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 DNAH8 1769 broad.mit.edu 37 6 38879298 38879298 + Silent SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr6:38879298T>C ENST00000359357.3 + 64 9398 c.9144T>C c.(9142-9144)ggT>ggC p.G3048G DNAH8_ENST00000449981.2_Silent_p.G3265G|DNAH8_ENST00000441566.1_Silent_p.G3012G dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTATAAATGGTTATAAAAACA 0.363000 26 25 0 0 1 0 0 SPPL2B 56928 broad.mit.edu 37 19 2341061 2341061 + RNA SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:2341061G>A ENST00000452401.2 + 0 1033 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity 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) GTCCTCGGGTGCACCAGGGCT 0.716000 4 12 0 0 1 0 0 PRRC1 133619 broad.mit.edu 37 5 126860242 126860242 + Silent SNP T T G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr5:126860242T>G ENST00000442138.2 + 3 269 c.123T>G c.(121-123)tcT>tcG p.S41S PRRC1_ENST00000512635.2_Silent_p.S41S|PRRC1_ENST00000296666.8_Silent_p.S41S Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 41 Pro-rich. Golgi apparatus endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GTTCTTTTTCTTCTCCAAATG 0.423000 45 104 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525788 176525788 + Missense_Mutation SNP C C G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:176525788C>G ENST00000367662.3 + 2 1494 c.330C>G c.(328-330)gaC>gaG p.D110E PAPPA2_ENST00000367661.3_Missense_Mutation_p.D110E NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 110 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTCCCCCAGACCTGACTGAAA 0.557000 21 283 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193081035 193081035 + Missense_Mutation SNP G G T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr3:193081035G>T ENST00000342358.4 - 3 491 c.374C>A c.(373-375)cCa>cAa p.P125Q NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 125 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTTTAATTCTGGCTTTATTAA 0.383000 9 47 0.0692343 0.0708827 1 1 0 ZNF780A 284323 broad.mit.edu 37 19 40581529 40581529 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:40581529C>T ENST00000450241.2 - 6 1029 c.718G>A c.(718-720)Gta>Ata p.V240I AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I O75290 Z780A_HUMAN zinc finger protein 780A 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTACACCAGAATGA 0.388000 5 167 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30522855 30522855 + Missense_Mutation SNP C C G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr6:30522855C>G ENST00000376621.3 - 3 1323 c.353G>C c.(352-354)cGg>cCg p.R118P NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 118 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity p.R118L(1)|p.R118Q(1) cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 ATACACCTCCCGGATGTCCAG 0.562000 28 105 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462323 5462323 + Missense_Mutation SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr11:5462323T>C ENST00000380211.1 - 1 421 c.422A>G c.(421-423)aAc>aGc p.N141S AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATATACGGTTGTGAGTGAG 0.478000 10 23 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162762536 162762536 + Silent SNP A A G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:162762536A>G ENST00000367917.3 + 2 191 c.123A>G c.(121-123)gcA>gcG p.A41A HSD17B7_ENST00000367915.1_Silent_p.A41A|HSD17B7_ENST00000254521.3_Silent_p.A41A|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_Silent_p.A41A P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 41 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TGAGCAAGGCAGAAGCTGTCT 0.592000 20 44 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230961 21230961 + Missense_Mutation SNP C C A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr2:21230961C>A ENST00000233242.1 - 26 8906 c.8779G>T c.(8779-8781)Ggg>Tgg p.G2927W NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2927 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCCATGACCCTTTTCCAGAA 0.488000 43 80 6.21074e-16 6.67655e-16 1 1 0 F5 2153 broad.mit.edu 37 1 169510463 169510463 + Missense_Mutation SNP A A G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:169510463A>G ENST00000367796.3 - 13 4081 c.3880T>C c.(3880-3882)Ttc>Ctc p.F1294L F5_ENST00000367797.3_Missense_Mutation_p.F1289L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1289 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGCTGAAGTCTAGAGAA 0.517000 5 438 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196621001 196621001 + Silent SNP T T G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr2:196621001T>G ENST00000312428.6 - 62 11542 c.11442A>C c.