000 14 53 6.94344e-10 8.12438e-10 1 1 0 ACVR1B 91 broad.mit.edu 37 12 52385768 52385768 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:52385768G>C ENST00000257963.4 + 8 1460 c.1383G>C c.(1381-1383)caG>caC p.Q461H ACVR1B_ENST00000541224.1_Missense_Mutation_p.Q502H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.Q461H|ACVR1B_ENST00000542485.1_Missense_Mutation_p.Q409H|ACVR1B_ENST00000563121.1_3'UTR NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 461 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) ACTGGTGGCAGAGTTATGAGG 0.512000 23 93 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956608 93956608 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:93956608C>A ENST00000369303.4 - 15 2812 c.2628G>T c.(2626-2628)gaG>gaT p.E876D NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 876 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTTCAGCACGCTCCTTTTGCC 0.423000 15 66 3.27435e-08 3.72564e-08 1 1 0 FBXO38 81545 broad.mit.edu 37 5 147781565 147781565 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:147781565C>G ENST00000340253.5 + 4 451 c.283C>G c.(283-285)Cta>Gta p.L95V FBXO38_ENST00000394370.3_Missense_Mutation_p.L95V|FBXO38_ENST00000296701.6_Missense_Mutation_p.L95V|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.L95V Q6PIJ6 FBX38_HUMAN F-box protein 38 95 Interaction with KLF7 (By similarity). cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCAGTTTTCTAACACTATT 0.413000 25 92 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55993031 55993031 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:55993031C>G ENST00000391718.2 + 3 1024 c.459C>G c.(457-459)ttC>ttG p.F153L ZNF628_ENST00000598519.1_Missense_Mutation_p.F157L Q5EBL2 ZN628_HUMAN zinc finger protein 628 153 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CCAAGGCCTTCAAGAACTCGT 0.662000 5 19 0 0 1 0 0 CLRN1 7401 broad.mit.edu 37 3 150659411 150659411 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:150659411G>T ENST00000327047.1 - 2 681 c.391C>A c.(391-393)Ctg>Atg p.L131M CLRN1_ENST00000295911.2_Missense_Mutation_p.L55M|RP11-166N6.3_ENST00000569170.1_Silent_p.L40L|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.L131M|RP11-166N6.2_ENST00000469268.1_RNA NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 131 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGACCATGCAGAGTTTCAAAA 0.413000 10 49 0.00829132 0.00846216 1 1 0 CCSER1 401145 broad.mit.edu 37 4 91230708 91230708 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:91230708C>T ENST00000509176.1 + 2 1561 c.1273C>T c.(1273-1275)Cat>Tat p.H425Y CCSER1_ENST00000333691.8_Missense_Mutation_p.H425Y|CCSER1_ENST00000432775.2_Missense_Mutation_p.H425Y NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TTCTGGTGATCATCATATTTT 0.303000 12 80 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14748416 14748416 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:14748416G>T ENST00000380881.4 - 32 6597 c.5782C>A c.(5782-5784)Cgt>Agt p.R1928S FREM1_ENST00000422223.2_Missense_Mutation_p.R1927S|FREM1_ENST00000380880.3_Missense_Mutation_p.R1927S|FREM1_ENST00000380894.1_Missense_Mutation_p.R463S Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1927 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCATTCCCACGGGTCCTAAGC 0.433000 15 33 3.27435e-08 3.72564e-08 1 1 0 PPFIA1 8500 broad.mit.edu 37 11 70176314 70176314 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:70176314C>T ENST00000253925.7 + 8 1181 c.966C>T c.(964-966)atC>atT p.I322I AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I322I NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 322 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAGAGAGAATCACTACTCTTG 0.373000 21 83 0 0 1 0 0 IFNA17 3451 broad.mit.edu 37 9 21227646 21227646 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:21227646G>C ENST00000413767.2 - 1 575 c.527C>G c.(526-528)tCt>tGt p.S176C NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 176 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGTTGAAAAAGAGAGAGATCT 0.373000 27 378 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369554 56369554 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:56369554G>A ENST00000301295.6 + 3 1217 c.795G>A c.(793-795)ctG>ctA p.L265L NLRP4_ENST00000587891.1_Silent_p.L190L|NLRP4_ENST00000346986.5_Silent_p.L265L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 265 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCAGTTTGCTGAGGAAGAAGA 0.577000 10 92 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44682781 44682781 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:44682781C>T ENST00000281543.5 + 3 542 c.348C>T c.(346-348)atC>atT p.I116I GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 116 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 aaagaggaatcactgTTAAAG 0.318000 15 42 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50881426 50881426 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:50881426G>T ENST00000253727.5 + 5 437 c.202G>T c.(202-204)Gaa>Taa p.E68* NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000593926.1_Nonsense_Mutation_p.E68*|NR1H2_ENST00000598168.1_Nonsense_Mutation_p.E68*|NR1H2_ENST00000599105.1_Nonsense_Mutation_p.E68* NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 68 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TCCCGAAGAGGAACCAGAGCG 0.597000 37 176 1.06647e-15 1.33175e-15 1 1 0 PJA2 9867 broad.mit.edu 37 5 108714857 108714857 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:108714857G>C ENST00000361189.2 - 4 570 c.331C>G c.