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 MOG 4340 broad.mit.edu 37 6 29625047 29625047 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:29625047C>T ENST00000376894.4 + 1 179 c.61C>T c.(61-63)Ctc>Ttc p.L21F MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Missense_Mutation_p.L21F|MOG_ENST00000376902.3_Missense_Mutation_p.L21F|MOG_ENST00000396701.2_Missense_Mutation_p.L21F|MOG_ENST00000431798.2_Missense_Mutation_p.L21F|MOG_ENST00000376888.2_Missense_Mutation_p.L21F|MOG_ENST00000376917.3_Missense_Mutation_p.L21F|MOG_ENST00000416766.2_Missense_Mutation_p.L21F|MOG_ENST00000396704.3_Missense_Mutation_p.L21F|MOG_ENST00000533330.2_Missense_Mutation_p.L21F|MOG_ENST00000376891.4_Missense_Mutation_p.L21F|MOG_ENST00000490427.1_Missense_Mutation_p.L21F|MOG_ENST00000483013.1_Missense_Mutation_p.L21F|MOG_ENST00000494692.1_Missense_Mutation_p.L21F Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 21 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 cctcctcctcctcctccAAGT 0.552000 11 16 0 0 0.000978 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649205 75649205 + Silent SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:75649205C>G ENST00000361470.2 + 1 1160 c.882C>G c.(880-882)acC>acG p.T294T NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 294 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GATCAAGCACCTCCGTGCCCC 0.706000 6 6 0 0 0.001168 0 0 OR10J5 127385 broad.mit.edu 37 1 159504995 159504995 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:159504995T>G ENST00000334857.2 - 1 847 c.803A>C c.(802-804)gAa>gCa p.E268A NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AAGGTCTTTTTCTATTGAACT 0.483000 21 70 0 0 0.001882 0 0 PALLD 23022 broad.mit.edu 37 4 169632881 169632881 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:169632881G>A ENST00000335742.7 + 10 1982 c.625G>A c.(625-627)Gag>Aag p.E209K PALLD_ENST00000505667.1_Missense_Mutation_p.E591K|PALLD_ENST00000261509.6_Missense_Mutation_p.E591K|PALLD_ENST00000512127.1_Missense_Mutation_p.E209K Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 591 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAACAACCCTGAGTTAGGCCT 0.507000 Pancreatic Cancer, Familial Clustering of 24 57 0 0 0.007291 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179315211 179315211 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:179315211G>A ENST00000356834.3 - 7 1183 c.1146C>T c.(1144-1146)gaC>gaT p.D382D TBC1D9B_ENST00000355235.3_Silent_p.D382D NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 382 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAAATCACGGTCTTTCAGGT 0.522000 28 135 0 0 0.005443 0 0 MXRA5 25878 broad.mit.edu 37 X 3239636 3239636 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:3239636C>T ENST00000217939.6 - 5 4244 c.4090G>A c.(4090-4092)Gaa>Aaa p.E1364K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1364 extracellular region p.E1364*(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCTTAAATTCTCCCATAGTG 0.468000 13 5 0 0 0.002450 0 0 HERC2 8924 broad.mit.edu 37 15 28502311 28502311 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:28502311G>A ENST00000261609.7 - 17 2521 c.2413C>T c.(2413-2415)Ctg>Ttg p.L805L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 805 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGCCGAAGCAGGAGATCCAGC 0.557000 30 35 0 0 0.007291 0 0 CRIM1 51232 broad.mit.edu 37 2 36749303 36749303 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:36749303G>A ENST00000280527.2 + 13 2642 c.2275G>A c.(2275-2277)Gat>Aat p.D759N NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 759 VWFC 5. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TGATGAAGGGGATATATTCCT 0.448000 72 36 0 0 0.003610 0 0 GEMIN4 50628 broad.mit.edu 37 17 650010 650010 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:650010A>T ENST00000576778.1 - 1 2581 c.1240T>A c.(1240-1242)Ttt>Att p.F414I GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.F425I P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 425 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCAGAGGCAAAAATGTAGCAC 0.562000 11 27 0 0 0.008291 0 0 MARC1 64757 broad.mit.edu 37 1 220971337 220971337 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:220971337G>A ENST00000366910.5 + 4 920 c.734G>A c.(733-735)gGa>gAa p.G245E MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 245 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GTAATTTCAGGATGCGATGTC 0.423000 54 215 0 0 0.003610 0 0 KLHL40 131377 broad.mit.edu 37 3 42733442 42733442 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:42733442T>G ENST00000287777.4 + 6 1923 c.1823T>G c.(1822-1824)tTc>tGc p.F608C NM_152393.2 NP_689606.2 kelch-like family member 40 GGTGCCACCTTCCTACCAGTG 0.582000 34 52 0 0 0.004878 0 0 OR1J2 26740 broad.mit.edu 37 9 125273173 125273173 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:125273173C>T ENST00000335302.5 + 1 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TCACCCTGTTCCTGGGCATGT 0.587000 64 51 0 0 0.003610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361321 70361321 + Nonsense_Mutation SNP C C A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:70361321C>A ENST00000305107.6 - 1 305 c.259G>T c.(259-261)Gag>Tag p.E87* UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.E87* NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 87 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ATAATATCCTCAAACTCAGTT 0.358000 14 25 4.3838e-07 5.25371e-07 0.001855 1 0 TNXB 7148 broad.mit.edu 37 6 32046847 32046847 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:32046847C>T ENST00000375244.3 - 11 4539 c.4338G>A c.(4336-4338)ggG>ggA p.G1446G TNXB_ENST00000375247.2_Silent_p.G1446G P22105 TENX_HUMAN tenascin XB 1533 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 CCACGCGCTGCCCCTCGTGGA 0.687000 44 190 0 0 0.002522 0 0 ENPP4 22875 broad.mit.edu 37 6 46107699 46107699 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:46107699G>A ENST00000321037.4 + 2 609 c.379G>A c.(379-381)Gaa>Aaa p.E127K NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 127 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TCAGCTTCAGGAAAACAGATC 0.418000 43 81 0 0 0.008740 0 0 FANCI 55215 broad.mit.edu 37 15 89848902 89848902 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:89848902G>A ENST00000310775.7 + 31 3408 c.3322G>A c.(3322-3324)Gga>Aga p.G1108R FANCI_ENST00000300027.8_Missense_Mutation_p.G1048R NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1108 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CAAGCTTAAGGGACAAGTGAG 0.433000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 56 0 0 0.007291 0 0 FLAD1 80308 broad.mit.edu 37 1 154956339 154956339 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:154956339C>T ENST00000368433.1 + 1 512 c.169C>T c.(169-171)Ctg>Ttg p.L57L FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000292180.3_Silent_p.L57L|FLAD1_ENST00000315144.10_5'UTR Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 57 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCAGGACCCCCTGTTCCCAGG 0.627000 21 58 0 0 0.001523 0 0 SYTL2 54843 broad.mit.edu 37 11 85436401 85436401 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:85436401G>A ENST00000359152.5 - 1 2670 c.2671C>T c.(2671-2673)Ccc>Tcc p.P891S SYTL2_ENST00000354566.3_Missense_Mutation_p.P367S|SYTL2_ENST00000525423.1_Missense_Mutation_p.P367S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GCATCCTGGGGAAAAAGCATA 0.493000 22 42 0 0 0.001523 0 0 TEKT5 146279 broad.mit.edu 37 16 10721525 10721525 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:10721525G>A ENST00000283025.2 - 7 1444 c.1373C>T c.(1372-1374)gCc>gTc p.A458V TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 458 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GAGGGTGTTGGCCTTGATGGC 0.657000 27 47 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9046526 9046526 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9046526G>A ENST00000397910.4 - 5 35308 c.35105C>T c.(35104-35106)tCc>tTc p.S11702F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11704 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 GGTTGTTCTGGAAACAGGTGT 0.507000 48 83 0 0 0.003610 0 0 SYNJ2 8871 broad.mit.edu 37 6 158509751 158509751 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:158509751C>G ENST00000355585.4 + 24 3478 c.3403C>G c.(3403-3405)Cag>Gag p.Q1135E SYNJ2_ENST00000367122.2_Missense_Mutation_p.Q1090E|SYNJ2_ENST00000367121.3_Missense_Mutation_p.Q1135E|SYNJ2_ENST00000367112.1_Missense_Mutation_p.Q220E NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1135 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CACCCATGGACAGTATTCAAT 0.502000 47 91 0 0 0.003610 0 0 VWA9 81556 broad.mit.edu 37 15 65890674 65890674 + Nonsense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:65890674T>A ENST00000395644.4 - 6 1068 c.733A>T c.(733-735)Aaa>Taa p.K245* VWA9_ENST00000420799.2_Nonsense_Mutation_p.K188*|VWA9_ENST00000313182.2_Nonsense_Mutation_p.K245*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.K196*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.K166*|VWA9_ENST00000567744.1_Nonsense_Mutation_p.K281*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.K209* von Willebrand factor A domain containing 9 TTAATGACTTTAGGGATAGGA 0.373000 11 44 0 0 0.001368 0 0 NCAM1 4684 broad.mit.edu 37 11 113102975 113102975 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:113102975C>T ENST00000316851.7 + 10 1294 c.1294C>T c.(1294-1296)Ccc>Tcc p.P432S NCAM1_ENST00000533760.1_Missense_Mutation_p.P314S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.P441S NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 442 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATTTGCCTATCCCAGTGCCAC 0.517000 17 15 0 0 0.004007 0 0 CD320 51293 broad.mit.edu 37 19 8367827 8367827 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:8367827G>A ENST00000301458.5 - 4 604 c.540C>T c.(538-540)acC>acT p.T180T CD320_ENST00000537716.2_Silent_p.T138T NM_016579.3 NP_057663.1 Q9NPF0 CD320_HUMAN CD320 molecule 180 regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2) 6 GGGGCCCCATGGTTGTGGCAT 0.602000 15 20 0 0 0.004007 0 0 CC2D2A 57545 broad.mit.edu 37 4 15558949 15558949 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:15558949A>G ENST00000424120.1 + 21 2902 c.2648A>G c.(2647-2649)tAt>tGt p.Y883C CC2D2A_ENST00000413206.1_Missense_Mutation_p.Y883C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.Y883C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.Y834C Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 883 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GGTGAATCCTATGTCCCTGAT 0.393000 15 46 0 0 0.004990 0 0 KCNH8 131096 broad.mit.edu 37 3 19295239 19295239 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:19295239G>A ENST00000328405.2 + 2 436 c.170G>A c.(169-171)cGa>cAa p.R57Q NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 57 PAS. integral to membrane two-component sensor activity p.R57Q(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GGATTTGCCCGAACTGAAGTC 0.458000 81 133 0 0 0.003610 0 0 TAT 6898 broad.mit.edu 37 16 71610158 71610158 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:71610158T>C ENST00000355962.4 - 2 294 c.161A>G c.(160-162)aAc>aGc p.N54S RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 54 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.N54S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TCGGATGGGGTTGAAAGTTTT 0.507000 10 26 0 0 0.008291 0 0 RASSF5 83593 broad.mit.edu 37 1 206711522 206711522 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:206711522C>T ENST00000338603.2 + 2 536 c.479C>T c.(478-480)cCa>cTa p.P160L RASSF5_ENST00000367117.3_Missense_Mutation_p.P160L|RASSF5_ENST00000355294.4_Missense_Mutation_p.P160L NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 160 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ACCTGTCACCCAGAATGCCGC 0.532000 30 173 0 0 0.001786 0 0 KIF23 9493 broad.mit.edu 37 15 69733239 69733239 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:69733239C>T ENST00000260363.4 + 18 2317 c.2200C>T c.(2200-2202)Cct>Tct p.P734S KIF23_ENST00000352331.4_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.P734S|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 734 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding p.P734S(1) central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 GCAGAAAATTCCTACGTACAA 0.502000 21 19 0 0 0.001882 0 0 ZNF827 152485 broad.mit.edu 37 4 146770626 146770626 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:146770626G>A ENST00000508784.1 - 6 2296 c.2069C>T c.(2068-2070)cCc>cTc p.P690L ZNF827_ENST00000513320.1_Missense_Mutation_p.P340L|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Missense_Mutation_p.P690L Q17R98 ZN827_HUMAN zinc finger protein 827 690 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ATTCCGGCTGGGTGATATCGA 0.507000 38 79 0 0 0.008740 0 0 LBP 3929 broad.mit.edu 37 20 36997662 36997662 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:36997662G>A ENST00000217407.2 + 10 1166 c.1005G>A c.(1003-1005)atG>atA p.M335I NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 335 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) ACCCCAACATGAACCTGGAAC 0.507000 38 66 0 0 0.004878 0 0 PTPRB 5787 broad.mit.edu 37 12 70949780 70949780 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:70949780C>T ENST00000334414.6 - 19 4907 c.4863G>A c.(4861-4863)ctG>ctA p.L1621L PTPRB_ENST00000550857.1_Silent_p.L1313L|PTPRB_ENST00000550358.1_Silent_p.L1533L|PTPRB_ENST00000538708.1_Silent_p.L1313L|PTPRB_ENST00000451516.2_Silent_p.L1313L|PTPRB_ENST00000261266.5_Silent_p.L1403L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1403 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTTCTTTCTCCAGCTTTCTGG 0.478000 17 45 0 0 0.008871 0 0 CDH23 64072 broad.mit.edu 37 10 73491806 73491806 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:73491806G>A ENST00000224721.6 + 31 3798 c.3793G>A c.(3793-3795)Gag>Aag p.E1265K C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1260 Cadherin 12. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGAGATTGACGAGAGCACAGG 0.562000 8 17 0 0 0.003080 0 0 DCBLD1 285761 broad.mit.edu 37 6 117853555 117853555 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:117853555G>A ENST00000338728.5 + 6 838 c.719_splice c.e6+1 p.D240_splice GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Splice_Site_p.D240_splice|DCBLD1_ENST00000368503.4_Splice_Site_p.D240_splice Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 240 LCCL. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TCTTTCGAGGGAGTAAGTATT 0.423000 9 14 0 0 0.006214 0 0 KLHL13 90293 broad.mit.edu 37 X 117053560 117053560 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:117053560T>C ENST00000371876.1 - 3 2762 c.341A>G c.(340-342)cAa>cGa p.Q114R KLHL13_ENST00000539496.1_Missense_Mutation_p.Q168R|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q114R|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q149R|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q123R|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q114R|KLHL13_ENST00000262820.3_Missense_Mutation_p.Q165R|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q114R|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q149R Q9P2N7 KLH13_HUMAN kelch-like family member 13 165 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAGCGTGTCTTGAAGGTTGTC 0.363000 43 15 0 0 0.008740 0 0 PGK2 5232 broad.mit.edu 37 6 49753680 49753680 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:49753680G>A ENST00000304801.3 - 1 1373 c.1221C>T c.(1219-1221)atC>atT p.I407I NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 407 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTCCAGGAAGGATTTTACCTT 0.458000 35 67 0 0 0.003271 0 0 ZNF148 7707 broad.mit.edu 37 3 124951260 124951260 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:124951260G>A ENST00000360647.4 - 9 2795 c.2310C>T c.(2308-2310)ccC>ccT p.P770P ZNF148_ENST00000485866.1_Silent_p.P770P|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Silent_p.P107P|ZNF148_ENST00000492394.1_Silent_p.P770P|ZNF148_ENST00000484491.1_Silent_p.P770P|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Silent_p.P120P NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 770 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CATTCACCAAGGGAAATTCTG 0.403000 19 12 0 0 0.001523 0 0 HEY2 23493 broad.mit.edu 37 6 126080793 126080793 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:126080793C>T ENST00000368364.3 + 5 1056 c.859C>T c.(859-861)Ccc>Tcc p.P287S HEY2_ENST00000368365.1_Missense_Mutation_p.P241S NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 287 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GGGGGCATTCCCCATGCTTCC 0.667000 55 130 0 0 0.003610 0 0 PDX1 3651 broad.mit.edu 37 13 28498646 28498646 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:28498646C>T ENST00000381033.4 + 2 779 c.660C>T c.(658-660)gtC>gtT p.V220V NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 220 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GTGGCGGGGTCGCGGAGCCTG 0.701000 77 58 0 0 0.003610 0 0 P2RX3 5024 broad.mit.edu 37 11 57115696 57115696 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:57115696G>A ENST00000263314.2 + 5 478 c.444G>A c.(442-444)gaG>gaA p.E148E NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 148 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GGACCTGTGAGATCCAGGGCT 0.622000 8 20 0 0 0.000978 0 0 DSC2 1824 broad.mit.edu 37 18 28669455 28669455 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:28669455C>T ENST00000280904.6 - 5 1020 c.577G>A c.(577-579)Gga>Aga p.G193R DSC2_ENST00000251081.6_Missense_Mutation_p.G193R NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 193 Cadherin 1. 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) TACAAGTTTCCAGTGTCTCTC 0.398000 20 46 0 0 0.005443 0 0 C1RL 51279 broad.mit.edu 37 12 7249655 7249655 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:7249655C>T ENST00000266542.4 - 6 888 c.796G>A c.(796-798)Ggc>Agc p.G266S C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Silent_p.T281T|C1RL_ENST00000504702.2_Intron NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 266 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCCCCACGGCCGTGGATACTG 0.617000 17 27 0 0 0.006122 0 0 MAP2K3 5606 broad.mit.edu 37 17 21201725 21201725 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:21201725G>A ENST00000342679.4 + 2 299 c.49_splice c.e2-1 p.G17_splice MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 17 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TCCATTCTAGGAAAATCCAAG 0.577000 55 217 0 0 0.003610 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200472 92200472 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:92200472G>A ENST00000212355.4 - 5 894 c.429C>T c.(427-429)tcC>tcT p.S143S TGFBR3_ENST00000525962.1_Silent_p.S143S|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.S143S NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 143 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CTGCTGTCAAGGAGAAGTTTG 0.443000 29 75 0 0 0.001786 0 0 DDX1 1653 broad.mit.edu 37 2 15770985 15770985 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:15770985C>T ENST00000381341.2 + 27 2567 c.2178C>T c.(2176-2178)ttC>ttT p.F726F DDX1_ENST00000233084.3_Silent_p.F726F Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 726 Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AGACATCTTTCCTGCATCTTG 0.418000 56 32 0 0 0.003610 0 0 KIF1A 547 broad.mit.edu 37 2 241689893 241689893 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:241689893T>G ENST00000498729.2 - 28 3176 c.2930A>C c.(2929-2931)aAg>aCg p.K977T KIF1A_ENST00000320389.7_Missense_Mutation_p.K876T NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 876 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CACCTCGCCCTTCTCGCTGAC 0.657000 17 14 0 0 0.006122 0 0 ZNF283 284349 broad.mit.edu 37 19 44352446 44352446 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:44352446C>T ENST00000324461.7 + 7 1990 c.1693C>T c.(1693-1695)Cat>Tat p.H565Y ZNF283_ENST00000588797.1_Missense_Mutation_p.H426Y NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TCAGAAAATTCATACCGGTGA 0.418000 22 34 0 0 0.001882 0 0 GJB6 10804 broad.mit.edu 37 13 20797125 20797125 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:20797125C>T ENST00000356192.6 - 5 1115 c.495G>A c.(493-495)tgG>tgA p.W165* GJB6_ENST00000241124.6_Nonsense_Mutation_p.W165*|GJB6_ENST00000400065.3_Nonsense_Mutation_p.W165*|GJB6_ENST00000400066.3_Nonsense_Mutation_p.W165* NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 165 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) ATTTCAACACCCAGGGCAGGT 0.448000 12 16 0 0 0.001855 0 0 DMXL2 23312 broad.mit.edu 37 15 51791231 51791231 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:51791231C>T ENST00000251076.5 - 18 4477 c.4190G>A c.(4189-4191)cGa>cAa p.R1397Q DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1397Q NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1397 cell junction|synaptic vesicle membrane Rab GTPase binding p.R1397Q(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ACTAATAGTTCGAGAGAGATG 0.413000 65 175 0 0 0.003610 0 0 MAPT 4137 broad.mit.edu 37 17 44060587 44060587 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:44060587G>A ENST00000344290.5 + 6 739 c.417G>A c.(415-417)gaG>gaA p.E139E MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000262410.5_Silent_p.E139E|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Silent_p.E139E|MAPT_ENST00000571987.1_Silent_p.E139E|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 139 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) TCCTCCGAGAGCCAGGCCCCC 0.667000 6 7 0 0 0.003080 0 0 BAAT 570 broad.mit.edu 37 9 104125033 104125033 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:104125033G>A ENST00000259407.2 - 4 1042 c.934C>T c.(934-936)Cct>Tct p.P312S BAAT_ENST00000395051.3_Missense_Mutation_p.P312S NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 312 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TCTTCAATAGGAAACAAATAT 0.453000 40 39 0 0 0.002522 0 0 UBE3B 89910 broad.mit.edu 37 12 109928861 109928861 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:109928861C>T ENST00000342494.3 + 9 1237 c.642C>T c.(640-642)acC>acT p.T214T UBE3B_ENST00000280774.5_Silent_p.T214T|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000434735.2_Silent_p.T214T|UBE3B_ENST00000537063.1_3'UTR NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 214 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TATTGTTAACCCGTGGCCTGG 0.393000 20 24 0 0 0.001882 0 0 NUP107 57122 broad.mit.edu 37 12 69136224 69136224 + Silent SNP G G A rs141296706 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:69136224G>A ENST00000229179.4 + 28 3092 c.2760G>A c.(2758-2760)ggG>ggA p.G920G NUP107_ENST00000378905.2_Silent_p.G681G|NUP107_ENST00000539906.1_Silent_p.G891G NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 920 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) ACCCATTAGGGTATGAAATTC 0.308000 21 48 0 0 0.002780 0 0 FLT4 2324 broad.mit.edu 37 5 180056974 180056974 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:180056974G>A ENST00000261937.6 - 5 723 c.645C>T c.