(11440-11442)gcA>gcC p.A3814A DNAH7_ENST00000409063.1_Silent_p.A297A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3814 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAGACATGACTGCAAGCCCCT 0.358000 12 43 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91367019 91367019 + Missense_Mutation SNP A A G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr14:91367019A>G ENST00000261991.3 - 10 1354 c.1181T>C c.(1180-1182)cTt>cCt p.L394P RPS6KA5_ENST00000536315.2_Missense_Mutation_p.L315P|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.L394P NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 394 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GTGAAACTGAAGAGGGTCTAT 0.388000 6 14 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532282 40532282 + Missense_Mutation SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr8:40532282G>A ENST00000297737.6 - 5 664 c.518C>T c.(517-519)gCg>gTg p.A173V ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 173 nucleus DNA binding|zinc ion binding p.A173V(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) AACTCTTGCCGCATTCTTTTT 0.478000 79 86 0 0 1 0 0 CD14 929 broad.mit.edu 37 5 140011717 140011717 + Silent SNP C C T rs150900616 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr5:140011717C>T ENST00000302014.6 - 2 1481 c.852G>A c.(850-852)tcG>tcA p.S284S CD14_ENST00000401743.2_Silent_p.S284S NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 284 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAGCGAACGACAGATTGA 0.617000 10 49 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10692194 10692194 + Missense_Mutation SNP C C A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr8:10692194C>A ENST00000554914.1 - 2 201 c.111G>T c.(109-111)atG>atT p.M37I PINX1_ENST00000520018.2_5'UTR|PINX1_ENST00000519088.1_Missense_Mutation_p.M37I|PINX1_ENST00000426190.2_Missense_Mutation_p.M35I|SOX7_ENST00000553390.1_Missense_Mutation_p.M37I|PINX1_ENST00000314787.3_Missense_Mutation_p.M37I Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 0 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) TAGACCACCCCATCTTCTCTA 0.453000 5 26 1 1 1 1 0 IFT140 9742 broad.mit.edu 37 16 1568356 1568356 + Missense_Mutation SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr16:1568356G>A ENST00000426508.2 - 30 4406 c.4043C>T c.(4042-4044)aCg>aTg p.T1348M IFT140_ENST00000361339.5_Missense_Mutation_p.T542M NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1348 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CTCTGTGTACGTCCTGCCGAG 0.597000 6 25 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719816 140719816 + Silent SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr5:140719816T>C ENST00000394576.2 + 1 1278 c.1278T>C c.(1276-1278)gaT>gaC p.D426D PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCTAAAGATGGAGGGAACC 0.502000 11 47 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773913 140773913 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr5:140773913C>T ENST00000398604.2 + 1 1533 c.1533C>T c.(1531-1533)acC>acT p.T511T PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_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) ACTCTGACACCGGTGTCCTGT 0.602000 39 28 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084270 17084270 + RNA SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:17084270C>T ENST00000455405.2 - 0 538 CCCCAGCCTGCAATCTCACAC 0.582000 16 275 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126301339 126301339 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr11:126301339C>T ENST00000525144.2 - 14 1920 c.1671G>A c.(1669-1671)gcG>gcA p.A557A KIRREL3_ENST00000529097.2_Silent_p.A545A|KIRREL3_ENST00000525704.2_Silent_p.A557A|KIRREL3_ENST00000416561.2_Silent_p.A24A NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 557 hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CACAGCAGAACGCCACGATGG 0.617000 4 12 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34182916 34182916 + Missense_Mutation SNP G G T rs142055675 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr7:34182916G>T ENST00000297161.2 + 15 2194 c.1820G>T c.(1819-1821)cGg>cTg p.R607L BMPER_ENST00000426693.1_Missense_Mutation_p.R607L NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 607 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GCATATACCCGGGCCTGCCAG 0.463000 15 46 2.32078e-09 2.46404e-09 1 1 0 CDH8 1006 broad.mit.edu 37 16 61761040 61761040 + Silent SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr16:61761040G>A ENST00000577390.1 - 9 2448 c.1494C>T c.