(331-333)Caa>Gaa p.Q111E PJA2_ENST00000361557.3_Missense_Mutation_p.Q111E NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 111 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TCAGTGGTTTGATTCAATGCT 0.413000 29 75 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127432 152127432 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:152127432C>A ENST00000316073.3 - 3 2207 c.2143G>T c.(2143-2145)Gat>Tat p.D715Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 715 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTGTCTATCCCAAGTTTGA 0.562000 58 347 8.99859e-20 1.14095e-19 1 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117375335 117375335 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:117375335T>C ENST00000160373.3 - 15 3767 c.3676A>G c.(3676-3678)Act>Gct p.T1226A NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1226 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTTTGGAAAGTGCAGGGGCTT 0.383000 6 84 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1220706 1220706 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:1220706G>T ENST00000326873.7 + 5 1897 c.724G>T c.(724-726)Ggg>Tgg p.G242W NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 242 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.G242W(1)|p.G242R(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGTCGGCTGGGGTCACCCT 0.706000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 9 35 0.000673444 0.00070178 1 1 0 FXR1 8087 broad.mit.edu 37 3 180630498 180630498 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:180630498C>T ENST00000357559.4 + 1 409 c.25C>T c.(25-27)Cgc>Tgc p.R9C FXR1_ENST00000491062.1_Missense_Mutation_p.R9C|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000491674.1_Missense_Mutation_p.R9C|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.R9C NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 9 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GGTGGAGGTTCGCGGCTCTAA 0.592000 OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 153 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90503533 90503533 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:90503533C>A ENST00000325643.5 + 4 4197 c.4131C>A c.(4129-4131)tgC>tgA p.C1377* NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTCTGGCCTGCAGCCCTAAAG 0.607000 4 46 0.150653 0.151264 1 1 0 HTRA4 203100 broad.mit.edu 37 8 38840066 38840066 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:38840066C>T ENST00000302495.4 + 7 1264 c.1164C>T c.(1162-1164)ctC>ctT p.L388L NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 388 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TGCTGTCCCTCACTGTGCCGT 0.423000 12 88 0 0 1 0 0 ETFB 2109 broad.mit.edu 37 19 51869556 51869556 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:51869556C>A ENST00000309244.4 - 1 116 c.25G>T c.(25-27)Gct>Tct p.A9S CTD-2616J11.11_ENST00000600067.1_Intron NM_001985.2 NP_001976.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 9 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) CTCTTGACAGCTACGAGCACG 0.692000 7 19 1.06961e-07 1.2023e-07 1 1 0 CCT6A 908 broad.mit.edu 37 7 56127301 56127301 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:56127301G>T ENST00000275603.4 + 9 1252 c.1033G>T c.(1033-1035)Gga>Tga p.G345* CCT6A_ENST00000335503.3_Nonsense_Mutation_p.G300*|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.G314* NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 345 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGACTGCTTGGGACATGCAGG 0.383000 15 58 6.31663e-08 7.15435e-08 1 1 0 ZNF451 26036 broad.mit.edu 37 6 57018737 57018737 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:57018737G>C ENST00000370706.4 + 13 3206 c.2962G>C c.(2962-2964)Gag>Cag p.E988Q ZNF451_ENST00000357489.3_Missense_Mutation_p.E940Q|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E988Q NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 988 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCTGGAGCTAGAGAATCAATT 0.423000 18 135 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369759 77369759 + Missense_Mutation SNP G G T rs146649352 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:77369759G>T ENST00000282849.5 - 12 2171 c.1753C>A c.(1753-1755)Ccc>Acc p.P585T NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 585 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATGGGCCGGGGCCCGAGCTCC 0.582000 63 132 6.25564e-26 7.97246e-26 1 1 0 CD8A 925 broad.mit.edu 37 2 87017610 87017610 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:87017610C>T ENST00000409511.2 - 5 1274 c.244G>A c.(244-246)Gag>Aag p.E82K CD8A_ENST00000456996.2_Missense_Mutation_p.E82K|CD8A_ENST00000283635.3_Missense_Mutation_p.E82K|CD8A_ENST00000409781.1_Missense_Mutation_p.E82K|CD8A_ENST00000352580.3_Missense_Mutation_p.E82K|CD8A_ENST00000538832.1_Missense_Mutation_p.E123K NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 82 Ig-like V-type. antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 TCCAGCCCCTCGGCCGCCTTG 0.657000 21 130 0 0 1 0 0 KDM4D 55693 broad.mit.edu 37 11 94730600 94730600 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:94730600C>T ENST00000335080.5 + 3 896 c.64C>T c.(64-66)Cat>Tat p.H22Y KDM4D_ENST00000536741.1_Missense_Mutation_p.H22Y NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 22 JmjN. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AATGATATTTCATCCAACCAA 0.353000 8 103 0 0 1 0 0 SPRYD4 283377 broad.mit.edu 37 12 56863238 56863238 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:56863238G>A ENST00000338146.5 + 2 576 c.501G>A c.