(643-645)ttC>ttT p.F215F FLT4_ENST00000393347.3_Silent_p.F215F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F215F NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 215 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGTTGGAAAGGAAGTCCTGGT 0.632000 16 33 0 0 0.004990 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058565 79058565 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:79058565G>A ENST00000388820.4 - 19 3898 c.3688C>T c.(3688-3690)Ccc>Tcc p.P1230S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1230 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGCAGGTGGGGTGCTCCTCGG 0.647000 16 35 0 0 0.007413 0 0 ADAD2 161931 broad.mit.edu 37 16 84229830 84229830 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:84229830C>T ENST00000268624.3 + 9 1719 c.1626C>T c.(1624-1626)gtC>gtT p.V542V ADAD2_ENST00000315906.5_Silent_p.V460V|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 460 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CTCCCTACGTCCGGACCGCCC 0.697000 22 60 0 0 0.003330 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083719 107083719 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:107083719G>A ENST00000455737.1 - 0 6 CTCTCAGAAAGTATTTCCCAT 0.488000 6 5 0 0 0.001168 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433735 73433735 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:73433735G>A ENST00000263666.4 - 10 2096 c.1982C>T c.(1981-1983)cCt>cTt p.P661L PDZRN3_ENST00000479530.1_Missense_Mutation_p.P378L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P318L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P383L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P318L NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 661 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CAGGCCGTAAGGGGTGGCGCT 0.667000 26 51 0 0 0.005443 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813680 100813680 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:100813680G>A ENST00000323346.5 + 12 1826 c.1513G>A c.(1513-1515)Gag>Aag p.E505K SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E455K NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 505 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TGCTTCTGGGGAGAAACAGGA 0.473000 33 68 0 0 0.003271 0 0 FLG 2312 broad.mit.edu 37 1 152284451 152284451 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152284451G>A ENST00000368799.1 - 3 2946 c.2911C>T c.(2911-2913)Cgt>Tgt p.R971C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 971 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R971C(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGATCCACGATGGTTTCTG 0.577000 Ichthyosis 189 311 0 0 0.003610 0 0 KCNH4 23415 broad.mit.edu 37 17 40315269 40315269 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:40315269G>A ENST00000264661.3 - 14 2893 c.2561C>T c.(2560-2562)cCc>cTc p.P854L KCNH4_ENST00000607371.1_Missense_Mutation_p.P854L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 854 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CTGGGAGCGGGGCCTTGGCAG 0.597000 22 42 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9064386 9064386 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9064386G>A ENST00000397910.4 - 3 23263 c.23060C>T c.(23059-23061)cCa>cTa p.P7687L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7689 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 CGGGGAGGATGGAGGGCTGGT 0.552000 18 40 0 0 0.006122 0 0 PSAT1 29968 broad.mit.edu 37 9 80923395 80923395 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:80923395C>T ENST00000376588.3 + 6 704 c.636C>T c.(634-636)gtC>gtT p.V212V PSAT1_ENST00000347159.2_Silent_p.V212V NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 212 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TGGTGATTGTCCGTGATGACC 0.517000 26 24 0 0 0.001786 0 0 PKP2 5318 broad.mit.edu 37 12 32975492 32975492 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:32975492G>A ENST00000340811.4 - 8 1856 c.1748C>T c.(1747-1749)tCc>tTc p.S583F PKP2_ENST00000070846.6_Missense_Mutation_p.S627F NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 627 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GATATTCTGGGAATATTTCTC 0.413000 24 38 0 0 0.002299 0 0 TAF15 8148 broad.mit.edu 37 17 34144726 34144726 + Missense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:34144726G>T ENST00000588240.1 + 2 129 c.14G>T c.(13-15)gGa>gTa p.G5V AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.G5V|TAF15_ENST00000592237.1_5'UTR NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 5 Gln/Gly/Ser/Tyr-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) CTAGATTCTGGAAGTTACGGT 0.333000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 20 41 1.56452e-12 1.88291e-12 0.007413 1 0 VEGFC 7424 broad.mit.edu 37 4 177608419 177608419 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:177608419C>T ENST00000280193.2 - 6 1482 c.1067G>A c.(1066-1068)gGa>gAa p.G356E RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 356 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GGCACATTTTCCAGGATTTAG 0.438000 51 132 0 0 0.003610 0 0 HYAL4 23553 broad.mit.edu 37 7 123509239 123509239 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:123509239A>G ENST00000223026.4 + 3 1550 c.912A>G c.(910-912)acA>acG p.T304T HYAL4_ENST00000476325.1_Silent_p.T304T NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 304 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TTGTCTACACAAGGCTAGGGT 0.413000 9 29 0 0 0.004482 0 0 SLC22A13 9390 broad.mit.edu 37 3 38316508 38316508 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38316508G>A ENST00000450935.2 + 3 466 c.388G>A c.(388-390)Gac>Aac p.D130N SLC22A13_ENST00000311856.4_Silent_p.R222R Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 0 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) CCTCATGGAGGACGCAGGCCG 0.597000 41 82 0 0 0.008740 0 0 DNAH17 8632 broad.mit.edu 37 17 76482050 76482050 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:76482050G>A ENST00000389840.5 - 46 7349 c.7225C>T c.(7225-7227)Cca>Tca p.P2409S DNAH17_ENST00000585328.1_Missense_Mutation_p.P2418S|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACCTGCAGTGGGACATCGGGA 0.527000 14 36 0 0 0.002450 0 0 FAT3 120114 broad.mit.edu 37 11 92577503 92577503 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:92577503C>T ENST00000298047.6 + 18 10987 c.10970C>T c.(10969-10971)tCc>tTc p.S3657F FAT3_ENST00000409404.2_Missense_Mutation_p.S3657F|FAT3_ENST00000525166.1_Missense_Mutation_p.S3507F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3657 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) GAAAATGTGTCCCCTGAGGAC 0.572000 TCGA Ovarian(4;0.039) 165 328 0 0 0.003610 0 0 CDK13 8621 broad.mit.edu 37 7 40041576 40041576 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:40041576A>T ENST00000181839.4 + 5 2904 c.2299A>T c.(2299-2301)Atg>Ttg p.M767L CDK13_ENST00000340829.5_Missense_Mutation_p.M767L|CDK13_ENST00000484589.1_3'UTR NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 767 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TATTATCAATATGAAGGAAAT 0.323000 19 97 0 0 0.007413 0 0 RBBP6 5930 broad.mit.edu 37 16 24573272 24573272 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:24573272C>T ENST00000319715.4 + 10 1511 c.1079C>T c.(1078-1080)tCt>tTt p.S360F RBBP6_ENST00000348022.2_Missense_Mutation_p.S360F|RBBP6_ENST00000381039.3_Missense_Mutation_p.S360F NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 360 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CTGATGAGATCTCCGATATCA 0.443000 23 66 0 0 0.001882 0 0 SREBF2 6721 broad.mit.edu 37 22 42280955 42280955 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:42280955C>T ENST00000361204.4 + 11 2314 c.2148C>T c.(2146-2148)atC>atT p.I716I NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 716 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TGGTTGAGATCCATCTGACTG 0.587000 12 36 0 0 0.002450 0 0 CCDC8 83987 broad.mit.edu 37 19 46915445 46915445 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:46915445C>T ENST00000307522.3 - 1 1396 c.623G>A c.(622-624)cGg>cAg p.R208Q NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 208 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCACCCTCCGCTTCAGCTT 0.692000 8 19 0 0 0.003080 0 0 CHRM3 1131 broad.mit.edu 37 1 240072236 240072236 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:240072236G>A ENST00000255380.4 + 5 2264 c.1485G>A c.(1483-1485)gcG>gcA p.A495A NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 495 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCCTCAGTGCGATCTTGCTTG 0.498000 72 91 0 0 0.003610 0 0 CA10 56934 broad.mit.edu 37 17 49731087 49731087 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:49731087A>C ENST00000451037.2 - 5 1416 c.476T>G c.(475-477)aTc>aGc p.I159S CA10_ENST00000570565.1_Missense_Mutation_p.I84S|CA10_ENST00000442502.2_Missense_Mutation_p.I159S|CA10_ENST00000285273.4_Missense_Mutation_p.I159S|CA10_ENST00000340813.6_Missense_Mutation_p.I165S|CA10_ENST00000571918.1_5'UTR NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 159 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GTTATAGTGGATGAGCTGCAC 0.408000 11 33 0 0 0.000978 0 0 LDB2 9079 broad.mit.edu 37 4 16510176 16510176 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:16510176A>G ENST00000502640.1 - 7 1021 c.873T>C c.(871-873)agT>agC p.S291S LDB2_ENST00000503178.2_Silent_p.S167S|LDB2_ENST00000515064.1_Silent_p.S291S|LDB2_ENST00000441778.2_Silent_p.S291S|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000304523.5_Silent_p.S291S O43679 LDB2_HUMAN LIM domain binding 2 291 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GACTGGACAGACTCAGGTTTG 0.478000 26 42 0 0 0.005443 0 0 IGHG3 3502 broad.mit.edu 37 14 106237454 106237454 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:106237454C>T ENST00000390551.2 - 0 288 CTCACCAACTCTCTTGTCCAC 0.647000 24 41 0 0 0.003755 0 0 KIAA1549 57670 broad.mit.edu 37 7 138596019 138596019 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:138596019G>A ENST00000440172.1 - 4 3066 c.3018C>T c.(3016-3018)ttC>ttT p.F1006F KIAA1549_ENST00000242365.4_Silent_p.F956F|KIAA1549_ENST00000422774.1_Silent_p.F1006F NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1006 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCGTGTAAACGAAAGGACCGG 0.383000 O BRAF pilocytic astrocytoma 7 9 0 0 0.003080 0 0 TRHDE 29953 broad.mit.edu 37 12 73012732 73012732 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:73012732G>A ENST00000261180.4 + 13 2344 c.2248G>A c.(2248-2250)Gat>Aat p.D750N TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 750 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGAGGAGAAGGATTTTCTTCC 0.378000 20 53 0 0 0.002299 0 0 ABCG1 9619 broad.mit.edu 37 21 43646014 43646014 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:43646014G>A ENST00000398457.2 + 3 542 c.282G>A c.(280-282)tgG>tgA p.W94* ABCG1_ENST00000361802.2_Nonsense_Mutation_p.W92*|ABCG1_ENST00000398449.3_Nonsense_Mutation_p.W92*|ABCG1_ENST00000347800.2_Nonsense_Mutation_p.W89*|ABCG1_ENST00000343687.3_Nonsense_Mutation_p.W103*|ABCG1_ENST00000462050.1_3'UTR NM_207627.1|NM_207628.1 NP_997510.1|NP_997511.1 P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 92 ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GACCCTGGTGGAGGAAGAAAG 0.562000 43 99 0 0 0.003610 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146825806 146825806 + Missense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:146825806T>A ENST00000361727.3 + 7 1477 c.961T>A c.(961-963)Ttc>Atc p.F321I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 321 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGCATCCCTTTCTCTGGCAA 0.393000 HNSCC(39;0.1) 31 76 0 0 0.002096 0 0 OR51G1 79324 broad.mit.edu 37 11 4945490 4945490 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4945490C>T ENST00000321961.2 - 1 147 c.80G>A c.(79-81)gGc>gAc p.G27D MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAGATCCAGCCATGGAGACC 0.473000 11 22 0 0 0.008291 0 0 OBSCN 84033 broad.mit.edu 37 1 228505630 228505630 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:228505630C>T ENST00000570156.2 + 64 16832 c.16758C>T c.(16756-16758)gcC>gcT p.A5586A OBSCN_ENST00000284548.11_Silent_p.A4629A|OBSCN_ENST00000366709.4_Silent_p.A1748A|OBSCN_ENST00000422127.1_Silent_p.A4629A|OBSCN_ENST00000366707.4_Silent_p.A2263A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4629 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCCCTCAGCCCCTGAGAGCC 0.637000 27 40 0 0 0.003271 0 0 SHISA3 152573 broad.mit.edu 37 4 42403192 42403192 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:42403192C>T ENST00000319234.4 + 2 659 c.441C>T c.(439-441)ccC>ccT p.P147P NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 147 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 AGACCCTGCCCATGATCCTGA 0.607000 72 207 0 0 0.003610 0 0 FUT7 2529 broad.mit.edu 37 9 139925167 139925167 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:139925167C>T ENST00000314412.6 - 2 2042 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 342 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GGATCTCAGGCCTGAAACCAA 0.617000 8 10 0 0 0.006214 0 0 PITPNM2 57605 broad.mit.edu 37 12 123519106 123519106 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:123519106G>A ENST00000280562.5 - 2 237 c.32C>T c.(31-33)cCa>cTa p.P11L PITPNM2_ENST00000546049.1_Missense_Mutation_p.P11L|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P11L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P11L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P11L Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 11 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CACGGTCATTGGCAGAGGAAT 0.552000 34 76 0 0 0.005524 0 0 MYBPC3 4607 broad.mit.edu 37 11 47353667 47353667 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:47353667T>C ENST00000399249.2 - 32 3824 c.3770A>G c.(3769-3771)aAc>aGc p.N1257S MYBPC3_ENST00000545968.1_Missense_Mutation_p.N1257S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.N1256S Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1256 Ig-like C2-type 7. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GCCCTGTAAGTTGGTGGCCCT 0.652000 13 37 0 0 0.001368 0 0 DCC 1630 broad.mit.edu 37 18 50432669 50432669 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:50432669G>A ENST00000442544.2 + 3 1284 c.668G>A c.(667-669)gGa>gAa p.G223E DCC_ENST00000412726.1_Missense_Mutation_p.G71E NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 223 Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCAAGAACAGGAAATGAAGCA 0.428000 13 30 0 0 0.003163 0 0 TLR2 7097 broad.mit.edu 37 4 154625141 154625141 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:154625141C>T ENST00000260010.6 + 1 2490 c.1082C>T c.(1081-1083)tCa>tTa p.S361L NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 361 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CATTTAAAATCATTAGAATAC 0.323000 15 31 0 0 0.003163 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103173892 103173892 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:103173892C>T ENST00000375735.2 + 76 11310 c.11166C>T c.(11164-11166)ccC>ccT p.P3722P DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.P3729P NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3722 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAATTGAACCCATCTTGATAA 0.363000 20 25 0 0 0.008871 0 0 EPHA7 2045 broad.mit.edu 37 6 93967960 93967960 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:93967960C>T ENST00000369303.4 - 11 2151 c.1967G>A c.(1966-1968)gGg>gAg p.G656E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 656 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) ATCTCTTTTCCCTGGAAGTTT 0.383000 45 125 0 0 0.003610 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6427944 6427944 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:6427944C>T ENST00000449001.2 + 11 1707 c.1213C>T c.(1213-1215)Ctc>Ttc p.L405F PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L437F|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L437F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L437F NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 437 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CTCTGATGTGCTCCTTGTGAC 0.642000 22 37 0 0 0.002299 0 0 CNTRL 11064 broad.mit.edu 37 9 123919771 123919771 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:123919771C>T ENST00000373855.1 + 28 4649 c.4389C>T c.(4387-4389)ttC>ttT p.F1463F CNTRL_ENST00000373847.1_Silent_p.F911F|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.F911F|CNTRL_ENST00000238341.5_Silent_p.F1463F Q7Z7A1 CNTRL_HUMAN centriolin 1463 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 TTGAAAAGTTCACTGATGCCA 0.403000 12 18 0 0 0.001855 0 0 PARVB 29780 broad.mit.edu 37 22 44514984 44514984 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:44514984G>A ENST00000338758.6 + 4 403 c.340G>A c.(340-342)Gac>Aac p.D114N PARVB_ENST00000404989.1_Missense_Mutation_p.D77N|PARVB_ENST00000402876.3_Missense_Mutation_p.D114N|PARVB_ENST00000406477.3_Missense_Mutation_p.D147N NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 114 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) GCTGGAGGAAGACCTGTATGA 0.602000 44 106 0 0 0.003610 0 0 C1orf173 127254 broad.mit.edu 37 1 75078435 75078435 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:75078435G>A ENST00000326665.5 - 9 1277 c.1059C>T c.(1057-1059)ttC>ttT p.F353F RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.F156F NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 353 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 TCCCATTCAGGAAAAAGGTGA 0.423000 19 36 0 0 0.008871 0 0 KCNV2 169522 broad.mit.edu 37 9 2718438 2718438 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:2718438C>T ENST00000382082.3 + 1 937 c.699C>T c.(697-699)ttC>ttT p.F233F NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 233 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) AGGAACTCTTCCGCGACATGC 0.682000 8 11 0 0 0.008291 0 0 TSPAN10 83882 broad.mit.edu 37 17 79609470 79609470 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:79609470C>T ENST00000328585.4 + 0 122 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) CCCTTACTGTCCCAGGTGAGC 0.642000 33 80 0 0 0.007835 0 0 XIRP1 165904 broad.mit.edu 37 3 39229895 39229895 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:39229895G>A ENST00000340369.3 - 2 1270 c.1042C>T c.(1042-1044)Ctg>Ttg p.L348L XIRP1_ENST00000396251.1_Silent_p.L348L|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 348 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) GTCTCAAACAGATGCTGCTGC 0.602000 39 66 0 0 0.005524 0 0 KIF4B 285643 broad.mit.edu 37 5 154394968 154394968 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:154394968C>T ENST00000435029.4 + 1 1709 c.1549C>T c.(1549-1551)Ctc>Ttc p.L517F NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 517 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAGCATGCTCTCCATCAAGC 0.493000 21 27 0 0 0.008871 0 0 COL2A1 1280 broad.mit.edu 37 12 48375178 48375178 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:48375178C>T ENST00000380518.3 - 37 2575 c.2409_splice c.e37-1 p.G804_splice COL2A1_ENST00000337299.6_Splice_Site_p.G735_splice|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 804 Triple-helical region. G -> A (in hypochondrogenesis). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCCAACTTCTCCCTGAGGGTG 0.652000 8 25 0 0 0.003080 0 0 TMEM104 54868 broad.mit.edu 37 17 72832438 72832438 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:72832438A>G ENST00000335464.5 + 10 1265 c.1103A>G c.(1102-1104)aAc>aGc p.N368S TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.N368S NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 368 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) ATCAGCACCAACTTCCCCATC 0.622000 52 119 0 0 0.003610 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60344541 60344541 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:60344541C>T ENST00000581291.1 - 0 963 breast(2)|kidney(1)|lung(2) 5 AACGCCTGTTCGCCTTCTACC 0.597000 93 189 0 0 0.003610 0 0 BNC1 646 broad.mit.edu 37 15 83926632 83926632 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:83926632G>A ENST00000345382.2 - 5 2632 c.2547C>T c.(2545-2547)ccC>ccT p.P849P RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.P842P NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 849 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CCTCGCTCAAGGGGCCAGAGT 0.532000 27 56 0 0 0.005443 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249396 3249396 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:3249396G>A ENST00000389832.5 - 2 940 c.634C>T c.(634-636)Ccc>Tcc p.P212S MRGPRE_ENST00000436689.2_Missense_Mutation_p.P211S|AC109309.4_ENST00000418995.2_RNA Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 211 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGCCCCGGGGTGGGGGCCGC 0.677000 3 7 0 0 0.004672 0 0 LCT 3938 broad.mit.edu 37 2 136575460 136575460 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:136575460G>A ENST00000264162.2 - 6 1168 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 386 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.F386F(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CACCCCAGAGGAAGCCTTCAG 0.597000 81 32 0 0 0.003610 0 0 GPR148 344561 broad.mit.edu 37 2 131486883 131486883 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:131486883C>T ENST00000309926.4 + 1 241 c.159C>T c.(157-159)ttC>ttT p.F53F NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 53 CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) ACTGGCTTTTCCTTCCCTCAA 0.632000 32 18 0 0 0.002096 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444253 5444253 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5444253C>T ENST00000300778.4 + 1 913 c.823C>T c.(823-825)Cat>Tat p.H275Y HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCACTGGTCCATGTTATCAT 0.473000 29 54 0 0 0.005443 0 0 GALT 2592 broad.mit.edu 37 9 34647892 34647892 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:34647892C>T ENST00000378842.3 + 5 483 c.441C>T c.(439-441)atC>atT p.I147I GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Silent_p.I38I NM_000155.3 NP_000146.2 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 147 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) TCCCTGAGATCCGGGCTGTTG 0.592000 Galactosemia 26 53 0 0 0.004656 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200473 92200473 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:92200473G>A ENST00000212355.4 - 5 893 c.428C>T c.(427-429)tCc>tTc p.S143F TGFBR3_ENST00000525962.1_Missense_Mutation_p.S143F|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S143F NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 143 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TGCTGTCAAGGAGAAGTTTGC 0.438000 29 73 0 0 0.001786 0 0 PKP2 5318 broad.mit.edu 37 12 32955454 32955454 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:32955454C>T ENST00000340811.4 - 10 2158 c.2050G>A c.