(1492-1494)tcC>tcT p.S498S CDH8_ENST00000584337.1_Silent_p.S498S|CDH8_ENST00000577730.1_Silent_p.S498S|CDH8_ENST00000299345.6_Silent_p.S498S NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 498 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCTCATATTCGGATGCGAATT 0.388000 15 51 0 0 1 0 0 RHOQ 23433 broad.mit.edu 37 2 46770278 46770278 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr2:46770278C>T ENST00000238738.4 + 1 412 c.93C>T c.(91-93)aaC>aaT p.N31N RHOQ_ENST00000465198.1_Intron NM_012249.3 NP_036381.2 P17081 RHOQ_HUMAN ras homolog family member Q 31 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GCTATGCCAACGACGCCTTCC 0.662000 12 94 0 0 1 0 0 DLL3 10683 broad.mit.edu 37 19 39994710 39994710 + Splice_Site SNP G G C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:39994710G>C ENST00000205143.4 + 5 659 c.e5-1 DLL3_ENST00000356433.5_Splice_Site NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTCCCCCATAGTGGTGTGCCG 0.622000 7 29 0 0 1 0 0 CDK4 1019 broad.mit.edu 37 12 58145430 58145430 + Translation_Start_Site SNP C C T rs104894340 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr12:58145430C>T ENST00000540325.1 - 0 241 CDK4_ENST00000312990.6_Missense_Mutation_p.R24H|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000257904.6_Missense_Mutation_p.R24H|CDK4_ENST00000551888.1_5'UTR P11802 CDK4_HUMAN cyclin-dependent kinase 4 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding p.R24L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GTGGGGATCACGGGCCTTGTA 0.557000 Mis melanoma Hereditary Melanoma 12 39 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37974922 37974922 + Missense_Mutation SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:37974922G>A ENST00000330173.1 + 5 927 c.398G>A c.(397-399)gGc>gAc p.G133D ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.G189D NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 133 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) AAATGTGAGGGCTATTTTGAA 0.368000 15 54 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151128426 151128426 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chrX:151128426C>T ENST00000370325.1 - 6 722 c.669G>A c.(667-669)atG>atA p.M223I GABRE_ENST00000393914.3_Missense_Mutation_p.M30I|GABRE_ENST00000370328.3_Missense_Mutation_p.M223I P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 223 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) ACTTGTAGATCATCTCATTCT 0.413000 23 7 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3123134 3123134 + Silent SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr4:3123134T>C ENST00000355072.5 + 9 1393 c.1248T>C c.(1246-1248)cgT>cgC p.R416R NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 416 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCCGAAGCCGTAGTGGGAGTA 0.498000 6 33 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79615001 79615001 + RNA SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:79615001G>A ENST00000328585.4 + 0 835 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CGACCCCCGCGAAGATGGAGC 0.652000 4 17 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100949960 100949960 + Missense_Mutation SNP A A T rs140849467 byFrequency TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:100949960A>T ENST00000336454.3 + 11 1445 c.1090A>T c.(1090-1092)Att>Ttt p.I364F CDC14A_ENST00000544534.1_Missense_Mutation_p.I364F|CDC14A_ENST00000542213.1_Missense_Mutation_p.I306F|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000370124.3_Missense_Mutation_p.I364F|CDC14A_ENST00000361544.6_Missense_Mutation_p.I364F NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 364 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) TGATATGTCTATTGGTGGAAA 0.368000 14 41 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225750 39225750 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr3:39225750C>T ENST00000340369.3 - 2 5415 c.5187G>A c.(5185-5187)gtG>gtA p.V1729V XIRP1_ENST00000421646.1_Silent_p.V412V|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1729 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTTCAGGTTGCACAGAGCACT 0.572000 14 34 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107386774 107386774 + Silent SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr12:107386774G>A ENST00000008527.5 - 11 2493 c.1626C>T c.(1624-1626)ggC>ggT p.G542G NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 542 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding p.G542G(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 GCTGACTGTCGCCATGAGCAT 0.333000 3 29 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18289716 18289716 + Missense_Mutation SNP C C G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr10:18289716C>G ENST00000377369.2 + 11 1994 c.1721C>G c.