(499-501)gtG>gtA p.V167V NM_207344.3 NP_997227.1 Q8WW59 SPRY4_HUMAN SPRY domain containing 4 167 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 TGGTGGATGTGAGCCAGGTCT 0.592000 15 51 0 0 1 0 0 CDK15 65061 broad.mit.edu 37 2 202672348 202672348 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:202672348G>A ENST00000450471.2 + 2 341 c.255G>A c.(253-255)ctG>ctA p.L85L CDK15_ENST00000260967.2_Silent_p.L34L|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000374598.4_Silent_p.L85L|CDK15_ENST00000410091.3_Silent_p.L34L|CDK15_ENST00000434439.1_Silent_p.L85L NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 85 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) AAGAGGATCTGAGGCAGGGTT 0.498000 10 89 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128393857 128393857 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:128393857C>T ENST00000389524.4 + 44 6059 c.6006C>T c.(6004-6006)atC>atT p.I2002I MYO7B_ENST00000409816.2_Silent_p.I2001I|MYO7B_ENST00000409090.1_Silent_p.I854I|MYO7B_ENST00000428314.1_Silent_p.I2001I Q6PIF6 MYO7B_HUMAN myosin VIIB 2001 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGAAGTGGATCTGCCGGTGGC 0.612000 6 67 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150711226 150711226 + Missense_Mutation SNP A A T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:150711226A>T ENST00000297494.3 + 27 3938 c.3581A>T c.(3580-3582)gAc>gTc p.D1194V ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.D988V|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000605938.1_3'UTR NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 1194 D -> E (in Ref. 6; CAA53950). anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGGGCGTTCGACCCTCCCGGC 0.677000 13 22 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38127854 38127854 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:38127854C>T ENST00000301659.4 + 5 754 c.636C>T c.(634-636)gtC>gtT p.V212V NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 212 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 AGCTGATGGTCAAAGGCAAAG 0.522000 6 30 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103834 53103834 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:53103834G>C ENST00000408890.4 + 1 486 c.470G>C c.(469-471)aGa>aCa p.R157T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 157 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGGACAGAGAgcccgcccc 0.726000 6 28 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52863629 52863629 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:52863629C>A ENST00000252250.6 - 7 1296 c.1249G>T c.(1249-1251)Gag>Tag p.E417* NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 417 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGTGCCATCTCCCCACGCTGC 0.597000 10 63 1.3612e-06 1.49391e-06 1 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596317 24596317 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:24596317G>A ENST00000535378.1 - 4 1200 c.558C>T c.(556-558)ttC>ttT p.F186F KIAA0319_ENST00000378214.3_Silent_p.F195F|KIAA0319_ENST00000430948.2_Silent_p.F150F|KIAA0319_ENST00000537886.1_Silent_p.F195F|KIAA0319_ENST00000543707.1_Silent_p.F195F NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 195 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CAGAGGAGTTGAAGGCCCCCT 0.627000 7 63 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13099553 13099553 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr18:13099553C>G ENST00000506447.1 + 37 6716 c.6636C>G c.(6634-6636)atC>atG p.I2212M CEP192_ENST00000325971.8_Missense_Mutation_p.I1616M|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.I1737M NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1807 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTGGTTTGATCTATATACACT 0.323000 24 114 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50587237 50587237 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:50587237G>C ENST00000378182.3 + 2 1899 c.1161G>C c.(1159-1161)aaG>aaC p.K387N TRIM13_ENST00000420995.2_Missense_Mutation_p.K387N|TRIM13_ENST00000356017.4_Missense_Mutation_p.K390N|TRIM13_ENST00000457662.2_Missense_Mutation_p.K387N|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.K390N NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 387 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.K387N(1) large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) AAAGATTCAAGAATTTTACTT 0.318000 35 95 0 0 1 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27806062 27806062 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:27806062G>A ENST00000330180.2 - 1 55 c.56C>T c.(55-57)tCt>tTt p.S19F NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 19 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 CGCCCTTGAAGAACGGGTCTT 0.602000 14 57 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71317674 71317674 + Nonsense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:71317674G>C ENST00000338099.5 - 3 2486 c.2150C>G c.(2149-2151)tCa>tGa p.S717* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.S717* Q8IYT2 FTSJ1_HUMAN 717 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGCTGGGGTGAGTCAGAGTT 0.453000 15 44 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18775902 18775902 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:18775902G>C ENST00000268835.2 + 5 462 c.179G>C c.(178-180)aGa>aCa p.R60T PRPSAP2_ENST00000419071.2_Intron|PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.R60T NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 60 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 CCAGAAACAAGAGTACAAATT 0.348000 50 208 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223488993 223488993 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:223488993G>A ENST00000281828.6 - 12 1431 c.1168C>T c.