(2050-2052)Gaa>Aaa p.E684K PKP2_ENST00000070846.6_Missense_Mutation_p.E728K NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 728 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGGCCACTTTCCTTCTGGACA 0.453000 42 95 0 0 0.002852 0 0 RP1L1 94137 broad.mit.edu 37 8 10468037 10468037 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:10468037C>T ENST00000382483.3 - 4 3794 c.3571G>A c.(3571-3573)Gag>Aag p.E1191K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1191 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) GTGAAGTTCTCCGTCATGGCA 0.627000 11 20 0 0 0.001368 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213760 3213760 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:3213760C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA TGGCGGCCATCCTTATGGAAA 0.547000 25 44 0 0 0.003954 0 0 XYLT2 64132 broad.mit.edu 37 17 48434518 48434518 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:48434518G>A ENST00000017003.2 + 9 1895 c.1846G>A c.(1846-1848)Ggg>Agg p.G616R XYLT2_ENST00000507602.1_Missense_Mutation_p.G616R NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 616 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) CTCAGCCCAGGGGCCGGCAGA 0.647000 13 20 0 0 0.002450 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060247 35060247 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:35060247G>A ENST00000373913.3 + 3 607 c.127G>A c.(127-129)Gag>Aag p.E43K DLGAP4_ENST00000401952.2_Missense_Mutation_p.E43K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E43K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E43K Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 43 cell-cell signaling membrane protein binding p.E43K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CTTCGCCCGCGAGGCCCGCTT 0.687000 16 26 0 0 0.004990 0 0 MYH1 4619 broad.mit.edu 37 17 10419600 10419600 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:10419600G>A ENST00000226207.5 - 4 358 c.264C>T c.(262-264)atC>atT p.I88I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 88 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCATGTCCTCGATCTTGTCAT 0.478000 50 55 0 0 0.003610 0 0 OR13C3 138803 broad.mit.edu 37 9 107298193 107298193 + Missense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:107298193T>A ENST00000374781.2 - 1 944 c.902A>T c.(901-903)gAa>gTa p.E301V NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TTGCAATTTTTCTTCCCCAAT 0.403000 40 22 0 0 0.006999 0 0 EPHA7 2045 broad.mit.edu 37 6 93956522 93956522 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:93956522C>T ENST00000369303.4 - 15 2898 c.2714G>A c.(2713-2715)gGa>gAa p.G905E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 905 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) ACTACAAGTTCCCAGGGGAGT 0.403000 23 62 0 0 0.006320 0 0 CFHR5 81494 broad.mit.edu 37 1 196967406 196967406 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:196967406G>A ENST00000367414.5 + 7 1247 c.1191G>A c.(1189-1191)ggG>ggA p.G397G CFHR5_ENST00000256785.4_Silent_p.G373G NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 373 Sushi 7. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GTATAAACGGGAAATGGAATC 0.323000 13 57 0 0 0.003163 0 0 GPR98 84059 broad.mit.edu 37 5 89949605 89949605 + Missense_Mutation SNP C C T rs41305898 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:89949605C>T ENST00000405460.2 + 20 4310 c.4214C>T c.(4213-4215)tCc>tTc p.S1405F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1405 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACCTTGGGTTCCAATGCTACA 0.378000 10 24 0 0 0.008291 0 0 TMEM196 256130 broad.mit.edu 37 7 19765245 19765245 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:19765245G>A ENST00000405844.1 - 3 1046 c.351C>T c.(349-351)ggC>ggT p.G117G TMEM196_ENST00000405764.3_Silent_p.G117G|TMEM196_ENST00000493519.1_Silent_p.G49G|TMEM196_ENST00000433641.1_Silent_p.G49G|TMEM196_ENST00000422233.1_Silent_p.G49G Q5HYL7 TM196_HUMAN transmembrane protein 196 123 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 AGAGAGTGCAGCCCCCGATCC 0.517000 22 95 0 0 0.002299 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900428 151900428 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:151900428G>A ENST00000393900.3 - 3 726 c.373C>T c.(373-375)Cga>Tga p.R125* CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Nonsense_Mutation_p.R125*|MAGEA12_ENST00000357916.4_Nonsense_Mutation_p.R125* NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 125 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTGGCTCGATACTTGAGG 0.498000 46 30 0 0 0.003610 0 0 TAAR2 9287 broad.mit.edu 37 6 132939139 132939139 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:132939139G>A ENST00000275191.2 - 1 178 c.71C>T c.(70-72)tCc>tTc p.S24F TAAR2_ENST00000367931.1_Missense_Mutation_p.S69F|TAAR2_ENST00000537809.1_Missense_Mutation_p.S24F NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 69 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CTTGAAGTAGGAAATGGAAAT 0.423000 21 40 0 0 0.001882 0 0 LRGUK 136332 broad.mit.edu 37 7 133812131 133812131 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:133812131C>T ENST00000285928.2 + 1 80 c.11C>T c.(10-12)tCc>tTc p.S4F LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 4 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 ATGGCGACCTCCGAGAGGGCT 0.612000 26 78 0 0 0.007291 0 0 NDRG2 57447 broad.mit.edu 37 14 21491038 21491038 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:21491038G>A ENST00000556147.1 - 3 1042 c.102C>T c.(100-102)ctC>ctT p.L34L NDRG2_ENST00000397847.2_Silent_p.L34L|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000397858.1_Silent_p.L34L|NDRG2_ENST00000397853.3_Silent_p.L34L|NDRG2_ENST00000555158.1_Intron|NDRG2_ENST00000403829.3_Intron|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000360463.3_Intron|NDRG2_ENST00000554143.1_Intron|NDRG2_ENST00000350792.3_Intron|NDRG2_ENST00000298687.5_Silent_p.L34L|NDRG2_ENST00000553503.1_Intron|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397851.2_Silent_p.L34L Q9UN36 NDRG2_HUMAN NDRG family member 2 34 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) CCTGGTCCAGGAGGATTCGGG 0.572000 7 16 0 0 0.004482 0 0 ERF 2077 broad.mit.edu 37 19 42753410 42753410 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:42753410G>A ENST00000222329.4 - 4 1011 c.854C>T c.(853-855)cCg>cTg p.P285L ERF_ENST00000440177.2_Missense_Mutation_p.P210L|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 285 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GGGGTACATCGGGCTCAGCGT 0.697000 13 16 0 0 0.001368 0 0 NUGGC 389643 broad.mit.edu 37 8 27925067 27925067 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:27925067G>A ENST00000413272.2 - 6 817 c.675C>T c.(673-675)atC>atT p.I225I NUGGC_ENST00000341513.6_Silent_p.I225I NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated TGGAGGTGGGGATCTTCCTTT 0.483000 7 15 0 0 0.001984 0 0 XKR6 286046 broad.mit.edu 37 8 10756149 10756149 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:10756149C>T ENST00000416569.2 - 3 1265 c.1239G>A c.(1237-1239)tgG>tgA p.W413* XKR6_ENST00000304437.2_Nonsense_Mutation_p.W134* NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 413 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGATCTCCTCCCACTTGGACA 0.488000 14 25 0 0 0.002450 0 0 KIN 22944 broad.mit.edu 37 10 7820848 7820848 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:7820848T>C ENST00000379562.3 - 5 558 c.511A>G c.(511-513)Aaa>Gaa p.K171E KIN_ENST00000543003.1_Missense_Mutation_p.K65E|KIN_ENST00000535925.1_Missense_Mutation_p.K171E O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 171 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 TCAATAAATTTGGCAGTTTTT 0.453000 73 87 0 0 0.003610 0 0 ADAM7 8756 broad.mit.edu 37 8 24346820 24346820 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:24346820G>A ENST00000175238.6 + 12 1323 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K ADAM7_ENST00000520720.1_Missense_Mutation_p.E186K|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E414K|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 414 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGATGAGGGTGAAGAGTGTGA 0.393000 9 31 0 0 0.006214 0 0 DPT 1805 broad.mit.edu 37 1 168698368 168698368 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:168698368C>T ENST00000367817.3 - 1 134 c.45G>A c.(43-45)atG>atA p.M15I NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 15 cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) GGCCCCAGGCCATGGTGACTA 0.512000 9 37 0 0 0.004482 0 0 LCE3D 84648 broad.mit.edu 37 1 152552221 152552221 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152552221C>T ENST00000368787.3 - 2 248 c.192G>A c.(190-192)cgG>cgA p.R64R NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 64 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GCCTCTGGCGCCGGCATCGGT 0.682000 79 94 0 0 0.003610 0 0 AQP9 366 broad.mit.edu 37 15 58467217 58467217 + Silent SNP G G A rs140673133 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:58467217G>A ENST00000219919.4 + 4 847 c.477G>A c.(475-477)gcG>gcA p.A159A ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.A94A|AQP9_ENST00000536493.1_Silent_p.A159A NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 159 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity p.A159A(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TATCTCTGGCGAACGCATTTG 0.418000 29 64 0 0 0.008361 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130769216 130769216 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:130769216G>A ENST00000509018.1 - 25 4086 c.3881C>T c.(3880-3882)tCc>tTc p.S1294F RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1302F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S1344F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1302F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1307F NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1294 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GGCCTGAGAGGAACACCGTTC 0.517000 19 22 0 0 0.008871 0 0 MROH2B 133558 broad.mit.edu 37 5 41004579 41004579 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:41004579G>A ENST00000399564.4 - 37 4513 c.4063C>T c.(4063-4065)Cac>Tac p.H1355Y MROH2B_ENST00000506092.2_Missense_Mutation_p.H910Y NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CGAGCTAGGTGATACAGGCCT 0.403000 16 55 0 0 0.004990 0 0 TLR7 51284 broad.mit.edu 37 X 12903932 12903932 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:12903932C>G ENST00000380659.3 + 3 444 c.305C>G c.(304-306)cCt>cGt p.P102R NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 102 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AACTGTGTACCTATTCCACTG 0.448000 6 77 0 0 0.001168 0 0 NLRP4 147945 broad.mit.edu 37 19 56369320 56369320 + Nonsense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:56369320T>A ENST00000301295.6 + 3 983 c.561T>A c.(559-561)taT>taA p.Y187* NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Y112*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Y187* NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 187 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) ACACGTTCTATTTCTGCTGCA 0.502000 48 91 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179610475 179610475 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179610475C>T ENST00000360870.5 - 46 16874 c.16652G>A c.(16651-16653)gGa>gAa p.G5551E TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9021 Ig-like 36. 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) GACTAATTTTCCATCTTTGTA 0.413000 54 27 0 0 0.003610 0 0 ZNF184 7738 broad.mit.edu 37 6 27419353 27419353 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:27419353C>T ENST00000211936.6 - 6 2269 c.1985G>A c.(1984-1986)cGa>cAa p.R662Q ZNF184_ENST00000377419.1_Missense_Mutation_p.R662Q NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 AGTGTGAATTCGTTGATGCTG 0.428000 25 116 0 0 0.005443 0 0 OR8B4 283162 broad.mit.edu 37 11 124294506 124294506 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:124294506C>T ENST00000356130.3 - 1 283 c.262G>A c.(262-264)Gaa>Aaa p.E88K NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ATGATACTTTCTGAAACAAAG 0.388000 21 18 0 0 0.001882 0 0 BCL11A 53335 broad.mit.edu 37 2 60688537 60688537 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:60688537C>T ENST00000335712.6 - 4 1737 c.1510G>A c.(1510-1512)Gag>Aag p.E504K BCL11A_ENST00000538214.1_Missense_Mutation_p.E470K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.E470K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E504K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E173K NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 504 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TCCGTCAGctcctcctcctcc 0.667000 T IGH@ B-CLL 86 47 0 0 0.003610 0 0 ZFHX3 463 broad.mit.edu 37 16 72827743 72827743 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:72827743C>T ENST00000268489.5 - 9 9510 c.8838G>A c.(8836-8838)caG>caA p.Q2946Q ZFHX3_ENST00000397992.5_Silent_p.Q2032Q NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2946 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAAAACGTTTCTGCCCAGGCC 0.527000 24 67 0 0 0.003330 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232539242 232539242 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:232539242G>A ENST00000366630.1 - 20 5250 c.4892C>T c.(4891-4893)cCc>cTc p.P1631L SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P687L|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1631L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1631 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TACACATAAGGGCAGCTCTTG 0.577000 29 104 0 0 0.005443 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256934 24256934 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:24256934G>A ENST00000538205.1 + 11 1268 c.721G>A c.(721-723)Gga>Aga p.G241R ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G320R|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G241R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 320 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TCGACGTGTGGGACTGGCAGC 0.398000 27 85 0 0 0.003271 0 0 DUSP27 92235 broad.mit.edu 37 1 167097729 167097729 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:167097729C>T ENST00000361200.2 + 6 3527 c.3361C>T c.(3361-3363)Cgg>Tgg p.R1121W DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121W|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121W Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1121 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTCCCAGTATCGGAGAAGCAC 0.517000 24 32 0 0 0.002780 0 0 GPX6 257202 broad.mit.edu 37 6 28473543 28473543 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:28473543G>A ENST00000361902.1 - 4 445 c.396C>T c.(394-396)ttC>ttT p.F132F GPX6_ENST00000474923.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 132 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CAAAGAGCTGGAAACTGGGGA 0.438000 26 119 0 0 0.005443 0 0 GJA8 2703 broad.mit.edu 37 1 147380211 147380211 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:147380211C>T ENST00000240986.4 + 2 182 c.129C>T c.(127-129)ttC>ttT p.F43F GJA8_ENST00000369235.1_Silent_p.F43F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 43 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGCAGAGTTCGTGTGGGGGG 0.592000 18 87 0 0 0.008871 0 0 BPTF 2186 broad.mit.edu 37 17 65955759 65955759 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:65955759C>T ENST00000321892.4 + 26 8468 c.8407C>T c.(8407-8409)Cct>Tct p.P2803S BPTF_ENST00000306378.6_Missense_Mutation_p.P2677S|BPTF_ENST00000335221.5_Missense_Mutation_p.P2660S|BPTF_ENST00000424123.3_Missense_Mutation_p.P2521S Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2803 Pro-rich. AP -> VL (in Ref. 1; BAA89208). 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) GACAccagctcctccagcccc 0.582000 15 21 0 0 0.002450 0 0 MS4A6E 245802 broad.mit.edu 37 11 60105285 60105285 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:60105285C>T ENST00000300182.4 + 2 284 c.219C>T c.(217-219)gtC>gtT p.V73V NM_139249.2 NP_640342.1 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 6E 73 integral to membrane receptor activity endometrium(2)|kidney(1)|lung(9)|stomach(1) 13 TCCTGTCTGTCAACCCGGCTG 0.458000 32 83 0 0 0.002096 0 0 SCN7A 6332 broad.mit.edu 37 2 167262489 167262489 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:167262489G>A ENST00000409855.1 - 25 4776 c.4650C>T c.(4648-4650)ttC>ttT p.F1550F NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1550 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 GTTTTGCCATGAAAAGAGGAG 0.438000 65 30 0 0 0.003610 0 0 VPS41 27072 broad.mit.edu 37 7 38783140 38783140 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:38783140G>A ENST00000310301.4 - 24 2038 c.1984C>T c.(1984-1986)Cga>Tga p.R662* VPS41_ENST00000395969.2_Nonsense_Mutation_p.R637* NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 662 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TTACCCATTCGGCCTTGGTGG 0.368000 74 37 0 0 0.003610 0 0 COL21A1 81578 broad.mit.edu 37 6 55922538 55922538 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:55922538C>T ENST00000244728.5 - 30 3188 c.2791G>A c.(2791-2793)Ggc>Agc p.G931S COL21A1_ENST00000370808.2_Missense_Mutation_p.G297S|COL21A1_ENST00000370819.1_Missense_Mutation_p.G928S|COL21A1_ENST00000535941.1_Missense_Mutation_p.G931S|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 931 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCTGGGGGGCCTGGTTGCCCT 0.512000 13 18 0 0 0.001855 0 0 PTAFR 5724 broad.mit.edu 37 1 28477200 28477200 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:28477200G>A ENST00000373857.3 - 2 967 c.333C>T c.(331-333)atC>atT p.I111I PTAFR_ENST00000539896.1_Silent_p.I111I|PTAFR_ENST00000305392.3_Silent_p.I111I NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 111 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GGTTATAAGTGATGACGCCCA 0.547000 27 60 0 0 0.004656 0 0 PLXDC1 57125 broad.mit.edu 37 17 37265218 37265218 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:37265218G>A ENST00000315392.4 - 4 619 c.408C>T c.(406-408)gtC>gtT p.V136V PLXDC1_ENST00000394316.2_Silent_p.V136V|PLXDC1_ENST00000539608.1_Silent_p.V63V|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.V96V NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 136 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CAAAGGACAAGACCACTCTCT 0.607000 12 30 0 0 0.000978 0 0 ITGAX 3687 broad.mit.edu 37 16 31383821 31383821 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:31383821C>T ENST00000268296.4 + 18 2404 c.2283C>T c.(2281-2283)ttC>ttT p.F761F ITGAX_ENST00000562522.1_Silent_p.F761F NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 761 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGAGATACTTCACGGCCTCCG 0.632000 19 32 0 0 0.007413 0 0 LGSN 51557 broad.mit.edu 37 6 63990434 63990434 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:63990434C>T ENST00000370658.5 - 5 634 c.601G>A c.(601-603)Gga>Aga p.G201R LGSN_ENST00000370657.4_Missense_Mutation_p.G341E NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 0 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) CCATTTTTTCCCAGTGATCGT 0.483000 22 75 0 0 0.001882 0 0 VWA7 80737 broad.mit.edu 37 6 31741213 31741213 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:31741213C>T ENST00000375686.3 - 6 960 c.721_splice c.e6-1 p.G241_splice VWA7_ENST00000447450.1_Splice_Site_p.G241_splice|VWA7_ENST00000375688.4_Splice_Site_p.G241_splice|VWA7_ENST00000467576.1_Intron NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 241 extracellular region GGCTACATTTCCCTGGGTTGG 0.597000 92 260 0 0 0.003610 0 0 SHANK1 50944 broad.mit.edu 37 19 51218955 51218955 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:51218955G>A ENST00000293441.1 - 3 510 c.492C>T c.(490-492)acC>acT p.T164T SHANK1_ENST00000391814.1_Silent_p.T164T|SHANK1_ENST00000359082.3_Silent_p.T164T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 164 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CATCCAGGTTGGTCTGTTTGT 0.547000 60 116 0 0 0.003610 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000456883.2_Silent_p.E1319E|GOLGA3_ENST00000450791.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTAGCCCTTCCAGTTCCT 0.587000 4 79 0 0 0.000248 0 0 APOB 338 broad.mit.edu 37 2 21250807 21250807 + Nonsense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:21250807T>A ENST00000233242.1 - 14 2087 c.1960A>T c.(1960-1962)Aaa>Taa p.K654* APOB_ENST00000399256.4_Nonsense_Mutation_p.K654* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 654 Vitellogenin. 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) CCTTCTATTTTGGCTGAGGCT 0.403000 360 170 0 0 0.003610 0 0 LYAR 55646 broad.mit.edu 37 4 4281220 4281220 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:4281220G>A ENST00000343470.4 - 6 623 c.383C>T c.(382-384)tCc>tTc p.S128F LYAR_ENST00000452476.1_Missense_Mutation_p.S128F NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 128 nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTCCAGAATGGATTCATTATG 0.343000 21 38 0 0 0.003330 0 0 TNIK 23043 broad.mit.edu 37 3 170884950 170884950 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:170884950C>T ENST00000436636.2 - 10 1227 c.883G>A c.(883-885)Gag>Aag p.E295K TNIK_ENST00000475336.1_Missense_Mutation_p.E295K|TNIK_ENST00000470834.1_Missense_Mutation_p.E295K|TNIK_ENST00000369326.5_Missense_Mutation_p.E295K|TNIK_ENST00000538048.1_Missense_Mutation_p.E295K|TNIK_ENST00000460047.1_Missense_Mutation_p.E295K|TNIK_ENST00000488470.1_Missense_Mutation_p.E295K|TNIK_ENST00000357327.5_Missense_Mutation_p.E295K|TNIK_ENST00000341852.6_Missense_Mutation_p.E295K|TNIK_ENST00000284483.8_Missense_Mutation_p.E295K NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 295 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ACCTGTCGCTCATTAGGTTGG 0.423000 10 15 0 0 0.008291 0 0 ZNF540 163255 broad.mit.edu 37 19 38103515 38103515 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38103515G>A ENST00000592533.1 + 5 1666 c.1334G>A c.(1333-1335)gGg>gAg p.G445E ZNF540_ENST00000316433.4_Missense_Mutation_p.G445E|ZNF540_ENST00000589117.1_Missense_Mutation_p.G413E|ZNF540_ENST00000343599.5_Missense_Mutation_p.G445E 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) AAGGAATGCGGGAAAGCCTTT 0.423000 18 39 0 0 0.006122 0 0 COL4A4 1286 broad.mit.edu 37 2 228012173 228012173 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:228012173C>T ENST00000396625.3 - 2 234 c.27G>A c.(25-27)atG>atA p.M9I COL4A4_ENST00000329662.7_Missense_Mutation_p.M9I NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 9 axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGAGCACCTCATTAGTACTA 0.428000 203 93 0 0 0.003610 0 0 ACSM4 341392 broad.mit.edu 37 12 7480885 7480885 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:7480885G>A ENST00000399422.4 + 13 1707 c.1659G>A c.(1657-1659)gtG>gtA p.V553V NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 553 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TCAATTAGGTGGAATTTGTTC 0.398000 3 6 0 0 0.004672 0 0 RP1 6101 broad.mit.edu 37 8 55537472 55537472 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:55537472G>A ENST00000220676.1 + 4 1178 c.1030G>A c.