(1720-1722)aCg>aGg p.T574R SLC39A12_ENST00000539911.1_Missense_Mutation_p.T440R|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T573R|SLC39A12_ENST00000377374.4_Missense_Mutation_p.T537R NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 574 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.T537M(1) 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 GTGACCACTACGATTGCTATC 0.443000 4 19 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71713371 71713371 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr16:71713371C>T ENST00000393524.2 - 6 1691 c.958G>A c.(958-960)Gag>Aag p.E320K PHLPP2_ENST00000356272.3_Missense_Mutation_p.E320K|PHLPP2_ENST00000568954.1_Missense_Mutation_p.E320K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E355K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E320K Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 320 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GTAGAGATCTCGCATAACAAT 0.378000 19 15 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208165 58208165 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr13:58208165C>T ENST00000377918.3 + 1 1511 c.1485C>T c.(1483-1485)ctC>ctT p.L495L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 495 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCTCTGTGCTCGCCCAGGATC 0.577000 6 40 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33276308 33276308 + Silent SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:33276308T>C ENST00000373477.4 - 3 1172 c.264A>G c.(262-264)gaA>gaG p.E88E NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 88 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) GTTCTAGAAGTTCCCATGGGG 0.468000 6 47 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438358 120438358 + Missense_Mutation SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:120438358T>C ENST00000369400.1 - 1 760 c.602A>G c.(601-603)cAc>cGc p.H201R NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 201 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GTACTTTGGGTGTTTATAGGA 0.403000 7 234 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182827968 182827968 + Missense_Mutation SNP C C A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:182827968C>A ENST00000367549.3 + 10 1111 c.1001C>A c.(1000-1002)cCt>cAt p.P334H NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 334 MTAD. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 CCTTGGTCACCTCCACAATCC 0.468000 29 45 5.77227e-19 6.28374e-19 1 1 0 GCN1L1 10985 broad.mit.edu 37 12 120589192 120589192 + Missense_Mutation SNP G G C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr12:120589192G>C ENST00000300648.6 - 34 4078 c.4066C>G c.(4066-4068)Cag>Gag p.Q1356E NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1356 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACGGACTCCTGGACCTGGGGA 0.597000 4 16 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171076936 171076936 + Missense_Mutation SNP G G A rs72549325 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:171076936G>A ENST00000367755.4 + 4 553 c.442G>A c.(442-444)Gga>Aga p.G148R FMO3_ENST00000392085.2_Missense_Mutation_p.G148R|FMO3_ENST00000538429.1_Missense_Mutation_p.G85R|FMO3_ENST00000542847.1_Missense_Mutation_p.G128R NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 148 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGTTTGTTCCGGACATCATGT 0.403000 43 109 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175304874 175304874 + Missense_Mutation SNP C C A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:175304874C>A ENST00000367674.1 - 20 4312 c.3604G>T c.(3604-3606)Ggg>Tgg p.G1202W TNR_ENST00000263525.2_Missense_Mutation_p.G1202W NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1202 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCACGTTCCCGAAGCCAACA 0.438000 51 121 6.09941e-20 6.72499e-20 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11514055 11514055 + Missense_Mutation SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr7:11514055T>C ENST00000423059.3 - 8 2409 c.2158A>G c.(2158-2160)Acg>Gcg p.T720A AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 720 TSP type-1 7. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCCAAGTCGTAGTTGTGTTG 0.522000 HNSCC(18;0.044) 10 151 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20422908 20422908 + Missense_Mutation SNP G G C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr16:20422908G>C ENST00000331849.4 + 2 249 c.102G>C c.(100-102)aaG>aaC p.K34N ACSM5_ENST00000575584.1_Missense_Mutation_p.K34N NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 34 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TTCCTCAGAAGATCGTGGCCA 0.577000 11 37 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34258076 34258076 + Missense_Mutation SNP G G T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:34258076G>T ENST00000373381.4 - 11 1674 c.1498C>A c.