(1168-1170)Caa>Taa p.Q390* FARSB_ENST00000536361.1_Nonsense_Mutation_p.Q291* NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 390 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) AATCTTACTTGATTAGCTATG 0.363000 26 141 0 0 1 0 0 FAM174A 345757 broad.mit.edu 37 5 99871249 99871249 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:99871249G>T ENST00000312637.4 + 1 241 c.15G>T c.(13-15)caG>caT p.Q5H NM_198507.1 NP_940909.1 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 5 integral to membrane breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 AGGCCTCGCAGTGCTGCTGCT 0.672000 31 77 2.61193e-14 3.23444e-14 1 1 0 CTSC 1075 broad.mit.edu 37 11 88027416 88027416 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:88027416T>C ENST00000227266.5 - 7 1264 c.1150A>G c.(1150-1152)Aaa>Gaa p.K384E NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 384 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATCCCCTTTTTGTAGTGGAGG 0.483000 26 83 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17599678 17599678 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:17599678C>T ENST00000252595.7 + 5 913 c.816C>T c.(814-816)ttC>ttT p.F272F SLC27A1_ENST00000442725.1_Silent_p.F272F|SLC27A1_ENST00000598424.1_Silent_p.F93F NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 272 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGGCAGCCTTCGGCCACCACG 0.657000 7 23 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93797562 93797562 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:93797562C>G ENST00000315765.9 + 4 702 c.694C>G c.(694-696)Ctt>Gtt p.L232V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 232 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AATGTTTACTCTTGTGGATGA 0.393000 9 33 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740623 32740623 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:32740623G>T ENST00000333070.4 + 4 317 c.217G>T c.(217-219)Gag>Tag p.E73* LCK_ENST00000373564.3_Nonsense_Mutation_p.E131*|LCK_ENST00000336890.5_Nonsense_Mutation_p.E73* NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 73 SH3. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GCACAGCTATGAGCCCTCTCA 0.597000 T TRB@ T-ALL 20 94 7.87624e-14 9.65685e-14 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112616995 112616995 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:112616995C>T ENST00000550722.1 - 63 11151 c.10756G>A c.(10756-10758)Gag>Aag p.E3586K HECTD4_ENST00000430131.2_Missense_Mutation_p.E3310K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3560K NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGCTGATCCTCCAGCACCTTT 0.607000 8 18 0 0 1 0 0 TCEB2 6923 broad.mit.edu 37 16 2821499 2821499 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:2821499G>A ENST00000262306.7 - 5 497 c.460C>T c.(460-462)Cag>Tag p.Q154* TCEB2_ENST00000409906.4_3'UTR|TCEB2_ENST00000409477.1_3'UTR NM_207013.2 NP_996896.1 Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) 0 positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|prostate(1) 3 GGGTGGACCTGTGTGGGTCCG 0.547000 24 101 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94050520 94050520 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:94050520G>A ENST00000515393.1 - 20 2681 c.2682C>T c.(2680-2682)atC>atT p.I894I MCTP1_ENST00000312216.8_Silent_p.I673I|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Silent_p.I410I|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Silent_p.I587I NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 894 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTTCATCTAGGATGTTCTGGA 0.398000 20 187 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216138672 216138672 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:216138672G>C ENST00000366943.2 - 37 7493 c.7107C>G c.(7105-7107)ttC>ttG p.F2369L USH2A_ENST00000307340.3_Missense_Mutation_p.F2369L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2369 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.F2369L(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTCTACATAGAATATCCCAG 0.358000 HNSCC(13;0.011) 12 210 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117884901 117884901 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:117884901C>G ENST00000439649.3 - 5 953 c.586G>C c.(586-588)Gac>Cac p.D196H GFRA1_ENST00000544592.1_Missense_Mutation_p.D80H|GFRA1_ENST00000369236.1_Missense_Mutation_p.D196H|GFRA1_ENST00000355422.6_Missense_Mutation_p.D201H NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 201 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GGGACCTTGTCAAAGAACTGC 0.617000 7 40 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3721925 3721925 + Silent SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:3721925G>C ENST00000324932.7 - 24 4077 c.3657C>G c.(3655-3657)ctC>ctG p.L1219L NUP98_ENST00000359171.4_Silent_p.L1219L|NUP98_ENST00000355260.3_Silent_p.L1219L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1236 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TGGGGACAATGAGAGGACACA 0.423000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 67 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439700 52439700 + Missense_Mutation SNP A A G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr13:52439700A>G ENST00000242819.4 + 2 482 c.186A>G c.