(1030-1032)Gaa>Aaa p.E344K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 344 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AATAAAAGAGGAAGAAACCAT 0.338000 17 24 0 0 0.004990 0 0 SEL1L2 80343 broad.mit.edu 37 20 13845827 13845827 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:13845827C>T ENST00000284951.5 - 17 1705 c.1631G>A c.(1630-1632)cGa>cAa p.R544Q SEL1L2_ENST00000378072.5_Missense_Mutation_p.E489K|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 544 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AATGGCAGCTCGATTCCATAG 0.428000 33 85 0 0 0.004878 0 0 LRRK2 120892 broad.mit.edu 37 12 40643657 40643657 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:40643657G>A ENST00000298910.7 + 8 926 c.868G>A c.(868-870)Gaa>Aaa p.E290K LRRK2_ENST00000343742.2_Missense_Mutation_p.E290K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 290 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.E290K(2) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGTATTAAACGAAGTCCATGA 0.388000 19 31 0 0 0.006122 0 0 MIA3 375056 broad.mit.edu 37 1 222826654 222826654 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:222826654G>C ENST00000344922.5 + 15 4319 c.4294G>C c.(4294-4296)Gat>Cat p.D1432H MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.D1432H|MIA3_ENST00000340535.7_Missense_Mutation_p.D310H NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1432 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AAATGATTCAGATGAATTAGC 0.413000 180 297 0 0 0.003610 0 0 TSPAN16 26526 broad.mit.edu 37 19 11422892 11422892 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:11422892G>A ENST00000316737.1 + 6 831 c.681G>A c.(679-681)gtG>gtA p.V227V CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Silent_p.V202V|TSPAN16_ENST00000590327.1_Silent_p.V227V NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 227 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 GAGCTGCAGTGATACAGGTAA 0.478000 9 19 0 0 0.006214 0 0 FLT1 2321 broad.mit.edu 37 13 29001438 29001438 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:29001438C>T ENST00000282397.4 - 10 1545 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K FLT1_ENST00000539099.1_Missense_Mutation_p.E432K|FLT1_ENST00000541932.1_Missense_Mutation_p.E432K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 432 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACGGCCTTTTCGTAAATCTGG 0.493000 12 12 0 0 0.001368 0 0 MAP10 54627 broad.mit.edu 37 1 232942560 232942560 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:232942560G>A ENST00000418460.1 + 1 1918 c.1791G>A c.(1789-1791)ggG>ggA p.G597G NM_019090.2 NP_061963.2 microtubule-associated protein 10 GTTCTGTGGGGGGATGTGAAA 0.418000 17 45 0 0 0.004990 0 0 LOC150776 150776 broad.mit.edu 37 2 132276718 132276718 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:132276718C>T ENST00000438378.2 + 0 2038 NR_026922.1 ACTCCTTCCTCTCATGGCTGG 0.597000 46 20 0 0 0.003610 0 0 SGCZ 137868 broad.mit.edu 37 8 13965683 13965683 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:13965683G>A ENST00000382080.1 - 6 1324 c.609C>T c.(607-609)tcC>tcT p.S203S SGCZ_ENST00000421524.2_Silent_p.S156S NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 190 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGAGATCTTGGGATGGCTCTG 0.438000 25 45 0 0 0.007291 0 0 CIT 11113 broad.mit.edu 37 12 120306862 120306862 + Splice_Site SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:120306862A>C ENST00000392521.2 - 3 294 c.e3+1 CIT_ENST00000261833.7_Splice_Site NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCCCAAACTTACACTTCCGGA 0.428000 39 89 0 0 0.006230 0 0 RFT1 91869 broad.mit.edu 37 3 53159945 53159945 + Silent SNP G G A rs148510042 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:53159945G>A ENST00000296292.3 - 2 190 c.129C>T c.(127-129)atC>atT p.I43I RFT1_ENST00000394738.3_Silent_p.I43I NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 43 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity p.I43I(1) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) CTACGCCAACGATTTCCTTTG 0.408000 13 30 0 0 0.001368 0 0 PDZD2 23037 broad.mit.edu 37 5 32010454 32010454 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:32010454C>T ENST00000438447.1 + 6 1661 c.1273C>T c.(1273-1275)Ctc>Ttc p.L425F PDZD2_ENST00000282493.3_Missense_Mutation_p.L425F O15018 PDZD2_HUMAN PDZ domain containing 2 425 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CGCAGAGGACCTCCTCAGGTT 0.512000 43 102 0 0 0.003610 0 0 GTF2B 2959 broad.mit.edu 37 1 89322963 89322963 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:89322963C>T ENST00000370500.5 - 6 861 c.743G>A c.(742-744)aGg>aAg p.R248K GTF2B_ENST00000494819.1_5'UTR NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 248 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding p.R248M(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) GATGGGGCTCCTCCCAGGAAC 0.507000 30 51 0 0 0.007291 0 0 PLCD4 84812 broad.mit.edu 37 2 219487534 219487534 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:219487534G>A ENST00000450993.2 + 6 1044 c.705G>A c.(703-705)caG>caA p.Q235Q PLCD4_ENST00000417849.1_Silent_p.Q235Q|PLCD4_ENST00000432688.1_Silent_p.Q235Q NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 235 EF-hand 3. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AAGAGGAGCAGAAGGAGAGAG 0.483000 92 31 0 0 0.003610 0 0 KIF21B 23046 broad.mit.edu 37 1 200960078 200960078 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:200960078G>A ENST00000332129.2 - 18 2970 c.2654C>T c.(2653-2655)cCt>cTt p.P885L KIF21B_ENST00000422435.2_Missense_Mutation_p.P885L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P885L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P885L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 885 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGTGGGCGCAGGATGGTCCCC 0.637000 64 91 0 0 0.003610 0 0 KRT5 3852 broad.mit.edu 37 12 52910428 52910428 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:52910428C>T ENST00000252242.4 - 7 1822 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 478 Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CACCTGCATTCCTCGCCCTCC 0.557000 20 39 0 0 0.001882 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121698913 121698913 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:121698913C>T ENST00000393386.2 + 28 6999 c.6588C>T c.(6586-6588)agC>agT p.S2196S PTPRZ1_ENST00000449182.1_Silent_p.S1329S NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2196 Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATCCAGATAGCCCCATTAGTA 0.358000 12 48 0 0 0.001855 0 0 IGHA1 3493 broad.mit.edu 37 14 106173759 106173759 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:106173759C>T ENST00000390547.2 - 0 807 CGGGGCAGCTCCTGTGACCCC 0.672000 25 15 0 0 0.008361 0 0 TBC1D5 9779 broad.mit.edu 37 3 17202628 17202628 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:17202628G>A ENST00000253692.7 - 22 3879 c.2215C>T c.(2215-2217)Cgc>Tgc p.R739C TBC1D5_ENST00000429383.4_Missense_Mutation_p.R739C|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.R761C NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 739 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 CTGAGGGTGCGAAGAGGCTGG 0.582000 13 45 0 0 0.001368 0 0 PKP2 5318 broad.mit.edu 37 12 32996245 32996245 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:32996245G>A ENST00000070846.6 - 6 1405 c.1381C>T c.(1381-1383)Cat>Tat p.H461Y PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 461 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TTGACTGTATGGTCTGTACAA 0.532000 21 53 0 0 0.001882 0 0 RPH3A 22895 broad.mit.edu 37 12 113334571 113334571 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:113334571G>A ENST00000389385.4 + 22 2568 c.2071G>A c.(2071-2073)Gtg>Atg p.V691M RPH3A_ENST00000551052.1_Missense_Mutation_p.V687M|RPH3A_ENST00000548866.1_Missense_Mutation_p.V642M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V691M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V642M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V691M|RPH3A_ENST00000420983.2_Missense_Mutation_p.V691M|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 691 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGAGAACCACGTGTCAAGTGA 0.537000 13 35 0 0 0.001368 0 0 MC3R 4159 broad.mit.edu 37 20 54824259 54824259 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:54824259C>T ENST00000243911.2 + 1 472 c.360C>T c.(358-360)ttC>ttT p.F120F NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 157 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) ACAACATCTTCGACTCCATGA 0.552000 20 82 0 0 0.001882 0 0 FCRL6 343413 broad.mit.edu 37 1 159785397 159785397 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:159785397G>A ENST00000368106.3 + 10 1252 c.1251G>A c.(1249-1251)atG>atA p.M417I FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR NM_001004310.2 NP_001004310.2 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 417 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) AGGTGAATATGAGAAGCAGGA 0.537000 28 97 0 0 0.006320 0 0 SETD1A 9739 broad.mit.edu 37 16 30980955 30980955 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:30980955T>G ENST00000262519.8 + 12 3647 c.2961T>G c.(2959-2961)gaT>gaG p.D987E NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 987 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 ATGAGGAAGATGAAGATCGAG 0.507000 9 25 0 0 0.004482 0 0 ARMC4 55130 broad.mit.edu 37 10 28225792 28225792 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:28225792T>G ENST00000305242.5 - 15 2207 c.2115A>C c.(2113-2115)gaA>gaC p.E705D ARMC4_ENST00000545014.1_Missense_Mutation_p.E230D|ARMC4_ENST00000537576.1_Missense_Mutation_p.E397D NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 705 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGTCCCGGGTTTCCTTATCTT 0.478000 24 24 0 0 0.003330 0 0 KCNC2 3747 broad.mit.edu 37 12 75445023 75445023 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:75445023G>A ENST00000549446.1 - 3 1442 c.762C>T c.(760-762)ttC>ttT p.F254F KCNC2_ENST00000298972.1_Silent_p.F254F|KCNC2_ENST00000393288.2_Silent_p.F254F|KCNC2_ENST00000550433.1_Silent_p.F254F|KCNC2_ENST00000341669.3_Silent_p.F254F|KCNC2_ENST00000540018.1_Silent_p.F254F|KCNC2_ENST00000350228.2_Silent_p.F254F|KCNC2_ENST00000548513.1_Silent_p.F254F NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 254 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TAACAATATTGAAAGCTTCAT 0.343000 12 16 0 0 0.000978 0 0 OR10K1 391109 broad.mit.edu 37 1 158435387 158435387 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:158435387C>T ENST00000289451.2 + 1 116 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TGAGAGAGTTCGTCGTCCTCG 0.512000 23 60 0 0 0.002780 0 0 ZNF215 7762 broad.mit.edu 37 11 6977185 6977185 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:6977185C>T ENST00000278319.5 + 7 1565 c.977C>T c.(976-978)cCt>cTt p.P326L ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.P326L|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 326 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) GTGGGAATTCCTTCAAGAAAG 0.308000 25 56 0 0 0.005443 0 0 DYSF 8291 broad.mit.edu 37 2 71896816 71896816 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:71896816G>A ENST00000258104.3 + 50 5884 c.5607G>A c.(5605-5607)tgG>tgA p.W1869* DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1886*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W1877*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1887*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1891*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1908*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1900*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1901*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1907*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1870*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1890* NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1869 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACTTCAACTGGAGGTTCATTT 0.488000 59 32 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9085985 9085985 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9085985C>T ENST00000397910.4 - 1 6033 c.5830G>A c.(5830-5832)Gaa>Aaa p.E1944K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1944 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 ATGACTTCTTCCACTGGAATG 0.493000 23 44 0 0 0.002780 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:140481411C>T ENST00000288602.6 - 11 1457 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 466 Protein kinase. G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(15)|p.G466E(5)|p.G466A(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378000 G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 32 70 0 0 0.002096 0 0 C1orf173 127254 broad.mit.edu 37 1 75107095 75107095 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:75107095G>A ENST00000326665.5 - 5 582 c.364C>T c.(364-366)Ccc>Tcc p.P122S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 122 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 GGTGGGTGGGGAGACAGGATT 0.418000 20 42 0 0 0.008871 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143858 142143858 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:142143858C>T ENST00000390373.2 - 0 137 ATTCATGGTTCATATCCTGGG 0.502000 29 69 0 0 0.002096 0 0 PLCB1 23236 broad.mit.edu 37 20 8698405 8698405 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:8698405G>A ENST00000378641.3 + 14 1898 c.1423G>A c.(1423-1425)Gaa>Aaa p.E475K PLCB1_ENST00000338037.6_Missense_Mutation_p.E475K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E475K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 475 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CAAGTCATCAGAAGGAAGCGG 0.453000 30 53 0 0 0.007291 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272198 43272198 + Silent SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:43272198G>T ENST00000263246.3 - 10 1494 c.1293C>A c.(1291-1293)gtC>gtA p.V431V PACSIN2_ENST00000402229.1_Silent_p.V431V|PACSIN2_ENST00000403744.3_Silent_p.V431V|PACSIN2_ENST00000407585.1_Silent_p.V390V|PACSIN2_ENST00000337959.4_Silent_p.V390V|PACSIN2_ENST00000496919.1_5'UTR NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 431 SH3. actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) ACAGGGCCCGGACTCGCACTT 0.607000 15 44 2.39187e-15 2.88211e-15 0.008871 1 0 NELFA 7469 broad.mit.edu 37 4 2010584 2010584 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:2010584C>T ENST00000382882.3 - 1 1253 c.136G>A c.(136-138)Gcc>Acc p.A46T NELFA_ENST00000411638.1_Missense_Mutation_p.A35T|NELFA_ENST00000542778.1_5'UTR NM_005663.4 NP_005654.3 negative elongation factor complex member A ATGACCGCGGCCGTGAGCAGG 0.682000 7 17 0 0 0.001984 0 0 ERV3-1 2086 broad.mit.edu 37 7 64453074 64453074 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:64453074G>A ENST00000394323.2 - 2 831 c.331C>T c.(331-333)Ccc>Tcc p.P111S NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 111 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 ttgccagagggaaataccttg 0.443000 16 22 0 0 0.006122 0 0 ARID3B 10620 broad.mit.edu 37 15 74887993 74887993 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:74887993G>A ENST00000346246.5 + 9 1792 c.1561G>A c.(1561-1563)Ggg>Agg p.G521R NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCTCATCACGGGGTCTGCTCC 0.642000 13 31 0 0 0.004990 0 0 ABHD4 63874 broad.mit.edu 37 14 23072519 23072519 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:23072519T>C ENST00000428304.2 + 3 407 c.337T>C c.(337-339)Ttc>Ctc p.F113L ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 113 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) AAGGCCAGCATTCCCAAGGGA 0.612000 17 34 0 0 0.006122 0 0 STAT2 6773 broad.mit.edu 37 12 56737284 56737284 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:56737284G>A ENST00000314128.4 - 24 2468 c.2445C>T c.(2443-2445)atC>atT p.I815I STAT2_ENST00000557235.1_Silent_p.I811I|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 815 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CATTCGGCATGATTTCTTCAA 0.512000 11 40 0 0 0.001855 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920542 51920542 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:51920542G>A ENST00000353836.5 - 2 436 c.215C>T c.(214-216)cCt>cTt p.P72L SIGLEC10_ENST00000432469.2_Missense_Mutation_p.P72L|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.P72L|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P72L|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.P72L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.P72L|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.P72L|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P72L|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.P72L NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 72 Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TGTGGCCACAGGAGCACCCTT 0.592000 22 53 0 0 0.001882 0 0 PTPN9 5780 broad.mit.edu 37 15 75815515 75815515 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:75815515G>A ENST00000306726.2 - 4 881 c.369C>T c.(367-369)gtC>gtT p.V123V NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 123 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCACATGTTGGACTGACTTGT 0.418000 19 34 0 0 0.006122 0 0 DSN1 79980 broad.mit.edu 37 20 35399459 35399459 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:35399459T>C ENST00000426836.1 - 3 544 c.172A>G c.(172-174)Agc>Ggc p.S58G DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.S58G|DSN1_ENST00000448110.1_Missense_Mutation_p.S42G|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.S58G NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 58 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) TTTTTAGGGCTAGAGCCAAGG 0.448000 66 128 0 0 0.003610 0 0 GPR31 2853 broad.mit.edu 37 6 167571071 167571071 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:167571071G>A ENST00000366834.1 - 1 746 c.249C>T c.(247-249)ggC>ggT p.G83G NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 83 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGCCCACACGGCCCAGATGCC 0.672000 10 15 0 0 0.006214 0 0 SVEP1 79987 broad.mit.edu 37 9 113169251 113169251 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:113169251C>T ENST00000401783.2 - 38 8965 c.8629G>A c.(8629-8631)Gga>Aga p.G2877R SVEP1_ENST00000374469.1_Missense_Mutation_p.G2854R|SVEP1_ENST00000297826.5_Missense_Mutation_p.G803R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2877 Sushi 24. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCCAACTTCCATTGGCAAGA 0.537000 19 22 0 0 0.007413 0 0 ZNF749 388567 broad.mit.edu 37 19 57955356 57955356 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:57955356A>G ENST00000334181.4 + 3 1090 c.840A>G c.(838-840)tcA>tcG p.S280S AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 280 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) GCTTTCTTTCAAAAAGGTCTG 0.448000 24 46 0 0 0.003330 0 0 TBX20 57057 broad.mit.edu 37 7 35244178 35244178 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:35244178G>A ENST00000408931.3 - 7 1433 c.907C>T c.(907-909)Ctg>Ttg p.L303L NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 303 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TTTTGAATCAGGCTCTCCACA 0.453000 15 52 0 0 0.006122 0 0 WDR16 146845 broad.mit.edu 37 17 9515711 9515711 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:9515711A>C ENST00000352665.5 + 8 1009 c.940A>C c.(940-942)Att>Ctt p.I314L WDR16_ENST00000299764.5_Missense_Mutation_p.I324L|WDR16_ENST00000396219.3_Missense_Mutation_p.I246L NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 314 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 AGAATCGCACATTTATCGTGT 0.443000 27 28 0 0 0.004656 0 0 COL4A1 1282 broad.mit.edu 37 13 110845251 110845251 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:110845251C>T ENST00000375820.4 - 23 1512 c.1391G>A c.(1390-1392)gGa>gAa p.G464E COL4A1_ENST00000543140.1_Missense_Mutation_p.G464E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 464 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCAACTCTCTCCTTTTTGACC 0.498000 22 25 0 0 0.003330 0 0 ABCG1 9619 broad.mit.edu 37 21 43704787 43704787 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:43704787C>T ENST00000398437.1 + 8 1438 c.1290C>T c.(1288-1290)ttC>ttT p.F430F ABCG1_ENST00000361802.2_Silent_p.F284F|ABCG1_ENST00000398449.3_Silent_p.F284F|ABCG1_ENST00000340588.4_Silent_p.F392F|ABCG1_ENST00000347800.2_Silent_p.F281F|ABCG1_ENST00000343687.3_Silent_p.F295F|ABCG1_ENST00000398457.2_Silent_p.F286F|ABCG1_ENST00000462050.1_3'UTR P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 284 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TCGAGCTGTTCGACCAGGTAC 0.612000 24 76 0 0 0.004656 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217918 150217918 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150217918G>A ENST00000313543.4 + 2 1013 c.856G>A c.(856-858)Gaa>Aaa p.E286K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 286 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATGCTTTCAGAAATATGGCA 0.249000 8 29 0 0 0.008291 0 0 ANKLE1 126549 broad.mit.edu 37 19 17397289 17397289 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:17397289C>T ENST00000598347.1 + 8 1561 c.1559C>T c.(1558-1560)aCc>aTc p.T520I ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000404085.1_Silent_p.H588H|ANKLE1_ENST00000594072.1_Silent_p.H555H|ANKLE1_ENST00000394458.3_Silent_p.H592H NM_001278444.1 NP_001265373.1 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 554 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 ACCTGCTGCACCGTGCCCTCC 0.662000 14 16 0 0 0.001855 0 0 TFCP2 7024 broad.mit.edu 37 12 51512486 51512486 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:51512486G>A ENST00000307660.4 - 2 912 c.192C>T c.(190-192)atC>atT p.I64I TFCP2_ENST00000257915.5_Silent_p.I64I|TFCP2_ENST00000549867.1_Silent_p.I64I|TFCP2_ENST00000548115.1_Silent_p.I64I NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 64 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GAAAAGGCAGGATTTTATTCT 0.383000 24 58 0 0 0.003330 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3683845 3683845 + Splice_Site SNP G G A rs143886579 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:3683845G>A ENST00000344754.4 - 5 1226 c.1228_splice c.e5+1 p.N409_splice SIGLEC1_ENST00000202578.4_Splice_Site_p.N409_splice NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 409 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 GCCTCTTACGGTTGACTACCA 0.612000 15 27 0 0 0.006122 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586370 106586370 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:106586370G>A ENST00000390602.2 - 0 194 GCACAGGAGAGTCTCAGGGAC 0.552000 36 41 0 0 0.006999 0 0 SLFN13 146857 broad.mit.edu 37 17 33767881 33767881 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:33767881A>C ENST00000285013.6 - 6 2702 c.2427T>G c.