(1498-1500)Ctg>Atg p.L500M CSMD2_ENST00000338325.1_Missense_Mutation_p.L108M NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 460 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCGACCGTCAGGGTGTCATAG 0.572000 11 46 1.58986e-06 1.66742e-06 1 1 0 PROX1 5629 broad.mit.edu 37 1 214170989 214170989 + Missense_Mutation SNP T T G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:214170989T>G ENST00000366958.4 + 2 1719 c.1111T>G c.(1111-1113)Ttt>Gtt p.F371V PROX1_ENST00000261454.4_Missense_Mutation_p.F371V|PROX1_ENST00000498508.2_Missense_Mutation_p.F371V|PROX1_ENST00000435016.1_Missense_Mutation_p.F371V NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 371 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GGTCAAAGTCTTTTCGGCCAA 0.527000 42 58 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622111 234622111 + Silent SNP G G A rs147117995 byFrequency TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr2:234622111G>A ENST00000373414.3 + 1 474 c.474G>A c.(472-474)gcG>gcA p.A158A UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron NM_019078.1 NP_061951.1 p.A158A(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ACCTCTGCGCGGCGGTGCTGG 0.493000 24 86 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 88 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100532572 100532572 + Missense_Mutation SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr4:100532572T>C ENST00000457717.1 + 15 2207 c.1951T>C c.(1951-1953)Ttt>Ctt p.F651L MTTP_ENST00000265517.5_Missense_Mutation_p.F651L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.F678L NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 651 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCTGAACATCTTTCAGTACAT 0.433000 14 52 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735162 54735162 + Silent SNP T T C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr6:54735162T>C ENST00000306858.7 + 2 234 c.118T>C c.(118-120)Tta>Cta p.L40L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 40 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGAACACGGGTTAGAAGCATA 0.373000 30 59 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606171 1606171 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr11:1606171C>T ENST00000382171.2 - 1 342 c.309G>A c.(307-309)ggG>ggA p.G103G KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 103 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCTTGGAGCCCCCACAGGAGC 0.672000 4 40 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371226 48371226 + Missense_Mutation SNP A A G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr10:48371226A>G ENST00000395702.2 + 2 921 c.694A>G c.(694-696)Act>Gct p.T232A ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.T125A Q96MN9 ZN488_HUMAN zinc finger protein 488 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 ACTCTGTAGCACTTTTCTGGG 0.567000 19 45 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589456 17589456 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr22:17589456C>T ENST00000319363.6 + 13 1480 c.1347C>T c.(1345-1347)cgC>cgT p.R449R NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 449 SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) TGTGCTCCCGCGGCACGCGCG 0.672000 4 31 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31711467 31711467 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr13:31711467C>T ENST00000320027.5 - 18 2909 c.2565G>A c.(2563-2565)atG>atA p.M855I HSPH1_ENST00000380406.5_Missense_Mutation_p.M814I|HSPH1_ENST00000429785.2_Missense_Mutation_p.M674I|HSPH1_ENST00000445273.2_Missense_Mutation_p.M857I|HSPH1_ENST00000380405.4_Missense_Mutation_p.M811I NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 855 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) AGTCCAAGTCCATATTAACAG 0.299000 6 52 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63520108 63520108 + Missense_Mutation SNP C C G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr11:63520108C>G ENST00000377819.5 + 5 3022 c.2868C>G c.(2866-2868)gaC>gaG p.D956E RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D844E|RTN3_ENST00000537981.1_Missense_Mutation_p.D160E|RTN3_ENST00000356000.3_Missense_Mutation_p.D179E|RTN3_ENST00000341307.2_Missense_Mutation_p.D160E|RTN3_ENST00000339997.4_Missense_Mutation_p.D937E NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 956 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ATCTGGTTGACTCCTTGAAGG 0.413000 15 44 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19748461 19748461 + Missense_Mutation SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr7:19748461G>A ENST00000222567.5 - 1 249 c.179C>T c.