(184-186)atA>atG p.I62M NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 62 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GTGAAAAAATAGAGGACTTCA 0.488000 23 107 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154859918 154859918 + Splice_Site SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:154859918T>A ENST00000460393.1 + 11 1214 c.e11+2 MME_ENST00000493237.1_Splice_Site|MME_ENST00000360490.2_Splice_Site|MME_ENST00000462745.1_Splice_Site|MME_ENST00000492661.1_Splice_Site NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTCTGCCAGGTAGGTATGTCA 0.388000 51 265 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32341159 32341159 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:32341159C>T ENST00000375200.1 + 5 1036 c.671C>T c.(670-672)gCt>gTt p.A224V ZNF341_ENST00000342427.2_Missense_Mutation_p.A224V Q9BYN7 ZN341_HUMAN zinc finger protein 341 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 TACAGTGCTGCTGCGCCCCTG 0.687000 3 20 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7801920 7801920 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:7801920C>T ENST00000379562.3 - 12 1099 c.1052G>A c.(1051-1053)aGa>aAa p.R351K KIN_ENST00000543003.1_Missense_Mutation_p.R245K|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.R351K O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 351 C-terminal subdomain B. DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 TTCATTTCCTCTGTAGCCTCC 0.308000 7 76 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33526632 33526632 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:33526632G>T ENST00000404816.2 + 22 3755 c.3402G>T c.(3400-3402)caG>caT p.Q1134H LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q808H|LTBP1_ENST00000272273.5_Missense_Mutation_p.Q74H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q755H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q755H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q809H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1135H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q808H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1134 EGF-like 10; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTCATGGGCAGTGCAGGAACA 0.458000 10 86 1.76689e-08 2.0322e-08 1 1 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652248 45652248 + RNA SNP T T A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:45652248T>A ENST00000427229.2 + 0 1762 AAGGAACACCTGATGAGGCTG 0.488000 9 20 0 0 1 0 0 NIPA2 81614 broad.mit.edu 37 15 23012297 23012297 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:23012297G>A ENST00000337451.3 - 7 1042 c.430C>T c.(430-432)Cac>Tac p.H144Y NIPA2_ENST00000359727.4_Missense_Mutation_p.H125Y|NIPA2_ENST00000398014.2_Missense_Mutation_p.H144Y|NIPA2_ENST00000539711.2_Missense_Mutation_p.H125Y|NIPA2_ENST00000398013.3_Missense_Mutation_p.H144Y NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 144 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CCTAGCTTGTGAGACATTTCA 0.328000 5 96 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3766766 3766766 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:3766766C>A ENST00000379751.4 - 1 571 c.365G>T c.(364-366)tGg>tTg p.W122L NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 122 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 GCGGTCCAGCCAGCCGTTGGA 0.756000 8 69 0.00307968 0.00317806 1 1 0 CXCL3 2921 broad.mit.edu 37 4 74902980 74902980 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:74902980C>T ENST00000296026.4 - 4 400 c.323G>A c.(322-324)tGa>tAa p.*108* CXCL3_ENST00000511669.1_5'UTR NM_002090.2 NP_002081.2 P19876 CXCL3_HUMAN chemokine (C-X-C motif) ligand 3 0 immune response|inflammatory response|neutrophil chemotaxis extracellular space chemokine activity central_nervous_system(1)|endometrium(1) 2 Breast(15;0.00612) all cancers(17;0.00273)|Lung(101;0.196) TCTCTCCTGTCAGTTGGTGCT 0.498000 18 61 0 0 1 0 0 HIF1AN 55662 broad.mit.edu 37 10 102300526 102300526 + Silent SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:102300526C>A ENST00000299163.5 + 3 664 c.564C>A c.(562-564)ctC>ctA p.L188L NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor 188 Interaction with HIF1A.|Interaction with VHL.|JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) ACCTGCTGCTCATTGGCATGG 0.448000 14 48 4.3838e-07 4.86144e-07 1 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140812230 140812230 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:140812230G>T ENST00000252085.3 + 1 2046 c.1904G>T c.(1903-1905)aGa>aTa p.R635I PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTGGACAGAGACGCGCTC 0.697000 26 100 9.39395e-14 1.14609e-13 1 1 0 RBM43 375287 broad.mit.edu 37 2 152108144 152108144 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:152108144G>A ENST00000331426.5 - 4 501 c.350C>T c.(349-351)tCt>tTt p.S117F NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 117 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TCCAAAAACAGAAAGATCAAG 0.353000 16 89 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48520719 48520719 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr7:48520719G>A ENST00000435803.1 + 46 13086 c.13062G>A c.(13060-13062)gaG>gaA p.E4354E ABCA13_ENST00000544596.1_Silent_p.E84E NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4354 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCAATATGGAGGAGTACTTGC 0.413000 4 11 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16895717 16895717 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:16895717G>A ENST00000430580.2 - 23 3352 c.2465C>T c.(2464-2466)tCt>tTt p.S822F NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 822 NBPF 4.|Poly-Glu. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTCCTCTTCAGACTCCTGCAG 0.488000 11 301 0 0 1 0 0 TRMT10C 54931 broad.mit.edu 37 3 101284217 101284217 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:101284217G>C ENST00000309922.6 + 2 746 c.592G>C c.