(2425-2427)gtT>gtG p.V809V SLFN13_ENST00000526861.1_Silent_p.V809V|SLFN13_ENST00000542635.1_Silent_p.V809V|SLFN13_ENST00000534689.1_Silent_p.V491V|SLFN13_ENST00000533791.1_Silent_p.V809V|SLFN13_ENST00000360502.2_Silent_p.V491V NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 809 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CAAGCACAGCAACATCCTTTG 0.443000 34 50 0 0 0.005524 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438184 204438184 + Missense_Mutation SNP C C A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:204438184C>A ENST00000367187.3 - 3 1303 c.747G>T c.(745-747)ttG>ttT p.L249F PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L249F NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 249 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGGCATCCCGCAACATCTCCG 0.577000 93 380 3.98749e-38 4.81349e-38 0.003610 1 0 DMGDH 29958 broad.mit.edu 37 5 78338173 78338173 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:78338173G>A ENST00000255189.3 - 7 1154 c.1126C>T c.(1126-1128)Cct>Tct p.P376S DMGDH_ENST00000380311.4_Missense_Mutation_p.P175S|DMGDH_ENST00000540686.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 376 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) AGAATGTCAGGAGAATACGTG 0.438000 20 21 0 0 0.008871 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092819 147092819 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:147092819G>A ENST00000361727.3 + 10 2133 c.1617G>A c.(1615-1617)agG>agA p.R539R NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 539 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGCACAAAGGAAGCCGGGAA 0.433000 HNSCC(39;0.1) 41 92 0 0 0.002222 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228813 57228813 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:57228813G>A ENST00000396721.2 - 2 224 c.94C>T c.(94-96)Cca>Tca p.P32S SDR16C5_ENST00000303749.3_Missense_Mutation_p.P32S|SDR16C5_ENST00000522671.1_Missense_Mutation_p.P32S Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 32 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 CGTGGCTTTGGGAGTAAGGCA 0.463000 25 34 0 0 0.004656 0 0 COL11A1 1301 broad.mit.edu 37 1 103471818 103471818 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:103471818C>T ENST00000358392.2 - 16 2090 c.1773_splice c.e16+1 p.R591_splice COL11A1_ENST00000512756.1_Splice_Site_p.R463_splice|COL11A1_ENST00000353414.4_Splice_Site_p.R540_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Splice_Site_p.R579_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 579 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TAAGCCATACCCTTTTTCCAG 0.353000 25 67 0 0 0.002096 0 0 COL7A1 1294 broad.mit.edu 37 3 48626092 48626092 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:48626092G>A ENST00000328333.8 - 19 2677 c.2570C>T c.(2569-2571)tCc>tTc p.S857F COL7A1_ENST00000454817.1_Missense_Mutation_p.S857F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 857 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GACAACAATGGAGACAGGTGT 0.582000 15 29 0 0 0.003163 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101782 46101782 + Missense_Mutation SNP C C T rs138110019 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:46101782C>T ENST00000391617.1 - 1 296 c.257G>A c.(256-258)aGa>aAa p.R86K TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 86 14 X 5 AA approximate repeats. keratin filament p.R86K(1) kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGAGATGGGTCTGCAGAGGAC 0.637000 21 48 0 0 0.002299 0 0 OR10K2 391107 broad.mit.edu 37 1 158389833 158389833 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:158389833G>A ENST00000314902.2 - 1 823 c.824C>T c.(823-825)tCa>tTa p.S275L NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GTAGGATACTGATATTAGAGC 0.383000 60 97 0 0 0.003610 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704261 117704261 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:117704261C>T ENST00000355044.3 + 29 4237 c.4111C>T c.(4111-4113)Ctt>Ttt p.L1371F ATRNL1_ENST00000423111.2_Missense_Mutation_p.L422F|ATRNL1_ENST00000303745.7_Missense_Mutation_p.L164F NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1371 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCGAAAACACCTTTCAACACG 0.428000 37 30 0 0 0.008740 0 0 SYVN1 84447 broad.mit.edu 37 11 64897317 64897317 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:64897317C>T ENST00000526060.1 - 14 1668 c.1476G>A c.(1474-1476)gaG>gaA p.E492E SYVN1_ENST00000307289.6_Silent_p.E441E|SYVN1_ENST00000377190.3_Silent_p.E493E|SYVN1_ENST00000294256.8_Silent_p.E492E Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 493 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GCTCATGGCCCTCCAGAGCTC 0.657000 15 32 0 0 0.004990 0 0 TXNIP 10628 broad.mit.edu 37 1 145438945 145438945 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:145438945C>T ENST00000369317.4 + 1 477 c.143C>T c.(142-144)gCt>gTt p.A48V TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 48 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGGATCCTGGCTTGCGGAGTG 0.547000 38 66 0 0 0.007835 0 0 CHP2 63928 broad.mit.edu 37 16 23767750 23767750 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:23767750T>G ENST00000300113.2 + 5 817 c.394T>G c.(394-396)Tcc>Gcc p.S132A NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 132 EF-hand 3. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) TGGGAAGATCTCCAGGCATGA 0.542000 11 15 0 0 0.008291 0 0 CFHR5 81494 broad.mit.edu 37 1 196953238 196953238 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:196953238G>A ENST00000367414.5 + 3 529 c.473G>A c.(472-474)tGg>tAg p.W158* CFHR5_ENST00000256785.4_Nonsense_Mutation_p.W134* NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 134 Sushi 3. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GAACGGGGCTGGTCCACTCCT 0.353000 8 75 0 0 0.004482 0 0 ACTN2 88 broad.mit.edu 37 1 236898939 236898939 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:236898939C>T ENST00000366578.4 + 8 868 c.702C>T c.(700-702)atC>atT p.I234I ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Intron NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 234 Actin-binding.|CH 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTTCAGACATCGTGAACACCC 0.527000 11 67 0 0 0.001368 0 0 CNOT1 23019 broad.mit.edu 37 16 58570932 58570932 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:58570932G>A ENST00000317147.5 - 39 5939 c.5607C>T c.(5605-5607)ggC>ggT p.G1869G CNOT1_ENST00000569240.1_Silent_p.G1864G|CNOT1_ENST00000245138.4_Silent_p.G720G NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1869 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TACTGTCGCGGCCAGCTGCTG 0.483000 35 58 0 0 0.006230 0 0 OR51I2 390064 broad.mit.edu 37 11 5474840 5474840 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5474840G>A ENST00000341449.2 + 1 203 c.122G>A c.(121-123)gGa>gAa p.G41E HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCCTTGGGGGAAATACAGTG 0.572000 17 34 0 0 0.004990 0 0 RBM15B 29890 broad.mit.edu 37 3 51430285 51430285 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:51430285C>T ENST00000323686.4 + 1 1555 c.1455C>T c.(1453-1455)ctC>ctT p.L485L NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 485 RRM 3. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACCGCAGGCTCCGCGTGGATT 0.572000 20 58 0 0 0.001523 0 0 GJA5 2702 broad.mit.edu 37 1 147231250 147231250 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:147231250G>A ENST00000271348.2 - 2 258 c.97C>T c.(97-99)Cgt>Tgt p.R33C GJA5_ENST00000369237.1_Missense_Mutation_p.R33C NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 33 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane p.R33C(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) ACGAGCATACGGAATATGAAG 0.547000 39 63 0 0 0.006999 0 0 TNR 7143 broad.mit.edu 37 1 175355281 175355281 + Missense_Mutation SNP G G A rs138742753 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:175355281G>A ENST00000367674.1 - 8 2372 c.1664C>T c.(1663-1665)cCc>cTc p.P555L TNR_ENST00000263525.2_Missense_Mutation_p.P555L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 555 Fibronectin type-III 3. 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) TTGGCTCAGGGGAGGCTGCAG 0.607000 13 75 0 0 0.002450 0 0 GRK7 131890 broad.mit.edu 37 3 141499223 141499223 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:141499223C>T ENST00000264952.2 + 2 757 c.620C>T c.(619-621)gCc>gTc p.A207V NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 207 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 AAGGTATGTGCCGTCCAGGTG 0.458000 11 8 0 0 0.000978 0 0 RASA3 22821 broad.mit.edu 37 13 114751155 114751155 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:114751155A>G ENST00000334062.7 - 23 2481 c.2360T>C c.(2359-2361)gTt>gCt p.V787A RASA3_ENST00000389544.4_Missense_Mutation_p.V755A NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 787 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CAAAGCCCCAACCCCAGCGAT 0.557000 63 47 0 0 0.003610 0 0 LYZL6 57151 broad.mit.edu 37 17 34263826 34263826 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:34263826G>A ENST00000585556.1 - 4 644 c.310C>T c.(310-312)Ccc>Tcc p.P104S LYZL6_ENST00000293274.4_Missense_Mutation_p.P104S|LYZL6_ENST00000394523.3_Missense_Mutation_p.P104S O75951 LYZL6_HUMAN lysozyme-like 6 104 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAAGGTTGGGATTCAGCAGA 0.572000 36 65 0 0 0.008740 0 0 IGHG1 3500 broad.mit.edu 37 14 106208272 106208272 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:106208272C>T ENST00000390548.2 - 0 627 GCTGGGAGGGCTTTGTTGGAG 0.617000 104 144 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55539350 55539350 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:55539350G>A ENST00000220676.1 + 4 3056 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 970 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTTGTTATGGAAAGTAATAA 0.328000 24 55 0 0 0.002780 0 0 CGREF1 10669 broad.mit.edu 37 2 27324160 27324160 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:27324160C>T ENST00000402394.1 - 6 1207 c.939G>A c.(937-939)gtG>gtA p.V313V CGREF1_ENST00000312734.4_Silent_p.V313V|CGREF1_ENST00000405600.1_Silent_p.V313V|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Silent_p.V296V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Silent_p.V435V NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 296 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCATTCTCCACTTGAACAA 0.502000 121 68 0 0 0.003610 0 0 C2orf16 84226 broad.mit.edu 37 2 27801308 27801308 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:27801308A>C ENST00000408964.2 + 1 1920 c.1869A>C c.(1867-1869)gaA>gaC p.E623D NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 623 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TAGCCCTAGAATCAGGAATTG 0.423000 34 21 0 0 0.003271 0 0 NRAP 4892 broad.mit.edu 37 10 115388709 115388709 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:115388709T>G ENST00000369358.4 - 20 2380 c.2136A>C c.(2134-2136)gaA>gaC p.E712D NRAP_ENST00000360478.3_Missense_Mutation_p.E669D|NRAP_ENST00000359988.3_Missense_Mutation_p.E704D|NRAP_ENST00000369360.3_Missense_Mutation_p.E677D Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 704 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCTTGGCTTGTTCCAAGTTGA 0.547000 21 18 0 0 0.001882 0 0 MYO15A 51168 broad.mit.edu 37 17 18023148 18023148 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:18023148C>T ENST00000205890.5 + 2 1372 c.1034C>T c.(1033-1035)cCc>cTc p.P345L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 345 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TACCTGGATCCCTATGCGCCG 0.592000 25 28 0 0 0.006320 0 0 ZNF540 163255 broad.mit.edu 37 19 38103018 38103018 + Silent SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38103018T>G ENST00000592533.1 + 5 1169 c.837T>G c.(835-837)ggT>ggG p.G279G ZNF540_ENST00000316433.4_Silent_p.G279G|ZNF540_ENST00000589117.1_Silent_p.G247G|ZNF540_ENST00000343599.5_Silent_p.G279G 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) GTGATAAGGGTTTTTTTAGTA 0.299000 21 31 0 0 0.001882 0 0 CNTN5 53942 broad.mit.edu 37 11 100170010 100170010 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:100170010C>T ENST00000524871.1 + 20 2792 c.2502C>T c.(2500-2502)ttC>ttT p.F834F CNTN5_ENST00000279463.3_Silent_p.F834F|CNTN5_ENST00000418526.2_Silent_p.F760F|CNTN5_ENST00000528682.1_Silent_p.F834F|CNTN5_ENST00000527185.1_Silent_p.F834F|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 834 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTCCAAATTCATTTATCGAG 0.428000 17 50 0 0 0.007413 0 0 TBL3 10607 broad.mit.edu 37 16 2025693 2025693 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:2025693C>T ENST00000568546.1 + 10 1097 c.969C>T c.(967-969)tcC>tcT p.S323S NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 323 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 AGGCTCGCTCCCTGCGGCTGC 0.667000 14 29 0 0 0.004990 0 0 OR10X1 128367 broad.mit.edu 37 1 158549611 158549611 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:158549611C>T ENST00000368150.1 - 1 78 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E27K(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGAATGAATTCCTTCAGGATT 0.363000 35 169 0 0 0.003271 0 0 SMARCE1 6605 broad.mit.edu 37 17 38792324 38792324 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:38792324G>A ENST00000348513.6 - 7 1180 c.400C>T c.(400-402)Cat>Tat p.H134Y SMARCE1_ENST00000580419.1_Missense_Mutation_p.H99Y|SMARCE1_ENST00000431889.2_Missense_Mutation_p.H116Y|SMARCE1_ENST00000544009.1_Missense_Mutation_p.H64Y|SMARCE1_ENST00000400122.3_Missense_Mutation_p.H64Y|SMARCE1_ENST00000377808.4_Missense_Mutation_p.H99Y|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_Missense_Mutation_p.H64Y NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 134 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) GGGGAATTATGATAGGCCTTC 0.373000 20 69 0 0 0.003330 0 0 TMEM87A 25963 broad.mit.edu 37 15 42519037 42519037 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:42519037A>T ENST00000389834.4 - 15 1634 c.1370T>A c.(1369-1371)aTg>aAg p.M457K RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.M396K NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 457 integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) CCAGAGAACCATGATGACAAA 0.483000 50 120 0 0 0.003610 0 0 KRT24 192666 broad.mit.edu 37 17 38855755 38855755 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:38855755G>A ENST00000264651.2 - 6 1358 c.1302C>T c.(1300-1302)atC>atT p.I434I NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 434 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) GGCGTGTCTTGATGTCCAGCA 0.507000 51 113 0 0 0.003610 0 0 DERL2 51009 broad.mit.edu 37 17 5388504 5388504 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:5388504G>A ENST00000158771.4 - 2 181 c.126C>T c.(124-126)taC>taT p.Y42Y DERL2_ENST00000572834.1_Silent_p.Y42Y|DERL2_ENST00000571968.1_5'UTR|DERL2_ENST00000570848.1_Silent_p.Y42Y NM_016041.3 NP_057125.2 Q9GZP9 DERL2_HUMAN derlin 2 42 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 CAGGATTGAAGTACAACTGAA 0.294000 11 21 0 0 0.001368 0 0 LRGUK 136332 broad.mit.edu 37 7 133812132 133812132 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:133812132C>T ENST00000285928.2 + 1 81 c.12C>T c.(10-12)tcC>tcT p.S4S LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 4 ATP binding|kinase activity p.S4S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TGGCGACCTCCGAGAGGGCTC 0.612000 25 77 0 0 0.008361 0 0 LRFN3 79414 broad.mit.edu 37 19 36435786 36435786 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:36435786C>T ENST00000588831.1 + 4 2806 c.1752C>T c.(1750-1752)tcC>tcT p.S584S LRFN3_ENST00000246529.3_Silent_p.S584S Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 584 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCGTTTGCTCCCAGACCAAcg 0.711000 10 13 0 0 0.008291 0 0 STAB2 55576 broad.mit.edu 37 12 104060106 104060106 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:104060106G>A ENST00000388887.2 + 19 2264 c.2060G>A c.(2059-2061)aGa>aAa p.R687K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 687 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TACTGGAGCAGATGTCCTGCT 0.552000 25 61 0 0 0.008361 0 0 CALCR 799 broad.mit.edu 37 7 93098045 93098045 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:93098045C>T ENST00000359558.2 - 8 856 c.557G>A c.(556-558)gGg>gAg p.G186E CALCR_ENST00000360249.4_Missense_Mutation_p.G168E|CALCR_ENST00000421592.1_Missense_Mutation_p.G168E|CALCR_ENST00000426151.1_Missense_Mutation_p.G168E|CALCR_ENST00000394441.1_Missense_Mutation_p.G168E NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 168 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) CACGAAAATCCCCAGGGAAAT 0.383000 38 46 0 0 0.008740 0 0 FRAS1 80144 broad.mit.edu 37 4 79442682 79442682 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:79442682C>T ENST00000264895.6 + 68 10986 c.10546C>T c.(10546-10548)Cag>Tag p.Q3516* NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3511 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCCAGGAATCCAGACAGACAG 0.458000 11 35 0 0 0.001855 0 0 KDM2B 84678 broad.mit.edu 37 12 121878938 121878938 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:121878938G>A ENST00000377069.4 - 19 3582 c.3176C>T c.(3175-3177)tCc>tTc p.S1059F KDM2B_ENST00000377071.4_Missense_Mutation_p.S1128F|KDM2B_ENST00000542973.1_Missense_Mutation_p.S496F|KDM2B_ENST00000536437.1_Intron NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1128 F-box. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGGTCGAGGGAGACGGGCTG 0.607000 15 23 0 0 0.004007 0 0 ZNF322 79692 broad.mit.edu 37 6 26638664 26638664 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:26638664C>T ENST00000415922.2 - 4 763 c.118G>A c.(118-120)Ggt>Agt p.G40S ZNF322_ENST00000471278.1_Missense_Mutation_p.G40S NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding TATATATGACCATCTATCTGA 0.338000 66 316 0 0 0.003610 0 0 OR2F1 26211 broad.mit.edu 37 7 143657714 143657714 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143657714C>T ENST00000392899.1 + 1 688 c.651C>T c.(649-651)tcC>tcT p.S217S NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TTCTTTTGTCCTACATCCAGA 0.502000 41 71 0 0 0.002222 0 0 ROBO2 6092 broad.mit.edu 37 3 77542460 77542460 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:77542460C>T ENST00000461745.1 + 5 1633 c.733C>T c.(733-735)Cgt>Tgt p.R245C ROBO2_ENST00000487694.3_Missense_Mutation_p.R261C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R245C NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 245 Ig-like C2-type 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.R245C(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGTAGAATTTCGTTGTCAAGT 0.418000 22 42 0 0 0.001882 0 0 MACF1 23499 broad.mit.edu 37 1 39797305 39797305 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:39797305C>T ENST00000564288.1 + 37 5822 c.5045C>T c.(5044-5046)tCt>tTt p.S1682F MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S122F|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S1687F|MACF1_ENST00000567887.1_Missense_Mutation_p.S1719F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1687 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCCTCATTTCTGCATGGCTT 0.418000 31 55 0 0 0.007291 0 0 SLC5A4 6527 broad.mit.edu 37 22 32631037 32631037 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:32631037G>A ENST00000266086.4 - 8 719 c.708C>T c.(706-708)taC>taT p.Y236Y RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 236 carbohydrate transport|sodium ion transport integral to membrane symporter activity p.Y236*(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGCATTCACGTACTTCTCGG 0.468000 53 97 0 0 0.003610 0 0 LARP4 113251 broad.mit.edu 37 12 50860828 50860828 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:50860828T>C ENST00000398473.2 + 13 1582 c.1470T>C c.(1468-1470)agT>agC p.S490S LARP4_ENST00000347328.5_Silent_p.S419S|LARP4_ENST00000429001.3_Silent_p.S496S|LARP4_ENST00000293618.8_Silent_p.S419S|LARP4_ENST00000518444.1_Silent_p.S489S NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 490 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 TACCTGGAAGTTCATCAAGAA 0.393000 21 44 0 0 0.002299 0 0 OR2B3 442184 broad.mit.edu 37 6 29054298 29054298 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:29054298G>A ENST00000377173.2 - 1 792 c.728C>T c.(727-729)tCc>tTc p.S243F NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 AATCATGTGGGACCCACATGT 0.453000 23 22 0 0 0.001882 0 0 BLOC1S5 63915 broad.mit.edu 37 6 8064587 8064587 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:8064587G>C ENST00000397457.2 - 1 60 c.23C>G c.(22-24)aCc>aGc p.T8S EEF1E1-MUTED_ENST00000397456.2_Intron|BLOC1S5_ENST00000543936.1_5'UTR NM_001199323.1|NM_201280.2 NP_001186252.1|NP_958437.1 biogenesis of lysosomal organelles complex-1, subunit 5, muted ACCCACAGGGGTCTCTGTCCC 0.692000 6 54 0 0 0.004482 0 0 CCDC141 285025 broad.mit.edu 37 2 179714852 179714852 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179714852A>C ENST00000420890.2 - 21 3398 c.3281T>G c.(3280-3282)gTg>gGg p.V1094G CCDC141_ENST00000295723.5_Missense_Mutation_p.V519G NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 519 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GTGTTTTGTCACTATTTTCTC 0.368000 36 29 0 0 0.006999 0 0 MYO18B 84700 broad.mit.edu 37 22 26294333 26294333 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:26294333G>A ENST00000335473.7 + 29 4978 c.4728G>A c.(4726-4728)agG>agA p.R1576R CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000407587.2_Silent_p.R1577R|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Silent_p.R1576R|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1576 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AACTGAAGAGGAAGTGCCACC 0.493000 26 59 0 0 0.004656 0 0 GPRC6A 222545 broad.mit.edu 37 6 117150141 117150141 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:117150141C>T ENST00000310357.3 - 1 57 c.36G>A c.(34-36)gtG>gtA p.V12V GPRC6A_ENST00000368549.3_Silent_p.V12V|GPRC6A_ENST00000530250.1_Silent_p.V12V NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 12 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CAAGAATAATCACAAAGCAGG 0.418000 9 29 0 0 0.004482 0 0 OBSCN 84033 broad.mit.edu 37 1 228505631 228505631 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:228505631C>T ENST00000570156.2 + 64 16833 c.16759C>T c.(16759-16761)Cct>Tct p.P5587S OBSCN_ENST00000284548.11_Missense_Mutation_p.P4630S|OBSCN_ENST00000366709.4_Missense_Mutation_p.P1749S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P4630S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2264S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4630 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCCTCAGCCCCTGAGAGCCG 0.632000 28 42 0 0 0.003755 0 0 ZNF334 55713 broad.mit.edu 37 20 45131369 45131369 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:45131369C>T ENST00000457685.2 - 6 1818 c.495G>A c.(493-495)caG>caA p.Q165Q ZNF334_ENST00000593880.1_Silent_p.Q226Q|ZNF334_ENST00000347606.4_Silent_p.Q203Q Q9HCZ1 ZN334_HUMAN zinc finger protein 334 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GTTTCAAAATCTGAATGTTCT 0.363000 34 63 0 0 0.006230 0 0 TLN2 83660 broad.mit.edu 37 15 63000709 63000709 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:63000709C>T ENST00000561311.1 + 20 2411 c.2181C>T c.