(178-180)tCg>tTg p.S60L NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 60 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 GTAGCGGGGCGACAGCGCGAT 0.582000 OREG0017879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 92 0 0 1 0 0 C16orf59 80178 broad.mit.edu 37 16 2514205 2514205 + Missense_Mutation SNP T T G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr16:2514205T>G ENST00000569496.1 + 9 1189 c.1130T>G c.(1129-1131)cTg>cGg p.L377R C16orf59_ENST00000361837.4_Missense_Mutation_p.L377R|C16orf59_ENST00000483320.1_Missense_Mutation_p.L210R|C16orf59_ENST00000563531.1_Missense_Mutation_p.L377R Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 377 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) GTGGCTGTGCTGGACCAGCAG 0.642000 5 16 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40797677 40797677 + Missense_Mutation SNP C C A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr22:40797677C>A ENST00000248929.9 + 3 277 c.88C>A c.(88-90)Cag>Aag p.Q30K SGSM3_ENST00000454798.2_Intron NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 30 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CAAGTACACGCAGGTATAGCA 0.587000 3 33 0.150653 0.152426 1 1 0 ALOX12B 242 broad.mit.edu 37 17 7990713 7990713 + Silent SNP C C A rs149687727 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:7990713C>A ENST00000319144.4 - 1 308 c.48G>T c.(46-48)tcG>tcT p.S16S NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 16 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity p.S16S(1) endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 CCCGTGTTCCCGACAAGAGGT 0.597000 Multiple Myeloma(8;0.094) 15 33 5.01169e-05 5.19284e-05 1 1 0 LAMC2 3918 broad.mit.edu 37 1 183212407 183212407 + Nonsense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:183212407C>T ENST00000264144.4 + 23 3519 c.3454C>T c.(3454-3456)Cag>Tag p.Q1152* NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 1152 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 GGCACGTCAGCAGAGGGGCCA 0.562000 4 104 0 0 1 0 0 RLN3 117579 broad.mit.edu 37 19 14141641 14141641 + Nonsense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:14141641C>T ENST00000431365.2 + 2 367 c.310C>T c.(310-312)Cga>Tga p.R104* RLN3_ENST00000585987.1_3'UTR NM_080864.2 NP_543140.1 Q8WXF3 REL3_HUMAN relaxin 3 104 extracellular region hormone activity endometrium(1)|lung(4) 5 TTACAGGGGGCGACCCAGCTG 0.622000 9 40 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115258744 115258744 + Missense_Mutation SNP C C T rs121434596 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:115258744C>T ENST00000369535.4 - 2 291 c.38G>A c.(37-39)gGt>gAt p.G13D NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 13 G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.G13D(188)|p.G13V(56)|p.G13A(16)|p.G13N(1)|p.G13Y(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTCCCAACACCACCTGCTCC 0.498000 G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 246 41 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 982066 982066 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:982066C>T ENST00000379370.2 + 18 3251 c.3201C>T c.(3199-3201)agC>agT p.S1067S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1067 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) ATGGAAGCAGCGATGAGGAAC 0.692000 3 16 0 0 1 0 0 THOP1 7064 broad.mit.edu 37 19 2811639 2811639 + Silent SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:2811639C>T ENST00000307741.6 + 12 2018 c.1815C>T c.(1813-1815)taC>taT p.Y605Y THOP1_ENST00000395212.4_Silent_p.Y116Y|THOP1_ENST00000586677.1_Silent_p.Y484Y NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 605 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) CAGGTGGCTACGACGCCCAGT 0.612000 6 20 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36700203 36700203 + Splice_Site SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:36700203C>T ENST00000264659.7 - 18 3496 c.3270_splice c.e18-1 p.S1091_splice SRCIN1_ENST00000578925.1_Splice_Site_p.S1125_splice|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 963 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GCCTCCGCCACTCTGCAGGAA 0.637000 3 1 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 25 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48985942 48985942 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr13:48985942C>T ENST00000378434.4 - 7 2242 c.618G>A c.(616-618)atG>atA p.M206I RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M206I NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 206 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 TTTTTAGCACCATACTAGAAC 0.279000 5 28 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147631261 147631261 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr6:147631261C>T ENST00000367481.3 + 10 1067 c.959C>T c.