(592-594)Gcc>Ccc p.A198P NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) GGGTGCCCAGGCCATGCAGTT 0.398000 22 78 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513317 70513317 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:70513317C>A ENST00000503640.1 - 1 101 c.46G>T c.(46-48)Gga>Tga p.G16* UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.G16*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.G16*|UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.G16* NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 16 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AGAGTGGTTCCTATGAGACTT 0.378000 9 30 5.4927e-09 6.36674e-09 1 1 0 NELL1 4745 broad.mit.edu 37 11 20959343 20959343 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:20959343T>C ENST00000298925.5 + 11 1246 c.1093T>C c.(1093-1095)Tat>Cat p.Y365H NELL1_ENST00000532434.1_Missense_Mutation_p.Y337H|NELL1_ENST00000325319.5_Missense_Mutation_p.Y280H|NELL1_ENST00000357134.5_Missense_Mutation_p.Y337H Q92832 NELL1_HUMAN NEL-like 1 (chicken) 337 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AAAATGTATCTATGGAGGAAA 0.418000 21 61 0 0 1 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10145979 10145979 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:10145979G>A ENST00000450660.2 - 2 696 c.480C>T c.(478-480)ctC>ctT p.L160L FANCD2OS_ENST00000524279.1_Silent_p.L160L NM_001164839.1 NP_001158311.1 FANCD2 opposite strand CATACAGCAAGAGGATAGAGC 0.478000 10 67 0 0 1 0 0 FAM26F 441168 broad.mit.edu 37 6 116784478 116784478 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:116784478C>T ENST00000368605.1 + 3 653 c.558C>T c.(556-558)atC>atT p.I186I FAM26F_ENST00000368606.3_Silent_p.I14I|RP1-93H18.6_ENST00000476099.1_RNA NM_001010919.1 NP_001010919.1 Q5R3K3 FA26F_HUMAN family with sequence similarity 26, member F 186 integral to membrane large_intestine(2)|lung(1) 3 GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231) CAGTTGTTATCATCATTCTTC 0.353000 30 96 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17210880 17210880 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr10:17210880C>A ENST00000377799.3 - 3 258 c.211G>T c.(211-213)Gat>Tat p.D71Y TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.D71Y|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.D71Y|TRDMT1_ENST00000452380.2_5'UTR NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 71 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding p.D71N(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 AAAATCATATCAAAAGATAAT 0.383000 7 25 0.000274275 0.000288649 1 1 0 MAST2 23139 broad.mit.edu 37 1 46295119 46295119 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:46295119C>A ENST00000361297.2 + 3 617 c.334C>A c.(334-336)Ctg>Atg p.L112M MAST2_ENST00000372009.2_Missense_Mutation_p.L112M NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 112 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) AGGTAAGCAGCTGCTCCCTTT 0.388000 11 77 1.61879e-10 1.9031e-10 1 1 0 ACACB 32 broad.mit.edu 37 12 109679001 109679001 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:109679001C>T ENST00000338432.7 + 36 5056 c.4937C>T c.(4936-4938)cCc>cTc p.P1646L ACACB_ENST00000377854.5_Missense_Mutation_p.P1576L|ACACB_ENST00000377848.3_Missense_Mutation_p.P1646L|ACACB_ENST00000543201.1_Missense_Mutation_p.P312L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1646 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGTGCCGTTCCCATCCGCCTG 0.562000 60 190 0 0 1 0 0 STK3 6788 broad.mit.edu 37 8 99719466 99719466 + Missense_Mutation SNP T T C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr8:99719466T>C ENST00000523601.1 - 7 908 c.509A>G c.(508-510)aAa>aGa p.K170R STK3_ENST00000419617.2_Missense_Mutation_p.K142R NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 142 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) TCTGTGTATTTTTCTCATAAA 0.308000 7 14 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95566440 95566440 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr12:95566440G>A ENST00000343958.4 - 3 2745 c.2522C>T c.(2521-2523)tCt>tTt p.S841F FGD6_ENST00000549499.1_Missense_Mutation_p.S841F|FGD6_ENST00000546711.1_Missense_Mutation_p.S841F NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 841 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 ATCTTCATCAGAACTGTTGAT 0.453000 38 128 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44423752 44423752 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:44423752C>T ENST00000269973.5 - 8 1205 c.115G>A c.(115-117)Gag>Aag p.E39K RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E39K NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 39 KRAB. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 CTGAAGTTCTCCAGCATCACA 0.537000 10 162 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74819794 74819794 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:74819794G>C ENST00000370895.1 + 13 1496 c.1461G>C c.(1459-1461)ttG>ttC p.L487F FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L487F|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L386F|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.L487F|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L487F Q59H18 TNI3K_HUMAN 386 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding AGACATGTTTGATGTGGGCTT 0.378000 24 122 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28167757 28167757 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr16:28167757G>A ENST00000304658.5 - 7 1235 c.735C>T c.