(2179-2181)agC>agT p.S727S TLN2_ENST00000306829.6_Silent_p.S727S Q9Y4G6 TLN2_HUMAN talin 2 727 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGGTTGTGAGCCCCACTATTA 0.597000 25 63 0 0 0.005443 0 0 NBN 4683 broad.mit.edu 37 8 90965699 90965699 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:90965699G>A ENST00000265433.3 - 11 1772 c.1618C>T c.(1618-1620)Cat>Tat p.H540Y NBN_ENST00000409330.1_Missense_Mutation_p.H458Y NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 540 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) TCTGCAGCATGAGATTTACTG 0.348000 Homologous recombination 40 92 0 0 0.004878 0 0 POLR2F 5435 broad.mit.edu 37 22 38421635 38421635 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:38421635G>A ENST00000405557.1 + 5 420 c.343G>A c.(343-345)Gcc>Acc p.A115T POLR2F_ENST00000407936.1_Intron P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 0 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) ctacgcactggcccacagcct 0.562000 4 13 0 0 0.000248 0 0 SYNE1 23345 broad.mit.edu 37 6 152712529 152712529 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:152712529C>T ENST00000367255.5 - 52 8488 c.7887G>A c.(7885-7887)ctG>ctA p.L2629L SYNE1_ENST00000448038.1_Silent_p.L2636L|SYNE1_ENST00000423061.1_Silent_p.L2636L|SYNE1_ENST00000265368.4_Silent_p.L2629L|SYNE1_ENST00000341594.5_Silent_p.L2668L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2629 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGCTTCCTCCAGGGCTTCGT 0.562000 HNSCC(10;0.0054) 21 32 0 0 0.001523 0 0 ZNF883 169834 broad.mit.edu 37 9 115760332 115760332 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:115760332C>T ENST00000427548.1 - 0 1481 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCATTACATTCATAAGGTTTC 0.358000 13 13 0 0 0.001368 0 0 DUSP27 92235 broad.mit.edu 37 1 167096589 167096589 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:167096589G>A ENST00000361200.2 + 6 2387 c.2221G>A c.(2221-2223)Gaa>Aaa p.E741K DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E741K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E741K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 741 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAAGCAAAATGAAATGCTGCT 0.537000 34 62 0 0 0.006230 0 0 SNUPN 10073 broad.mit.edu 37 15 75890927 75890927 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:75890927G>A ENST00000564644.1 - 10 1433 c.855C>T c.(853-855)gtC>gtT p.V285V SNUPN_ENST00000308588.5_Silent_p.V285V|SNUPN_ENST00000371091.5_Silent_p.V327V|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564675.1_Silent_p.V285V|SNUPN_ENST00000567134.1_Silent_p.V285V O95149 SPN1_HUMAN snurportin 1 285 Necessary for binding to the m3G-cap structure. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 CTACACCAAGGACATCTGACA 0.572000 76 188 0 0 0.003610 0 0 GPATCH4 54865 broad.mit.edu 37 1 156566271 156566271 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:156566271C>T ENST00000368232.4 - 6 466 c.e6-1 GPATCH4_ENST00000497287.1_Splice_Site|GPATCH4_ENST00000438976.2_Splice_Site NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATGTAGCCATCTAGGAGGGGT 0.507000 75 118 0 0 0.003610 0 0 SYNE1 23345 broad.mit.edu 37 6 152456295 152456295 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:152456295G>A ENST00000367255.5 - 142 26333 c.25732C>T c.(25732-25734)Cct>Tct p.P8578S SYNE1_ENST00000539504.1_Missense_Mutation_p.P733S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8530S|SYNE1_ENST00000354674.4_Missense_Mutation_p.P756S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P3102S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8530S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8578S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P8190S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8578 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAATCAATAGGGACAATTTCA 0.393000 HNSCC(10;0.0054) 27 30 0 0 0.004656 0 0 TAOK2 9344 broad.mit.edu 37 16 29992969 29992969 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:29992969C>T ENST00000416441.2 + 1 1297 c.124C>T c.(124-126)Cct>Tct p.P42S TAOK2_ENST00000308893.4_Intron|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron Q9UL54 TAOK2_HUMAN TAO kinase 2 0 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TTCCCTTTCACCTTTTTCTGT 0.502000 20 30 0 0 0.008871 0 0 RYR1 6261 broad.mit.edu 37 19 38976836 38976836 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38976836C>T ENST00000355481.4 + 34 5672 c.5541C>T c.(5539-5541)acC>acT p.T1847T RYR1_ENST00000359596.3_Silent_p.T1847T|RYR1_ENST00000360985.3_Silent_p.T1847T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1847 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) TCGTGTCCACCCTGCTGGTAA 0.582000 69 190 0 0 0.003610 0 0 JADE1 79960 broad.mit.edu 37 4 129764136 129764136 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:129764136C>T ENST00000226319.6 + 3 361 c.81C>T c.(79-81)tcC>tcT p.S27S PHF17_ENST00000511647.1_Silent_p.S27S|PHF17_ENST00000512960.1_Silent_p.S27S|PHF17_ENST00000413543.2_Silent_p.S27S|PHF17_ENST00000452328.2_Silent_p.S27S NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 27 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CCCAGAATTCCCGATCCCAGC 0.448000 26 57 0 0 0.005443 0 0 LAMB3 3914 broad.mit.edu 37 1 209791870 209791870 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:209791870C>T ENST00000391911.1 - 18 3225 c.2836G>A c.(2836-2838)Gac>Aac p.D946N LAMB3_ENST00000367030.3_Missense_Mutation_p.D946N|LAMB3_ENST00000356082.4_Missense_Mutation_p.D946N NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 946 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGCACCAAGTCCACGTTGGGG 0.617000 48 84 0 0 0.003610 0 0 ZNF182 7569 broad.mit.edu 37 X 47836115 47836115 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:47836115G>A ENST00000396965.1 - 7 1721 c.1371C>T c.(1369-1371)ccC>ccT p.P457P ZNF182_ENST00000376943.3_Silent_p.P438P|ZNF182_ENST00000305127.6_Silent_p.P457P NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TACATTCAAAGGGTTTCTCTC 0.423000 26 12 0 0 0.006320 0 0 WDR62 284403 broad.mit.edu 37 19 36562584 36562584 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:36562584C>T ENST00000401500.2 + 8 1044 c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.L337F|WDR62_ENST00000270301.7_Missense_Mutation_p.L337F NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 337 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCACACTACCTTGGGGTAGA 0.617000 14 28 0 0 0.004007 0 0 IL17RB 55540 broad.mit.edu 37 3 53890992 53890992 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:53890992C>T ENST00000288167.3 + 7 660 c.651C>T c.(649-651)atC>atT p.I217I NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 217 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) GCACTATCATCGGGTTTTCTC 0.463000 57 115 0 0 0.003610 0 0 RANBP17 64901 broad.mit.edu 37 5 170640706 170640706 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:170640706C>T ENST00000523189.1 + 21 2467 c.2303C>T c.(2302-2304)cCc>cTc p.P768L RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 768 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGTACAACTCCCATCTTGAAA 0.418000 T TRD@ ALL 101 78 0 0 0.003610 0 0 MTFR1 9650 broad.mit.edu 37 8 66594616 66594616 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:66594616C>T ENST00000262146.4 + 3 221 c.95C>T c.(94-96)tCg>tTg p.S32L MTFR1_ENST00000458689.2_Intron|MTFR1_ENST00000517944.1_3'UTR NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 32 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) CCATATGGTTCGTCTCGAAGT 0.333000 13 36 0 0 0.004990 0 0 OR5AU1 390445 broad.mit.edu 37 14 21624050 21624050 + Silent SNP G G A rs143241393 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:21624050G>A ENST00000304418.3 - 1 172 c.135C>T c.(133-135)atC>atT p.I45I NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGTGCTCTGCGATGGAGAAAG 0.527000 41 66 0 0 0.008740 0 0 CCDC60 160777 broad.mit.edu 37 12 119866561 119866561 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:119866561G>A ENST00000327554.2 + 2 629 c.164G>A c.(163-165)cGa>cAa p.R55Q CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 55 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GACCTTATACGAAGCCGGTGA 0.478000 7 19 0 0 0.001984 0 0 ZNF236 7776 broad.mit.edu 37 18 74649199 74649199 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:74649199C>T ENST00000253159.8 + 26 4874 c.4676C>T c.(4675-4677)tCg>tTg p.S1559L ZNF236_ENST00000320610.9_Missense_Mutation_p.S1561L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1559 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) ATGTCCTCGTCGGGCGTGGGA 0.547000 37 42 0 0 0.005524 0 0 SULT4A1 25830 broad.mit.edu 37 22 44234753 44234753 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:44234753C>T ENST00000330884.4 - 4 622 c.502G>A c.(502-504)Gat>Aat p.D168N SULT4A1_ENST00000249130.5_Missense_Mutation_p.D168N|SULT4A1_ENST00000540422.1_Intron NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 168 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) TCACGCTTATCATTCATAAAC 0.572000 8 38 0 0 0.004482 0 0 HTR2C 3358 broad.mit.edu 37 X 114141517 114141517 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:114141517G>A ENST00000276198.1 + 6 1644 c.916G>A c.(916-918)Gaa>Aaa p.E306K HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.E306K NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 306 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TATCAACAATGAAAGAAAAGC 0.443000 40 32 0 0 0.006999 0 0 EP400 57634 broad.mit.edu 37 12 132522320 132522320 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:132522320C>T ENST00000333577.4 + 32 6262 c.6153C>T c.(6151-6153)tcC>tcT p.S2051S EP400_ENST00000330386.6_Silent_p.S1934S|EP400_ENST00000389561.2_Silent_p.S2015S|EP400_ENST00000389562.2_Silent_p.S2014S|EP400_ENST00000332482.4_Silent_p.S1978S Q96L91 EP400_HUMAN E1A binding protein p400 2051 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ATGACTACTCCATGGCTTTCT 0.473000 8 36 0 0 0.003080 0 0 TDRD6 221400 broad.mit.edu 37 6 46657732 46657732 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:46657732A>T ENST00000544460.1 + 1 2121 c.1867A>T c.(1867-1869)Act>Tct p.T623S TDRD6_ENST00000316081.6_Missense_Mutation_p.T623S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 623 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTTTAAAAAGACTGTGCTCCA 0.398000 9 14 0 0 0.004482 0 0 CELSR1 9620 broad.mit.edu 37 22 46930693 46930693 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:46930693G>A ENST00000262738.3 - 1 2374 c.2375C>T c.(2374-2376)tCc>tTc p.S792F CELSR1_ENST00000395964.1_Missense_Mutation_p.S792F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 792 Cadherin 6. 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) TGTGTAATGGGAGCTCTGAAA 0.582000 21 22 0 0 0.001523 0 0 KRT78 196374 broad.mit.edu 37 12 53238393 53238393 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:53238393C>T ENST00000359499.4 - 5 552 c.541G>A c.(541-543)Gag>Aag p.E181K KRT78_ENST00000304620.4_Missense_Mutation_p.E291K Q8N1N4 K2C78_HUMAN keratin 78 291 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity p.E291*(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CGGGCGATCTCCTCGTACCGG 0.622000 10 49 0 0 0.006214 0 0 OR4E2 26686 broad.mit.edu 37 14 22133482 22133482 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:22133482C>T ENST00000408935.1 + 1 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TGTATTTCTTCCTGAGCAATC 0.423000 92 223 0 0 0.003610 0 0 OR2G6 391211 broad.mit.edu 37 1 248685747 248685747 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:248685747C>T ENST00000343414.4 + 1 832 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATAGGAGATCCAAAAACCAG 0.443000 29 119 0 0 0.002445 0 0 MIR518C 574477 broad.mit.edu 37 19 54212022 54212022 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:54212022G>A ENST00000384822.1 + 0 34 NR_030199.1 TCTCTGGAGGGAAGCACTTTC 0.403000 13 29 0 0 0.002450 0 0 SLC9A8 23315 broad.mit.edu 37 20 48481306 48481306 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:48481306C>T ENST00000417961.1 + 10 1141 c.931C>T c.(931-933)Cct>Tct p.P311S SLC9A8_ENST00000361573.2_Missense_Mutation_p.P295S|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.P76S NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 295 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GAGGAAAACGCCTTCCTTGGA 0.448000 16 64 0 0 0.004990 0 0 TRIM58 25893 broad.mit.edu 37 1 248031151 248031151 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:248031151T>G ENST00000366481.3 + 4 800 c.752T>G c.(751-753)gTg>gGg p.V251G NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 251 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTTCAGGGTGTGAGAGGAGTC 0.468000 32 54 0 0 0.003271 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141013 143141013 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143141013C>T ENST00000332690.1 + 1 468 c.468C>T c.(466-468)acC>acT p.T156T EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 156 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GCTTCACCACCATTCTATTTT 0.473000 69 105 0 0 0.003610 0 0 OR4D11 219986 broad.mit.edu 37 11 59271645 59271645 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:59271645G>A ENST00000313253.1 + 1 597 c.597G>A c.(595-597)atG>atA p.M199I NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 AGTTCTTGATGATTTCCAACA 0.498000 51 102 0 0 0.003610 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129810956 129810956 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:129810956G>A ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA CAGAACCTGAGGACCCAGACA 0.637000 6 6 0 0 0.001984 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265588 22265588 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:22265588G>A ENST00000390430.2 + 0 130 CCACAGCTCAGCCATGCTCCT 0.493000 6 19 0 0 0.001168 0 0 MYB 4602 broad.mit.edu 37 6 135521527 135521527 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:135521527C>T ENST00000341911.5 + 13 2123 c.1924C>T c.(1924-1926)Ccc>Tcc p.P642S MYB_ENST00000527615.1_Missense_Mutation_p.P521S|MYB_ENST00000442647.2_Missense_Mutation_p.P518S|MYB_ENST00000534044.1_Missense_Mutation_p.P521S|MYB_ENST00000316528.8_Missense_Mutation_p.P521S|MYB_ENST00000528774.1_Missense_Mutation_p.P639S|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Missense_Mutation_p.P521S|MYB_ENST00000534121.1_Missense_Mutation_p.P626S|MYB_ENST00000525369.1_Missense_Mutation_p.P436S|MYB_ENST00000533624.1_Missense_Mutation_p.P486S NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 538 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AAATGGACCACCCTTACTGAA 0.443000 T NFIB adenoid cystic carcinoma 7 22 0 0 0.003080 0 0 SMG5 23381 broad.mit.edu 37 1 156235791 156235791 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:156235791A>G ENST00000361813.5 - 12 1780 c.1636T>C c.(1636-1638)Tca>Cca p.S546P SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 546 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GGAGCCTCTGATCTGCCCCGA 0.577000 10 64 0 0 0.001368 0 0 RANBP17 64901 broad.mit.edu 37 5 170610355 170610355 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:170610355T>G ENST00000523189.1 + 18 2123 c.1959T>G c.(1957-1959)agT>agG p.S653R RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 653 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTGGCATCAGTGACAATCATA 0.388000 T TRD@ ALL 21 40 0 0 0.003330 0 0 UGT2B28 54490 broad.mit.edu 37 4 70148315 70148315 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:70148315C>T ENST00000335568.5 + 2 807 c.805C>T c.(805-807)Cca>Tca p.P269S UGT2B28_ENST00000511240.1_Missense_Mutation_p.P269S NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 269 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTTCCTCATCCATTCTTACC 0.408000 55 124 0 0 0.003610 0 0 LCE3D 84648 broad.mit.edu 37 1 152552341 152552341 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152552341C>T ENST00000368787.3 - 2 128 c.72G>A c.(70-72)aaG>aaA p.K24K NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 24 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GTACTGGGCTCTTTGGGGGAC 0.617000 62 90 0 0 0.003610 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976420 47976420 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:47976420G>A ENST00000543600.1 - 2 845 c.806C>T c.(805-807)aCc>aTc p.T269I PTCHD4_ENST00000339488.4_Missense_Mutation_p.T286I Q6ZW05 CF138_HUMAN patched domain containing 4 286 SSD. integral to membrane hedgehog receptor activity CTTTCCATCGGTGATGAAGAA 0.537000 8 13 0 0 0.006214 0 0 BTBD1 53339 broad.mit.edu 37 15 83699002 83699002 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:83699002C>T ENST00000261721.4 - 5 1143 c.941G>A c.(940-942)cGa>cAa p.R314Q RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R314Q|RP11-382A20.5_ENST00000566841.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 314 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) GTATTCAACTCGGGGTTTAGG 0.448000 67 127 0 0 0.003610 0 0 GMPPB 29925 broad.mit.edu 37 3 49759379 49759379 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:49759379G>A ENST00000308375.6 - 8 1194 c.970C>T c.(970-972)Ctg>Ttg p.L324L GMPPB_ENST00000480687.1_Intron|AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000308388.6_Intron Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 317 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCCCCACCCAGCCCAGCCCAC 0.657000 19 40 0 0 0.008871 0 0 MFSD3 113655 broad.mit.edu 37 8 145736175 145736175 + Splice_Site SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:145736175A>C ENST00000301327.4 + 4 1215 c.e4-1 NM_138431.1 NP_612440.1 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 3 transmembrane transport integral to membrane central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGCCCTCCCAGGGTCAGCCT 0.632000 21 29 0 0 0.008871 0 0 SLC36A2 153201 broad.mit.edu 37 5 150718687 150718687 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:150718687G>A ENST00000335244.4 - 5 588 c.459C>T c.(457-459)ttC>ttT p.F153F SLC36A2_ENST00000521967.1_Silent_p.F153F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 153 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGATAATAAGGAAGAAGCTCA 0.403000 32 35 0 0 0.003271 0 0 NLRP3 114548 broad.mit.edu 37 1 247587615 247587615 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:247587615C>T ENST00000366497.2 + 4 1650 c.870C>T c.(868-870)atC>atT p.I290I NLRP3_ENST00000348069.2_Silent_p.I290I|NLRP3_ENST00000391828.3_Silent_p.I290I|NLRP3_ENST00000366496.2_Silent_p.I290I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.I290I|NLRP3_ENST00000391827.2_Silent_p.I290I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 290 NACHT. 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) TCCACAAGATCGTGAGAAAAC 0.562000 32 93 0 0 0.008361 0 0 SMG8 55181 broad.mit.edu 37 17 57290928 57290928 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:57290928C>T ENST00000543872.2 + 4 3008 c.2744C>T c.(2743-2745)cCt>cTt p.P915L SMG8_ENST00000300917.5_Missense_Mutation_p.P915L|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 915 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GTTGTGGTTCCTGATGCTCCT 0.393000 45 110 0 0 0.003610 0 0 ITGA10 8515 broad.mit.edu 37 1 145541455 145541455 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:145541455C>T ENST00000369304.3 + 28 3418 c.3243C>T c.(3241-3243)tcC>tcT p.S1081S ITGA10_ENST00000539363.1_Silent_p.S938S|ITGA10_ENST00000538811.1_Silent_p.S950S NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 1081 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGTTCAAGTCCCTGACGGTGG 0.502000 11 21 0 0 0.000978 0 0 GBX1 2636 broad.mit.edu 37 7 150864110 150864110 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150864110G>A ENST00000297537.4 - 1 525 c.526C>T c.(526-528)Cca>Tca p.P176S GBX1_ENST00000475831.1_5'UTR NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 176 Pro-rich. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCAGACTTGGAAAAGTCTCT 0.652000 28 76 0 0 0.001786 0 0 CDH6 1004 broad.mit.edu 37 5 31299719 31299719 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:31299719C>T ENST00000265071.2 + 5 1057 c.792C>T c.(790-792)aaC>aaT p.N264N CDH6_ENST00000514738.1_Silent_p.N209N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 264 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCAACGACAACCCTCCCCGAT 0.428000 30 29 0 0 0.004289 0 0 NR2F1 7025 broad.mit.edu 37 5 92929449 92929449 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:92929449C>T ENST00000327111.3 + 3 2860 c.1173C>T c.(1171-1173)gtC>gtT p.V391V NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 391 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TCTTCTTCGTCCGTTTGGTAG 0.567000 64 42 0 0 0.003610 0 0 LAMB2 3913 broad.mit.edu 37 3 49159424 49159424 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:49159424G>C ENST00000418109.1 - 30 5040 c.4876C>G c.(4876-4878)Cgg>Ggg p.R1626G LAMB2_ENST00000305544.4_Missense_Mutation_p.R1626G NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1626 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACTGCCCCCCGGATGGCACCC 0.607000 36 63 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179585223 179585223 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179585223C>T ENST00000589042.1 - 80 23490 c.23266G>A c.(23266-23268)Gat>Aat p.D7756N TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7439N|TTN_ENST00000342992.6_Missense_Mutation_p.D6512N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7439 Ig-like 59. 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) AGACTTGTATCAAAATGTTTT 0.393000 53 25 0 0 0.003610 0 0 MSRB3 253827 broad.mit.edu 37 12 65847548 65847548 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:65847548C>T ENST00000308259.5 + 6 607 c.333C>T c.(331-333)atC>atT p.I111I MSRB3_ENST00000355192.3_Silent_p.I118I|MSRB3_ENST00000535664.1_Silent_p.I111I|MSRB3_ENST00000540804.1_Silent_p.I118I NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 118 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) CTGAGGCAATCACATTCACAG 0.468000 28 75 0 0 0.002445 0 0 NICN1 84276 broad.mit.edu 37 3 49466624 49466624 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:49466624G>A ENST00000273598.3 - 1 135 c.49C>T c.(49-51)Cag>Tag p.Q17* NICN1_ENST00000436744.2_Nonsense_Mutation_p.Q17*|NICN1_ENST00000422593.1_5'UTR NM_032316.3 NP_115692.1 Q9BSH3 NICN1_HUMAN nicolin 1 17 microtubule|nucleus kidney(1)|large_intestine(3)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGCCCACCTGGAGGGCTACG 0.657000 15 21 0 0 0.004990 0 0 SNHG1 23642 broad.mit.edu 37 11 62622506 62622506 + RNA SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:62622506T>C ENST00000363981.1 - 0 49 NR_002563.1 TAAGATGACATCACTTGAAAG 0.393000 28 73 0 0 0.001786 0 0 VPS41 27072 broad.mit.edu 37 7 38783141 38783141 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:38783141G>A ENST00000310301.4 - 24 2037 c.1981_splice c.e24-1 p.S661_splice VPS41_ENST00000395969.2_Splice_Site_p.S636_splice NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 661 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TACCCATTCGGCCTTGGTGGG 0.368000 71 36 0 0 0.003610 0 0 SYNE1 23345 broad.mit.edu 37 6 152784511 152784511 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:152784511C>T ENST00000367255.5 - 19 2675 c.2074G>A c.