(958-960)aCt>aTt p.T320I STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_Missense_Mutation_p.T320I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T320I NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 320 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TCATATGATACTGTAGGAAGA 0.333000 15 56 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73478014 73478014 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr9:73478014C>T ENST00000377110.2 - 3 515 c.272G>A c.(271-273)cGt>cAt p.R91H TRPM3_ENST00000377111.2_Missense_Mutation_p.R91H|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.R93H|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.R93H|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 91 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCCTATCAGACGCCCACAGCA 0.468000 21 22 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61084778 61084778 + Missense_Mutation SNP A A T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr13:61084778A>T ENST00000196169.3 + 10 1539 c.751A>T c.(751-753)Agg>Tgg p.R251W TDRD3_ENST00000377894.2_Missense_Mutation_p.R251W|TDRD3_ENST00000535286.1_Missense_Mutation_p.R344W|TDRD3_ENST00000377881.2_Missense_Mutation_p.R251W NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 251 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AGGAAAAGGCAGGGGGCGAAT 0.343000 19 13 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31789497 31789497 + Missense_Mutation SNP G G A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr3:31789497G>A ENST00000396556.2 - 5 967 c.845C>T c.(844-846)tCt>tTt p.S282F OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.S218F NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 282 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GGTGGCAGCAGAGGTAGCTTT 0.632000 16 55 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 1998896 1998896 + Missense_Mutation SNP G G C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr8:1998896G>C ENST00000262113.4 + 2 157 c.16G>C c.(16-18)Gtc>Ctc p.V6L MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 6 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCTTGTGACTGTCCCCTTCTA 0.488000 5 45 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170508539 170508539 + Missense_Mutation SNP A A G TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:170508539A>G ENST00000367763.3 + 2 345 c.325A>G c.(325-327)Act>Gct p.T109A GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Missense_Mutation_p.T109A NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 109 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TTCTTCCCCTACTCTTCCGAG 0.473000 10 108 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 437304 437304 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr4:437304C>T ENST00000338977.5 - 2 964 c.916G>A c.(916-918)Gca>Aca p.A306T ZNF721_ENST00000511833.2_Missense_Mutation_p.A318T|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TAAAGGTTTGCGGACTGTCTA 0.408000 3 45 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62238236 62238236 + Missense_Mutation SNP G G C TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:62238236G>C ENST00000258991.3 - 8 2834 c.2750C>G c.(2749-2751)aCc>aGc p.T917S TEX2_ENST00000584379.1_Missense_Mutation_p.T910S|TEX2_ENST00000583097.1_Missense_Mutation_p.T910S Q8IWB9 TEX2_HUMAN testis expressed 2 910 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ATTCATTTTGGTCTCGAGAGT 0.398000 14 81 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 23 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 4 3 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 7 829 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 72 --- --- --- --- HIST2H2BB 338391 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 12 13 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 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) CACGCCCAGGGCTGCCCCGCGGC 0.764 5 1 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 5 4 --- --- --- --- ZNF567 163081 broad.mit.edu 37 19 37209935 37209936 + Frame_Shift_Ins INS - - A TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 138BE5AA-3758-452E-BDDB-F7AE6181A935 65DFAA7E-4637-4556-9A97-4430C74BDAC2 g.chr19:37209935_37209936insA ENST00000585696.1 + 3 1446_1447 c.216_217insA c.(214-219)caaaaafs p.QK72fs ZNF567_ENST00000536254.2_Frame_Shift_Ins_p.QK103fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.QK72fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.QK72fs|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.QK72fs Q8N184 ZN567_HUMAN zinc finger protein 567 103 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GCATCAACCACAAAAAACTGGT 0.327 11 38 --- --- --- ---