(733-735)atC>atT p.I245I XPO6_ENST00000565698.1_Silent_p.I231I NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 245 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CCAGGGAACAGATATACTCAC 0.493000 24 77 0 0 1 0 0 KIAA1191 57179 broad.mit.edu 37 5 175775307 175775307 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:175775307G>A ENST00000298569.4 - 7 1045 c.512C>T c.(511-513)tCa>tTa p.S171L KIAA1191_ENST00000393725.2_Missense_Mutation_p.S152L|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000533553.1_Silent_p.I27I|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S171L NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 171 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) GGACTGGGCTGATGCAGGCTG 0.498000 15 59 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2685801 2685801 + Silent SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:2685801G>A ENST00000274643.7 - 5 693 c.351C>T c.(349-351)ttC>ttT p.F117F MYLK4_ENST00000268446.5_Silent_p.F117F NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 117 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) GAACCTGGCCGAAACGCCCTC 0.582000 6 125 0 0 1 0 0 C6orf1 221491 broad.mit.edu 37 6 34214850 34214850 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:34214850C>G ENST00000476320.1 - 4 778 c.96G>C c.(94-96)agG>agC p.R32S C6orf1_ENST00000481533.1_Missense_Mutation_p.R32S|C6orf1_ENST00000335352.3_Missense_Mutation_p.R12S|C6orf1_ENST00000394990.4_Missense_Mutation_p.R32S|C6orf1_ENST00000413013.2_Missense_Mutation_p.R12S|C6orf1_ENST00000468145.1_Missense_Mutation_p.R32S NM_001008703.1 NP_001008703.1 Q86T20 CF001_HUMAN chromosome 6 open reading frame 1 32 extracellular region endometrium(1)|prostate(1) 2 Ovarian(999;0.0228) BRCA - Breast invasive adenocarcinoma(397;1.11e-10) GAGAGCAGCTCCTGCTCAGCC 0.632000 OREG0017364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 182 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92568196 92568196 + Missense_Mutation SNP C C A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr11:92568196C>A ENST00000298047.6 + 14 10049 c.10032C>A c.(10030-10032)gaC>gaA p.D3344E FAT3_ENST00000409404.2_Missense_Mutation_p.D3344E|FAT3_ENST00000525166.1_Missense_Mutation_p.D3194E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3344 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCAGCCAAGACGTCTACAGTG 0.527000 TCGA Ovarian(4;0.039) 6 30 0.0293803 0.0297406 1 1 0 SULF2 55959 broad.mit.edu 37 20 46313262 46313262 + Silent SNP G G T rs114802841 by1000genomes TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:46313262G>T ENST00000359930.4 - 6 1652 c.801C>A c.(799-801)ccC>ccA p.P267P SULF2_ENST00000484875.1_Silent_p.P267P|SULF2_ENST00000467815.1_Silent_p.P267P|SULF2_ENST00000361612.4_Silent_p.P267P|CTD-2653D5.1_ENST00000526566.2_RNA NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 267 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 TGGGCTTCATGGGCCCCGTGT 0.602000 9 35 3.09899e-07 3.44693e-07 1 1 0 CTSS 1520 broad.mit.edu 37 1 150737202 150737202 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:150737202G>A ENST00000368985.3 - 2 298 c.38C>T c.(37-39)tCt>tTt p.S13F CTSS_ENST00000448301.2_Missense_Mutation_p.S13F NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 13 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TGCCACTGCAGAGGAGCACAC 0.443000 43 188 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142188994 142188994 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:142188994G>A ENST00000350721.4 - 37 6374 c.6253C>T c.(6253-6255)Cag>Tag p.Q2085* RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Nonsense_Mutation_p.Q2021* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2085 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGCATTGACTGATATATGAAC 0.299000 Other conserved DNA damage response genes 8 25 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640912 156640912 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:156640912C>T ENST00000368223.3 - 4 3200 c.3068G>A c.(3067-3069)aGa>aAa p.R1023K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1023 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AACCAGGCCTCTCTGCTCTTT 0.657000 20 390 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55168206 55168206 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:55168206C>T ENST00000396834.1 + 6 820 c.324C>T c.(322-324)acC>acT p.T108T IL31RA_ENST00000447346.2_Silent_p.T127T|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000396836.2_Silent_p.T127T|IL31RA_ENST00000359040.5_Silent_p.T127T|IL31RA_ENST00000354961.4_Silent_p.T108T NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 95 Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ATAATTATACCATTGAGGTGG 0.333000 19 84 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 159023471 159023471 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:159023471G>A ENST00000295809.7 + 11 2489 c.2234G>A c.(2233-2235)gGg>gAg p.G745E IFI16_ENST00000340979.6_Missense_Mutation_p.G633E|IFI16_ENST00000359709.3_Missense_Mutation_p.G689E|IFI16_ENST00000368132.3_Missense_Mutation_p.G689E|IFI16_ENST00000448393.2_Missense_Mutation_p.G633E|IFI16_ENST00000430894.2_Missense_Mutation_p.G693E|IFI16_ENST00000368131.4_Missense_Mutation_p.G689E Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 745 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CCGAAAAGTGGGAATACCGGG 0.423000 30 189 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3766566 3766566 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr20:3766566G>A ENST00000379751.4 - 1 771 c.565C>T c.