(2074-2076)Gag>Aag p.E692K SYNE1_ENST00000367248.3_Missense_Mutation_p.E682K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E259K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E692K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E692K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E699K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E692K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E699K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E692K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E699K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 692 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATAAACAACTCCCTCCACCGC 0.413000 HNSCC(10;0.0054) 27 104 0 0 0.006320 0 0 MTHFSD 64779 broad.mit.edu 37 16 86575369 86575369 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:86575369G>A ENST00000322911.6 - 7 662 c.612C>T c.(610-612)ctC>ctT p.L204L MTHFSD_ENST00000381214.5_Silent_p.L205L|MTHFSD_ENST00000543303.2_Silent_p.L204L|MTHFSD_ENST00000546093.1_Silent_p.L42L|MTHFSD_ENST00000360900.6_Silent_p.L205L NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 205 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 TGGTTGGAGTGAGGATGTAGT 0.582000 29 60 0 0 0.005443 0 0 MLXIP 22877 broad.mit.edu 37 12 122616872 122616872 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:122616872C>T ENST00000319080.6 + 8 1166 c.1034C>T c.(1033-1035)tCc>tTc p.S345F Q9HAP2 MLXIP_HUMAN MLX interacting protein 345 Transactivation domain. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ATTTTTGGCTCCATGCTACCT 0.552000 5 13 0 0 0.003080 0 0 OR2A12 346525 broad.mit.edu 37 7 143793082 143793082 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143793082A>C ENST00000408949.2 + 1 942 c.882A>C c.(880-882)gcA>gcC p.A294A NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TTAGGAATGCAGAGGTGAAAG 0.458000 86 164 0 0 0.003610 0 0 LAMA5 3911 broad.mit.edu 37 20 60889937 60889937 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:60889937A>C ENST00000252999.3 - 60 8180 c.8114T>G c.(8113-8115)gTg>gGg p.V2705G NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2705 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCGTTGTGCACCCCACGGTT 0.672000 36 69 0 0 0.003271 0 0 ATAD3C 219293 broad.mit.edu 37 1 1389841 1389841 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:1389841C>T ENST00000378785.2 + 4 1334 c.339C>T c.(337-339)tcC>tcT p.S113S NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 113 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 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) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGAGACGTCCCGCATCACGG 0.667000 9 22 0 0 0.006214 0 0 CACNA1C 775 broad.mit.edu 37 12 2693758 2693758 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:2693758G>A ENST00000399655.1 + 16 2579 c.2314G>A c.(2314-2316)Gag>Aag p.E772K CACNA1C_ENST00000399603.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E772K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E772K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E772K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E797K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E772K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E772K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E772K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E772K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 772 Poly-Glu. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ggaggaagaggagaaggagag 0.542000 18 47 0 0 0.007413 0 0 GJA5 2702 broad.mit.edu 37 1 147231251 147231251 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:147231251G>A ENST00000271348.2 - 2 257 c.96C>T c.(94-96)ttC>ttT p.F32F GJA5_ENST00000369237.1_Silent_p.F32F NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 32 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CGAGCATACGGAATATGAAGA 0.552000 40 63 0 0 0.007835 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438522 25438522 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:25438522C>T ENST00000424208.1 + 0 1381 SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.512000 91 196 0 0 0.003610 0 0 RELN 5649 broad.mit.edu 37 7 103205751 103205751 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:103205751G>A ENST00000424685.2 - 34 5343 c.5184C>T c.(5182-5184)atC>atT p.I1728I RELN_ENST00000343529.5_Silent_p.I1728I|RELN_ENST00000428762.1_Silent_p.I1728I P78509 RELN_HUMAN reelin 1728 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 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) GGTAGACAGTGATCCGCTTCC 0.433000 32 66 0 0 0.004878 0 0 SLC6A5 9152 broad.mit.edu 37 11 20622786 20622786 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:20622786G>A ENST00000525748.1 + 2 388 c.115G>A c.(115-117)Gag>Aag p.E39K NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 39 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CCCGGAGCAGGAGCTTCCCGC 0.721000 4 16 0 0 0.000248 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220344458 220344458 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:220344458G>A ENST00000358951.2 - 24 2698 c.2582C>T c.(2581-2583)tCc>tTc p.S861F NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 861 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) AACTGTTTGGGAAAACTAATA 0.408000 25 57 0 0 0.003330 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409412 56409412 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:56409412C>T ENST00000544374.1 - 1 535 c.507G>A c.(505-507)atG>atA p.M169I OR5AP2_ENST00000302981.1_Missense_Mutation_p.M168I Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 ACCTAAAAGTCATCCCTGTAT 0.458000 24 88 0 0 0.003954 0 0 ABCA13 154664 broad.mit.edu 37 7 48559685 48559685 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:48559685C>T ENST00000435803.1 + 53 13870 c.13846C>T c.(13846-13848)Cct>Tct p.P4616S ABCA13_ENST00000544596.1_Missense_Mutation_p.P346S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4616 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 TACTATTTTTCCTCAATTCTG 0.368000 43 23 0 0 0.002852 0 0 MUC17 140453 broad.mit.edu 37 7 100678548 100678548 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:100678548C>T ENST00000306151.4 + 3 3915 c.3851C>T c.(3850-3852)cCt>cTt p.P1284L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1284 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAAGTATACCTGTCAGCACC 0.473000 74 177 0 0 0.003610 0 0 A2M 2 broad.mit.edu 37 12 9230360 9230360 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:9230360G>A ENST00000318602.7 - 26 3520 c.3213C>T c.(3211-3213)tcC>tcT p.S1071S NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1071 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TCTGCCTCTGGGAGAGCCATA 0.478000 33 48 0 0 0.006230 0 0 SYT17 51760 broad.mit.edu 37 16 19236021 19236021 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:19236021C>T ENST00000562034.1 + 5 4704 c.906C>T c.(904-906)atC>atT p.I302I SYT17_ENST00000568433.1_Silent_p.I57I|SYT17_ENST00000568115.1_Silent_p.I302I|SYT17_ENST00000562711.2_Silent_p.I359I|SYT17_ENST00000355377.2_Silent_p.I363I Q9BSW7 SYT17_HUMAN synaptotagmin XVII 363 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 TTGTGAAAATCCAGCTGGTGC 0.428000 26 37 0 0 0.006320 0 0 OR4C3 256144 broad.mit.edu 37 11 48347299 48347299 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:48347299C>T ENST00000319856.4 + 1 828 c.807C>T c.(805-807)ttC>ttT p.F269F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GAGCCCACTTCATTGTTGTTG 0.438000 27 83 0 0 0.006320 0 0 TRHDE 29953 broad.mit.edu 37 12 72969148 72969148 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:72969148C>T ENST00000261180.4 + 11 2206 c.2110C>T c.(2110-2112)Caa>Taa p.Q704* TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 704 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ATTAATTGATCAATTAATCCG 0.343000 20 40 0 0 0.001882 0 0 GLYAT 10249 broad.mit.edu 37 11 58477521 58477521 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:58477521G>A ENST00000344743.3 - 6 750 c.609C>T c.(607-609)acC>acT p.T203T GLYAT_ENST00000529732.1_Silent_p.T203T NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 203 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) AGGTGGGAAAGGTCTGAATGC 0.522000 19 55 0 0 0.002299 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860460 43860460 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:43860460G>A ENST00000389420.3 - 9 1361 c.1362C>T c.(1360-1362)ttC>ttT p.F454F ADAMTS20_ENST00000553158.1_Silent_p.F454F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 454 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTACTCTAGGAATTCAGTAA 0.299000 24 48 0 0 0.004656 0 0 C4orf50 389197 broad.mit.edu 37 4 5961113 5961113 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:5961113A>G ENST00000531445.1 - 7 2288 c.2242T>C c.(2242-2244)Tta>Cta p.L748L C4orf50_ENST00000324058.5_Silent_p.L274L Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 274 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 TACATTTCTAACTCCAGCGGT 0.453000 36 79 0 0 0.002522 0 0 ZNF609 23060 broad.mit.edu 37 15 64915042 64915042 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:64915042C>T ENST00000326648.3 + 2 892 c.764C>T c.(763-765)tCc>tTc p.S255F NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 255 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCCCTGTTTCCACACCAGCA 0.463000 58 129 0 0 0.003610 0 0 PTPRO 5800 broad.mit.edu 37 12 15637040 15637040 + Missense_Mutation SNP G G A rs147697088 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:15637040G>A ENST00000281171.4 + 2 538 c.208G>A c.(208-210)Gaa>Aaa p.E70K PTPRO_ENST00000543886.1_Missense_Mutation_p.E70K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E70K NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 70 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TTATTTCTTCGAATTTGAGGA 0.368000 20 55 0 0 0.001523 0 0 FGL2 10875 broad.mit.edu 37 7 76826196 76826196 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:76826196A>C ENST00000248598.5 - 2 752 c.720T>G c.(718-720)gtT>gtG p.V240V CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 240 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TGTCACAGTAAACTTCAAAGC 0.463000 48 82 0 0 0.003610 0 0 PTPRB 5787 broad.mit.edu 37 12 70953405 70953405 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:70953405C>T ENST00000334414.6 - 18 4477 c.e18-1 PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000551525.1_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGACTTGGAGCTGAATGTAGG 0.418000 8 19 0 0 0.003080 0 0 ABCG8 64241 broad.mit.edu 37 2 44079832 44079832 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:44079832G>A ENST00000272286.2 + 6 879 c.789G>A c.(787-789)cgG>cgA p.R263R NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 263 ABC transporter. R -> Q (in STSL). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AAGGCAACCGGCTGGTGCTCA 0.582000 242 145 0 0 0.003610 0 0 TFF1 7031 broad.mit.edu 37 21 43783428 43783428 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:43783428G>A ENST00000291527.2 - 2 272 c.174C>T c.(172-174)ttC>ttT p.F58F NM_003225.2 NP_003216.1 P04155 TFF1_HUMAN trefoil factor 1 58 P-type. carbohydrate metabolic process|response to estradiol stimulus growth factor activity cervix(1)|lung(1) 2 CGGTGTCGTCGAAACAGCAGC 0.517000 17 45 0 0 0.004007 0 0 GNB2 2783 broad.mit.edu 37 7 100275174 100275174 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:100275174C>T ENST00000303210.4 + 6 803 c.321C>T c.(319-321)ccC>ccT p.P107P GNB2_ENST00000424361.1_Silent_p.P63P|GNB2_ENST00000436220.1_Silent_p.P63P|GNB2_ENST00000427895.1_Silent_p.P7P|GNB2_ENST00000393926.1_Silent_p.P107P|GNB2_ENST00000419828.1_Silent_p.P7P|GNB2_ENST00000393924.1_Silent_p.P107P NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 107 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CCTACGCGCCCTCAGGGAACT 0.667000 45 71 0 0 0.003214 0 0 PTPRD 5789 broad.mit.edu 37 9 8504401 8504401 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:8504401C>T ENST00000381196.4 - 20 2225 c.1682G>A c.(1681-1683)cGa>cAa p.R561Q PTPRD_ENST00000397611.3_Missense_Mutation_p.R558Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R558Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R548Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R548Q NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 561 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATGGTAATTCGTTGCTGGAA 0.433000 TSP Lung(15;0.13) 35 89 0 0 0.005524 0 0 GART 2618 broad.mit.edu 37 21 34889366 34889366 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:34889366G>A ENST00000381831.3 - 16 2300 c.2037C>T c.(2035-2037)gcC>gcT p.A679A GART_ENST00000543717.1_Silent_p.A231A|GART_ENST00000381815.4_Silent_p.A679A|GART_ENST00000381839.3_Silent_p.A679A NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 679 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CAGTAATATGGGCAAAGGCTT 0.458000 36 80 0 0 0.003755 0 0 AOC4P 90586 broad.mit.edu 37 17 41020120 41020120 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:41020120G>A ENST00000585538.1 + 0 959 NR_002773.1 GCCTGGCCCAGCTGGAGGCCC 0.617000 9 27 0 0 0.008291 0 0 SPEF2 79925 broad.mit.edu 37 5 35793314 35793314 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:35793314G>A ENST00000440995.2 + 32 4593 c.4593G>A c.(4591-4593)cgG>cgA p.R1531R CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.R1536R|SPEF2_ENST00000303129.4_Silent_p.R333R Q9C093 SPEF2_HUMAN sperm flagellar 2 1536 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGACTGGCGGAAGTTCCTGT 0.438000 18 49 0 0 0.007413 0 0 C10orf76 79591 broad.mit.edu 37 10 103789475 103789475 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:103789475G>A ENST00000370033.4 - 5 453 c.334C>T c.(334-336)Cat>Tat p.H112Y C10orf76_ENST00000311122.5_Missense_Mutation_p.H112Y NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 112 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTCTTTTGATGGACTCCTCGA 0.478000 24 24 0 0 0.003954 0 0 NLRP13 126204 broad.mit.edu 37 19 56423350 56423350 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:56423350C>T ENST00000588751.1 - 5 1857 c.1833G>A c.(1831-1833)agG>agA p.R611R NLRP13_ENST00000342929.3_Silent_p.R611R Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 611 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCTCCATTACCCTGGGAGATA 0.398000 18 36 0 0 0.004990 0 0 FREM2 341640 broad.mit.edu 37 13 39262895 39262895 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:39262895G>A ENST00000280481.7 + 1 1630 c.1414G>A c.(1414-1416)Gat>Aat p.D472N NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 472 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) GGTCATCAGCGATGAGGATGA 0.592000 20 23 0 0 0.001882 0 0 SPRR4 163778 broad.mit.edu 37 1 152944417 152944417 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152944417G>A ENST00000328051.2 + 2 100 c.51G>A c.(49-51)agG>agA p.R17R NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 17 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCCCAGAGGGCCCAGCAGC 0.582000 55 93 0 0 0.003610 0 0 ICA1L 130026 broad.mit.edu 37 2 203693702 203693702 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:203693702C>T ENST00000392237.2 - 3 188 c.31G>A c.(31-33)Gat>Aat p.D11N ICA1L_ENST00000358299.2_Missense_Mutation_p.D11N|ICA1L_ENST00000418208.1_Missense_Mutation_p.D11N|ICA1L_ENST00000425178.1_Missense_Mutation_p.D11N NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 11 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GACTGATTATCTTCTGGTCTG 0.383000 278 145 0 0 0.003610 0 0 ALPK2 115701 broad.mit.edu 37 18 56205350 56205350 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:56205350G>A ENST00000361673.3 - 5 2282 c.2069C>T c.(2068-2070)tCc>tTc p.S690F RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 690 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GTTTGAGAAGGAAATTGTTGT 0.493000 11 27 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 142567858 142567858 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:142567858A>G ENST00000389484.3 - 2 1166 c.195T>C c.(193-195)tcT>tcC p.S65S LRP1B_ENST00000486364.1_5'UTR NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 65 LDL-receptor class A 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGTATCTAAAGACTCGTCTG 0.458000 TSP Lung(27;0.18) 27 16 0 0 0.006320 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64599113 64599113 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:64599113C>T ENST00000498707.1 - 22 3604 c.3262G>A c.(3262-3264)Gat>Aat p.D1088N ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1060N NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1088 TSP type-1 5. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CACATTCTATCATTTAATCGA 0.517000 142 314 0 0 0.003610 0 0 NOTCH3 4854 broad.mit.edu 37 19 15272507 15272507 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:15272507G>A ENST00000263388.2 - 33 6007 c.5932C>T c.(5932-5934)Ctg>Ttg p.L1978L NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1978 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGGCGGCCAGGAATAGGGGG 0.637000 11 20 0 0 0.000978 0 0 COL17A1 1308 broad.mit.edu 37 10 105815669 105815669 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:105815669C>T ENST00000353479.5 - 18 1848 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K COL17A1_ENST00000369733.3_Missense_Mutation_p.E520K|COL17A1_ENST00000480127.1_5'UTR NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 520 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CGGTCCTTTTCTATTCTATCC 0.592000 46 48 0 0 0.003610 0 0 CACYBP 27101 broad.mit.edu 37 1 174977763 174977763 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:174977763C>T ENST00000367681.2 + 5 962 c.322C>T c.(322-324)Ctt>Ttt p.L108F CACYBP_ENST00000367679.2_Missense_Mutation_p.L151F|CACYBP_ENST00000405362.1_Missense_Mutation_p.L108F NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 151 CS.|Interaction with SKP1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 TGATACAGTTCTTATATTGTG 0.343000 24 74 0 0 0.003954 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622086 106622086 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:106622086C>T ENST00000390604.2 - 0 232 GGGCCCAGTTCATGTCACTGT 0.592000 79 61 0 0 0.003610 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048491 90048491 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:90048491G>A ENST00000330947.2 + 5 642 c.282G>A c.(280-282)caG>caA p.Q94Q LRRC8B_ENST00000358200.4_Silent_p.Q94Q|LRRC8B_ENST00000439853.1_Silent_p.Q94Q NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 94 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TCCGAATTCAGAATGACCTCC 0.502000 31 79 0 0 0.003271 0 0 ASB17 127247 broad.mit.edu 37 1 76397911 76397911 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:76397911G>A ENST00000284142.6 - 1 205 c.66C>T c.(64-66)ctC>ctT p.L22L NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 22 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 TTTTGTCAAGGAGATTGCAGA 0.358000 21 54 0 0 0.001523 0 0 BZRAP1 9256 broad.mit.edu 37 17 56384997 56384997 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:56384997G>A ENST00000355701.3 - 24 5828 c.4958C>T c.(4957-4959)cCc>cTc p.P1653L BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1653L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1593L NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1653 SH3 2. mitochondrion benzodiazepine receptor binding p.P1653F(2) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCTCGGAAGGGAAGCTCTTC 0.547000 16 25 0 0 0.004007 0 0 DCAF11 80344 broad.mit.edu 37 14 24588358 24588358 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:24588358G>A ENST00000446197.3 + 9 1511 c.784G>A c.(784-786)Gat>Aat p.D262N DCAF11_ENST00000559115.1_Missense_Mutation_p.D262N|DCAF11_ENST00000396936.1_Missense_Mutation_p.D162N|DCAF11_ENST00000396941.4_Missense_Mutation_p.D236N NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 262 CUL4 RING ubiquitin ligase complex protein binding TTTTAGGCCAGATGAGCGTCG 0.468000 46 121 0 0 0.003610 0 0 VAV1 7409 broad.mit.edu 37 19 6828654 6828654 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:6828654G>A ENST00000304076.2 + 12 1208 c.1114G>A c.(1114-1116)Gag>Aag p.E372K VAV1_ENST00000539284.1_Missense_Mutation_p.E275K|VAV1_ENST00000599806.1_Missense_Mutation_p.E317K|VAV1_ENST00000596764.1_Missense_Mutation_p.E340K|VAV1_ENST00000602142.1_Missense_Mutation_p.E372K NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 372 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GTGCGTGAACGAGGTCAAGCG 0.637000 64 158 0 0 0.003610 0 0 FCRL2 79368 broad.mit.edu 37 1 157737347 157737347 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:157737347A>G ENST00000469986.1 - 1 217 c.77T>C c.(76-78)cTa>cCa p.L26P FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000361516.3_Intron Q96LA5 FCRL2_HUMAN Fc receptor-like 2 0 Ig-like C2-type 1. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATGCCTCAATAGATTCACAAA 0.522000 52 100 0 0 0.003610 0 0 ADORA3 140 broad.mit.edu 37 1 112031474 112031474 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:112031474G>A ENST00000369716.4 - 3 763 c.630C>T c.(628-630)gcC>gcT p.A210A ADORA3_ENST00000369717.4_Silent_p.A129A NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled p.A129A(1)|p.A210A(1) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGTCCCTCAGGGCCACATGAT 0.552000 36 30 0 0 0.003755 0 0 OR4A5 81318 broad.mit.edu 37 11 51411660 51411660 + Missense_Mutation SNP G G A rs146541729 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:51411660G>A ENST00000319760.6 - 1 788 c.736C>T c.(736-738)Ctc>Ttc p.L246F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ACAAAAAAGAGGACAACAACG 0.403000 11 28 0 0 0.008291 0 0 CNGB3 54714 broad.mit.edu 37 8 87641194 87641194 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:87641194C>T ENST00000320005.5 - 12 1480 c.1433G>A c.(1432-1434)cGa>cAa p.R478Q NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 478 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 AGTCCGAACTCGCTTTTGCAC 0.423000 55 130 0 0 0.003610 0 0 NCOR2 9612 broad.mit.edu 37 12 124979720 124979720 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:124979720G>A ENST00000356219.3 - 2 233 c.78C>T c.(76-78)taC>taT p.Y26Y NCOR2_ENST00000429285.2_Silent_p.Y26Y|NCOR2_ENST00000404621.1_Silent_p.Y26Y|NCOR2_ENST00000397355.1_Silent_p.Y26Y|NCOR2_ENST00000405201.1_Silent_p.Y26Y|NCOR2_ENST00000404121.2_5'UTR NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 26 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) TCTGCACTGGGTAGGAAAGGC 0.652000 16 28 0 0 0.001523 0 0 CREB3L2 64764 broad.mit.edu 37 7 137590526 137590526 + Nonsense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:137590526A>T ENST00000330387.6 - 6 1188 c.837T>A c.(835-837)taT>taA p.Y279* CREB3L2_ENST00000456390.1_Nonsense_Mutation_p.Y279* NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 279 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TGGGGATGGGATAGCCCTCAG 0.512000 T FUS fibromyxoid sarcoma 49 116 0 0 0.003610 0 0 SAMD9 54809 broad.mit.edu 37 7 92734479 92734479 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:92734479G>A ENST00000379958.2 - 3 1201 c.932C>T c.