(565-567)Cag>Tag p.Q189* NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 189 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 AACACGTCCTGCGAGGCGTAG 0.726000 12 50 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520424 23520424 + Frame_Shift_Del DEL C C - rs41268111 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:23520424delC ENST00000374619.1 - 1 798 c.289delG c.(289-291)ccfs p.A97fs HTR1D_ENST00000314113.3_Frame_Shift_Del_p.A97fs NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 97 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) ATGGTATAGGCGATGCTGATG 0.547 44 181 --- --- --- --- AMY1A 276 broad.mit.edu 37 1 104203093 104203094 + Frame_Shift_Ins INS - - TT TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:104203093_104203094insTT ENST00000370083.4 + 7 1210_1211 c.990_991insTT c.(988-993)ttgggafs p.LG330fs NM_001008221.1|NM_004038.3 NP_001008222.1|NP_004029.2 amylase, alpha 1A (salivary) all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) TACTTACCTTCTGGGATGCTAG 0.376 30 812 --- --- --- --- RGS2 5997 broad.mit.edu 37 1 192778220 192778220 + Frame_Shift_Del DEL T T - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:192778220delT ENST00000235382.5 + 1 50 c.19delT c.(19-21)tgfs p.L7fs RGS2_ENST00000483295.1_3'UTR NM_002923.3 NP_002914.1 P41220 RGS2_HUMAN regulator of G-protein signaling 2, 24kDa 7 cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity large_intestine(3)|lung(1)|urinary_tract(1) 5 TGCTATGTTCTTGGCTGTTCA 0.587 21 121 --- --- --- --- OR11L1 391189 broad.mit.edu 37 1 248004562 248004563 + Frame_Shift_Ins INS - - A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr1:248004562_248004563insA ENST00000355784.2 - 1 691_692 c.636_637insT c.(634-639)tttgacfs p.D213fs NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L213L(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCAGTGTCAGAAAAAAACAAA 0.515 25 135 --- --- --- --- NR4A2 4929 broad.mit.edu 37 2 157186105 157186105 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr2:157186105delC ENST00000339562.4 - 3 956 c.594delG c.(592-594)ctfs p.L198fs NR4A2_ENST00000429376.1_Frame_Shift_Del_p.L135fs|NR4A2_ENST00000539077.1_Frame_Shift_Del_p.L209fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.L198fs|NR4A2_ENST00000426264.1_Frame_Shift_Del_p.L135fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.L198fs NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 198 Pro-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TGGGGACGTGCAGGGGCCCGT 0.662 18 102 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 5 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 7 157 --- --- --- --- PCDHGB2 56103 broad.mit.edu 37 5 140741900 140741900 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr5:140741900delC ENST00000522605.1 + 1 2198 c.2198delC c.(2197-2199)tcfs p.S733fs PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCTCAGCTCCAAGCCTGGA 0.532 39 154 --- --- --- --- FAM229B 619208 broad.mit.edu 37 6 112420561 112420561 + Frame_Shift_Del DEL T T - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr6:112420561delT ENST00000368656.2 + 3 372 c.75delT c.(73-75)ccfs p.P25fs FAM229B_ENST00000604268.1_Frame_Shift_Del_p.P25fs NM_001033564.1 NP_001028736.1 family with sequence similarity 229, member B AGCTGGAACCTGGGCTGAGCT 0.468 25 44 --- --- --- --- CACNA1B 774 broad.mit.edu 37 9 140995585 140995586 + Frame_Shift_Ins INS - - T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr9:140995585_140995586insT ENST00000371365.2 + 4 389_390 c.344_345insT c.(343-345)attfs p.I115fs CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000277551.2_Intron Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1751 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GATATGTACAGTTTGTTGCGTT 0.520 11 26 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51347246 51347246 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr14:51347246delG ENST00000337334.2 + 4 427 c.412delG c.(412-414)ggfs p.G138fs ABHD12B_ENST00000353130.1_Frame_Shift_Del_p.G61fs|ABHD12B_ENST00000395752.1_Frame_Shift_Del_p.G31fs|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 138 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CCTTCGTGATGGGAACCCAAT 0.498 71 88 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25485171 25485172 + RNA INS - - G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:25485171_25485172insG ENST00000453082.2 + 0 1979 NR_003343.1 GGCATCTGGAAGGGGGCCCAGC 0.604 21 65 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 6 --- --- --- --- AC015922.5 0 broad.mit.edu 37 17 15737072 15737073 + RNA INS - - TTTA rs71838018 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:15737072_15737073insTTTA ENST00000584636.1 + 0 316 CTCTATCCTGCTTTATCTTGGA 0.460 2 4 --- --- --- --- LOC100131347 100131347 broad.mit.edu 37 17 37213525 37213526 + RNA INS - - TTTTG rs59291335 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr17:37213525_37213526insTTTTG ENST00000583447.1 + 0 141 NR_036551.1 CTGAAGGACTCttttttttttt 0.550 3 3 --- --- --- --- TUBB4A 10382 broad.mit.edu 37 19 6495311 6495311 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:6495311delC ENST00000264071.2 - 4 1570 c.1199delG c.(1198-1200)gcfs p.G400fs TUBB4A_ENST00000540257.1_Frame_Shift_Del_p.G400fs P04350 TBB4_HUMAN tubulin, beta 4A class IVa 400 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CATGCCCTCGCCCGTGTACCA 0.607 67 222 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262849 20262850 + RNA INS - - T rs142097873 TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx D9B15255-519F-4401-9CB5-B5DD3982C8E3 16880AEE-819E-478A-8826-0812B8802E08 g.chr19:20262849_20262850insT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTTCttttttcttttttttttt 0.470 3 4 --- --- --- ---