(931-933)cCa>cTa p.P311L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 311 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGAGAACTGTGGAATAATGTC 0.333000 25 33 0 0 0.002780 0 0 TPTE 7179 broad.mit.edu 37 21 10934997 10934997 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:10934997C>T ENST00000298232.7 - 14 1109 c.741_splice c.e14-1 p.E248_splice TPTE_ENST00000342420.5_Splice_Site_p.E228_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.E266_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 266 Phosphatase tensin-type. 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) CGCACAACTTCCTAAAAAAGA 0.333000 11 113 0 0 0.000978 0 0 KCNMB4 27345 broad.mit.edu 37 12 70824331 70824331 + Silent SNP C C T rs140967177 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:70824331C>T ENST00000258111.4 + 3 990 c.531C>T c.(529-531)ccC>ccT p.P177P NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 177 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TCCTCTGGCCCCTGGTGACAT 0.512000 58 106 0 0 0.003610 0 0 PKN1 5585 broad.mit.edu 37 19 14580207 14580207 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:14580207C>T ENST00000242783.6 + 16 2196 c.2031C>T c.(2029-2031)ttC>ttT p.F677F PKN1_ENST00000342216.4_Silent_p.F683F NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 677 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GACACCCCTTCCTGGTGAACC 0.612000 34 93 0 0 0.002836 0 0 DMXL2 23312 broad.mit.edu 37 15 51773612 51773612 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:51773612G>A ENST00000251076.5 - 24 5978 c.5691C>T c.(5689-5691)tgC>tgT p.C1897C DMXL2_ENST00000449909.3_Silent_p.C1261C|DMXL2_ENST00000543779.2_Silent_p.C1897C|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1897 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CTAAAACAGGGCATCCAACTT 0.358000 42 95 0 0 0.002522 0 0 NEDD4 4734 broad.mit.edu 37 15 56130018 56130018 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:56130018C>T ENST00000508342.1 - 20 3787 c.3488G>A c.(3487-3489)cGa>cAa p.R1163Q NEDD4_ENST00000506154.1_Missense_Mutation_p.R1147Q|NEDD4_ENST00000435532.3_Missense_Mutation_p.R744Q|NEDD4_ENST00000338963.2_Missense_Mutation_p.R1091Q P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 1163 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CTTCTGGATTCGGTTTACAAA 0.318000 12 28 0 0 0.002450 0 0 RGS18 64407 broad.mit.edu 37 1 192153488 192153488 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:192153488A>C ENST00000367460.3 + 5 693 c.512A>C c.(511-513)cAc>cCc p.H171P NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 171 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCTACCCTCCACAGTTTTGAT 0.363000 20 66 0 0 0.002299 0 0 ARSF 416 broad.mit.edu 37 X 3028241 3028241 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:3028241C>T ENST00000381127.1 + 10 1559 c.1338C>T c.(1336-1338)ttC>ttT p.F446F ARSF_ENST00000537104.1_Silent_p.F446F|ARSF_ENST00000359361.2_Silent_p.F446F NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 446 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AATTTCTTTTCCACTACTGTG 0.582000 35 20 0 0 0.004289 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270431 1270431 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:1270431G>A ENST00000348261.5 + 35 6747 c.6499G>A c.(6499-6501)Gag>Aag p.E2167K CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2161K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2161K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2167 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGAGCCTGGGGAGGCGAAGGC 0.711000 11 27 0 0 0.001368 0 0 TBL3 10607 broad.mit.edu 37 16 2025694 2025694 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:2025694C>T ENST00000568546.1 + 10 1098 c.970C>T c.(970-972)Ctg>Ttg p.L324L NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 324 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 GGCTCGCTCCCTGCGGCTGCA 0.667000 13 30 0 0 0.004007 0 0 HAPLN4 404037 broad.mit.edu 37 19 19371842 19371842 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:19371842C>T ENST00000291481.7 - 3 327 c.264G>A c.(262-264)aaG>aaA p.K88K AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 88 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GGTCCACCACCTTTGTCCACT 0.677000 24 43 0 0 0.005443 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515377 26515377 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:26515377G>A ENST00000531191.1 + 19 2038 c.1031G>A c.(1030-1032)cGg>cAg p.R344Q CNKSR1_ENST00000374253.5_Missense_Mutation_p.R609Q|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R602Q Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 609 Pro-rich. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TCTTTCATGCGGCGCAACCGA 0.652000 44 77 0 0 0.003214 0 0 DOT1L 84444 broad.mit.edu 37 19 2222480 2222480 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:2222480C>T ENST00000398665.3 + 24 3348 c.3312C>T c.(3310-3312)tcC>tcT p.S1104S NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1104 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) CAGGCGTGTCCCCCAAGCGCC 0.701000 9 26 0 0 0.004482 0 0 ARHGAP5 394 broad.mit.edu 37 14 32615491 32615491 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:32615491C>T ENST00000345122.3 + 4 4203 c.3888C>T c.(3886-3888)taC>taT p.Y1296Y ARHGAP5_ENST00000556611.1_Silent_p.Y1295Y|ARHGAP5_ENST00000433497.1_Silent_p.Y35Y|ARHGAP5_ENST00000396582.2_Silent_p.Y31Y|ARHGAP5_ENST00000432921.1_Silent_p.Y1295Y|ARHGAP5_ENST00000539826.2_Silent_p.Y1296Y NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1296 Rho-GAP. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AAGGACTCTACCGTGTCAGCG 0.348000 13 30 0 0 0.003163 0 0 SFMBT2 57713 broad.mit.edu 37 10 7217970 7217970 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:7217970G>A ENST00000361972.4 - 17 2056 c.1966C>T c.(1966-1968)Cat>Tat p.H656Y SFMBT2_ENST00000397167.1_Missense_Mutation_p.H656Y NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 656 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GTTTTGGTATGAATGGAGCAG 0.403000 23 39 0 0 0.003954 0 0 SBK2 646643 broad.mit.edu 37 19 56041190 56041190 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:56041190G>A ENST00000413299.1 - 4 994 c.957C>T c.(955-957)atC>atT p.I319I SBK2_ENST00000344158.3_Silent_p.I319I NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 319 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCCTGATGGCGATCACAGCGC 0.756000 20 35 0 0 0.002299 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589969 64589969 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:64589969G>A ENST00000498707.1 - 24 3855 c.3513C>T c.(3511-3513)gcC>gcT p.A1171A ADAMTS9_ENST00000295903.4_Silent_p.A1143A NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1171 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCGTTTCCGGGGCAGCTGGGG 0.488000 100 250 0 0 0.003610 0 0 AMBRA1 55626 broad.mit.edu 37 11 46568772 46568772 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:46568772G>A ENST00000458649.2 - 4 687 c.269C>T c.(268-270)tCc>tTc p.S90F AMBRA1_ENST00000426438.1_Missense_Mutation_p.S90F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S90F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S90F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S90F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S90F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S90F Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 90 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TCCAATCAGGGAATGAACACA 0.468000 32 72 0 0 0.002836 0 0 TAF1C 9013 broad.mit.edu 37 16 84214762 84214762 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:84214762G>A ENST00000567759.1 - 11 1455 c.1273C>T c.(1273-1275)Cgt>Tgt p.R425C TAF1C_ENST00000341690.6_Missense_Mutation_p.R332C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R332C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R93C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R425C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R399C NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 425 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GCCCCCAAACGAAAAAGCAAC 0.632000 20 39 0 0 0.001882 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142478851 142478851 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:142478851C>T ENST00000603901.1 + 0 12 NR_001296.3 TGAATCCACTCCTGATCCTTG 0.572000 8 12 0 0 0.006214 0 0 ROS1 6098 broad.mit.edu 37 6 117678977 117678977 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:117678977G>A ENST00000368508.3 - 24 4042 c.3844C>T c.(3844-3846)Cct>Tct p.P1282S GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1277S NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1282 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTTAAAAGAGGATATACAGAA 0.274000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 11 19 0 0 0.000978 0 0 PELI3 246330 broad.mit.edu 37 11 66243537 66243537 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:66243537C>T ENST00000349459.6 + 7 1521 c.1237C>T c.(1237-1239)Cac>Tac p.H413Y CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.H437Y|CTD-3074O7.5_ENST00000533502.1_RNA NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 437 cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 ACCACTGCCCCACGGCACCCA 0.662000 10 16 0 0 0.000978 0 0 KIAA0430 9665 broad.mit.edu 37 16 15709850 15709850 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:15709850A>G ENST00000396368.3 - 16 3296 c.3090T>C c.(3088-3090)tgT>tgC p.C1030C KIAA0430_ENST00000551742.1_Silent_p.C1030C|KIAA0430_ENST00000548025.1_Silent_p.C1027C|KIAA0430_ENST00000344181.3_Silent_p.C632C|KIAA0430_ENST00000602337.1_Silent_p.C1027C|KIAA0430_ENST00000540441.2_Silent_p.C865C NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1029 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CTGCAATGTAACAATCTGGAA 0.383000 39 106 0 0 0.002522 0 0 KRTAP23-1 337963 broad.mit.edu 37 21 31720772 31720772 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:31720772G>A ENST00000334160.4 - 1 152 c.153C>T c.(151-153)ttC>ttT p.F51F NM_181624.1 NP_853655.1 A1A580 KR231_HUMAN keratin associated protein 23-1 51 intermediate filament large_intestine(1)|lung(4)|prostate(1) 6 GCAGAGAGAGGAACCCAGCTG 0.607000 11 32 0 0 0.008291 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410572 32410572 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:32410572C>T ENST00000382822.2 - 1 223 c.191G>A c.(190-192)tGa>tAa p.*64* NM_001099219.1 NP_001092689.1 Q3LI54 KR198_HUMAN keratin associated protein 19-8 0 intermediate filament endometrium(2)|upper_aerodigestive_tract(1) 3 GTTCACTCTTCAGTAGAAGGC 0.473000 30 76 0 0 0.002836 0 0 THSD4 79875 broad.mit.edu 37 15 72057427 72057427 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:72057427C>T ENST00000355327.3 + 16 2792 c.2658C>T c.(2656-2658)acC>acT p.T886T THSD4_ENST00000357769.4_Silent_p.T526T|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.T886T Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 886 TSP type-1 5. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ATGCAGACACCTTTGAAGTGT 0.512000 40 66 0 0 0.008740 0 0 USH2A 7399 broad.mit.edu 37 1 216052207 216052207 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:216052207G>A ENST00000366943.2 - 42 8843 c.8457C>T c.(8455-8457)acC>acT p.T2819T USH2A_ENST00000307340.3_Silent_p.T2819T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2819 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) TCTGAGGTACGGTGGGGTGAG 0.453000 HNSCC(13;0.011) 37 63 0 0 0.004289 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564444 46564444 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:46564444G>A ENST00000458649.2 - 7 1541 c.1123C>T c.(1123-1125)Cag>Tag p.Q375* AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q285*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q375*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q285* Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 375 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GTGCTGCTCTGGACTGTACTG 0.627000 52 106 0 0 0.003610 0 0 FER1L6 654463 broad.mit.edu 37 8 125074120 125074120 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:125074120C>T ENST00000522917.1 + 25 3381 c.3175C>T c.(3175-3177)Ccg>Tcg p.P1059S FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1059S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1059 C2 4. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCTTCTGCACCCGCCACTGAG 0.547000 48 77 0 0 0.003610 0 0 FSTL4 23105 broad.mit.edu 37 5 132552948 132552948 + Silent SNP G G A rs111394662 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:132552948G>A ENST00000265342.7 - 13 1830 c.1581C>T c.(1579-1581)gtC>gtT p.V527V CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 527 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) CTTGGATGTCGACCACAAGGA 0.502000 33 27 0 0 0.004878 0 0 OR4K2 390431 broad.mit.edu 37 14 20344634 20344634 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:20344634G>A ENST00000298642.2 + 1 244 c.208G>A c.(208-210)Gat>Aat p.D70N NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCAATCATTGATATGTCTCT 0.423000 47 203 0 0 0.003610 0 0 LRRC16A 55604 broad.mit.edu 37 6 25450225 25450225 + Splice_Site SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:25450225T>G ENST00000329474.6 + 6 837 c.e6+2 LRRC16A_ENST00000377969.3_Splice_Site NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GCCCCTGTGGTGAGCATGCAT 0.507000 5 51 0 0 0.001168 0 0 IDO2 169355 broad.mit.edu 37 8 39872876 39872876 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:39872876G>A ENST00000502986.2 + 11 1260 c.1018G>A c.(1018-1020)Gac>Aac p.D340N IDO2_ENST00000389060.4_Missense_Mutation_p.D327N|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 327 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 ATCTGGACAGGACCACTTGCT 0.522000 14 36 0 0 0.002450 0 0 TMC5 79838 broad.mit.edu 37 16 19452014 19452014 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:19452014C>T ENST00000396229.2 + 3 1403 c.654C>T c.(652-654)ccC>ccT p.P218P TMC5_ENST00000541464.1_Silent_p.P218P|TMC5_ENST00000542583.2_Silent_p.P218P|TMC5_ENST00000381414.4_Silent_p.P218P NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 218 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACTCTCCACCCTTTTTTGGGG 0.448000 25 57 0 0 0.003954 0 0 RAG2 5897 broad.mit.edu 37 11 36615272 36615272 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:36615272C>T ENST00000311485.3 - 2 608 c.447G>A c.(445-447)ggG>ggA p.G149G NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 149 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CCATACTTTTCCCTCGGCTGT 0.453000 Familial Hemophagocytic Lymphohistiocytosis 37 97 0 0 0.006230 0 0 SIAH3 283514 broad.mit.edu 37 13 46357845 46357845 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:46357845G>A ENST00000400405.2 - 2 589 c.483C>T c.(481-483)tcC>tcT p.S161S NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 161 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GGCCAAGGCAGGAGTGCATGA 0.597000 11 13 0 0 0.008291 0 0 DGKB 1607 broad.mit.edu 37 7 14880876 14880876 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:14880876C>T ENST00000403951.2 - 2 432 c.13G>A c.(13-15)Gaa>Aaa p.E5K DGKB_ENST00000407950.1_Missense_Mutation_p.E5K|DGKB_ENST00000406247.3_Missense_Mutation_p.E5K|DGKB_ENST00000399322.3_Missense_Mutation_p.E5K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E5K|DGKB_ENST00000402815.1_Missense_Mutation_p.E5K|DGKB_ENST00000444700.2_Missense_Mutation_p.E5K Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 5 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) GCCCATTTTTCCTGGTTTGTC 0.403000 27 25 0 0 0.001786 0 0 LDB2 9079 broad.mit.edu 37 4 16510279 16510279 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:16510279C>T ENST00000502640.1 - 7 918 c.770G>A c.(769-771)cGg>cAg p.R257Q LDB2_ENST00000503178.2_Missense_Mutation_p.R133Q|LDB2_ENST00000515064.1_Missense_Mutation_p.R257Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R257Q|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000304523.5_Missense_Mutation_p.R257Q O43679 LDB2_HUMAN LIM domain binding 2 257 LIM domain binding|transcription cofactor activity p.R257Q(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 CCTTTTTCTCCGTTTGGTTGT 0.478000 20 46 0 0 0.001882 0 0 SULT1B1 27284 broad.mit.edu 37 4 70592812 70592812 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:70592812C>T ENST00000310613.2 - 8 1182 c.885G>A c.(883-885)gaG>gaA p.E295E NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 295 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 CACTTTAAATCTCTGTGCGGA 0.368000 17 33 0 0 0.007413 0 0 USH2A 7399 broad.mit.edu 37 1 216052194 216052194 + Missense_Mutation SNP C C A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:216052194C>A ENST00000366943.2 - 42 8856 c.8470G>T c.(8470-8472)Gtt>Ttt p.V2824F USH2A_ENST00000307340.3_Missense_Mutation_p.V2824F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2824 Fibronectin type-III 15. 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) AATGGGCCAACATTCTGAGGT 0.468000 HNSCC(13;0.011) 17 79 1.99824e-07 2.3962e-07 0.004990 1 0 DNAH8 1769 broad.mit.edu 37 6 38919200 38919200 + Missense_Mutation SNP G G A rs140519170 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:38919200G>A ENST00000359357.3 + 80 11958 c.11704G>A c.(11704-11706)Gaa>Aaa p.E3902K RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E4119K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3866K 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 GAAAACTTGGGAAGAAAGTGA 0.433000 147 182 0 0 0.003610 0 0 CR1 1378 broad.mit.edu 37 1 207782974 207782974 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:207782974A>C ENST00000367049.4 + 37 6236 c.6236A>C c.(6235-6237)cAc>cCc p.H2079P CR1_ENST00000367051.1_Missense_Mutation_p.H1629P|CR1_ENST00000400960.2_Missense_Mutation_p.H1629P|CR1_ENST00000367053.1_Missense_Mutation_p.H1629P|CR1_ENST00000367052.1_Missense_Mutation_p.H1629P NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1629 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTAGGGTCCCACACTGTGCAG 0.522000 4 26 0 0 0.000602 0 0 XPO7 23039 broad.mit.edu 37 8 21842176 21842176 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:21842176C>T ENST00000434536.1 + 12 1426 c.1324C>T c.(1324-1326)Ctg>Ttg p.L442L XPO7_ENST00000433566.4_Silent_p.L434L|XPO7_ENST00000252512.9_Silent_p.L433L Q9UIA9 XPO7_HUMAN exportin 7 433 Missing (in Ref. 3; BAA34465). mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GGAAGATCCCCTGGAGGATAC 0.502000 9 20 0 0 0.004482 0 0 FBXO42 54455 broad.mit.edu 37 1 16632330 16632330 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:16632330G>A ENST00000375592.3 - 3 551 c.335C>T c.(334-336)cCt>cTt p.P112L FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 112 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TGGGGTTCCAGGATAAGGATA 0.473000 35 70 0 0 0.003755 0 0 CD163L1 283316 broad.mit.edu 37 12 7520753 7520753 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:7520753A>G ENST00000313599.3 - 17 4170 c.4113T>C c.(4111-4113)ctT>ctC p.L1371L CD163L1_ENST00000396630.1_Silent_p.L1371L|CD163L1_ENST00000416109.2_Silent_p.L1381L Q9NR16 C163B_HUMAN CD163 molecule-like 1 1371 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GAACCAGGAGAAGGAGCCCAA 0.373000 16 40 0 0 0.006122 0 0 EFHD2 79180 broad.mit.edu 37 1 15736621 15736621 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:15736621G>A ENST00000375980.4 + 1 231 c.154G>A c.(154-156)Gac>Aac p.D52N NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 52 membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGGCAGCGCGGACTGCGAGCT 0.776000 5 19 0 0 0.001168 0 0 MAP10 54627 broad.mit.edu 37 1 232942489 232942489 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:232942489A>C ENST00000418460.1 + 1 1847 c.1720A>C c.(1720-1722)Aag>Cag p.K574Q NM_019090.2 NP_061963.2 microtubule-associated protein 10 GACTGAGGATAAGAAGTCACC 0.448000 11 55 0 0 0.000978 0 0 DENND5B 160518 broad.mit.edu 37 12 31566412 31566412 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:31566412G>A ENST00000389082.5 - 13 2903 c.2639C>T c.(2638-2640)tCc>tTc p.S880F DENND5B_ENST00000306833.6_Missense_Mutation_p.S915F|DENND5B_ENST00000536562.1_Missense_Mutation_p.S915F NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 880 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAGATGCTGGGACAAGAGCTT 0.403000 24 65 0 0 0.002780 0 0 NR1I2 8856 broad.mit.edu 37 3 119536041 119536041 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:119536041C>T ENST00000393716.2 + 9 3126 c.1287C>T c.(1285-1287)ttC>ttT p.F429F NR1I2_ENST00000466380.1_Silent_p.F392F|NR1I2_ENST00000337940.4_Silent_p.F468F NM_003889.3 NP_003880.3 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 429 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) AGGAGTTGTTCGGCATCACAG 0.637000 38 28 0 0 0.006999 0 0 RBM14 10432 broad.mit.edu 37 11 66393997 66393997 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:66393997C>T ENST00000310137.4 + 3 2007 c.1868C>T c.(1867-1869)tCg>tTg p.S623L RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 623 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TCGCAGCTTTCGTTCCGCCGC 0.547000 36 61 0 0 0.004878 0 0 PNPLA8 50640 broad.mit.edu 37 7 108143074 108143074 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:108143074G>A ENST00000426128.2 - 4 1344 c.1219C>T c.(1219-1221)Cca>Tca p.P407S PNPLA8_ENST00000436062.1_Missense_Mutation_p.P407S|PNPLA8_ENST00000453144.1_Missense_Mutation_p.P307S|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.P407S|PNPLA8_ENST00000422087.1_Missense_Mutation_p.P407S|PNPLA8_ENST00000388728.5_Missense_Mutation_p.P407S NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 407 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 AATAAATATGGAATAATTCTT 0.343000 11 28 0 0 0.000978 0 0 TMCO6 55374 broad.mit.edu 37 5 140024645 140024645 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:140024645C>T ENST00000394671.3 + 12 1545 c.1444C>T c.(1444-1446)Cgt>Tgt p.R482C NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.R488C|TMCO6_ENST00000537378.1_Missense_Mutation_p.R242C NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 482 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCCAGGATCGTGTGTATGC 0.512000 7 53 0 0 0.003080 0 0 FLT3LG 2323 broad.mit.edu 37 19 49979049 49979049 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:49979049C>T ENST00000594009.1 + 2 214 c.135C>T c.(133-135)atC>atT p.I45I FLT3LG_ENST00000597551.1_Silent_p.I45I|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000600429.1_Silent_p.I45I|FLT3LG_ENST00000344019.3_Silent_p.I45I|FLT3LG_ENST00000596435.1_Silent_p.I45I|FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 45 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTGTCAAAATCCGTGAGCTGG 0.587000 26 27 0 0 0.003954 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086702 46086702 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:46086702G>A ENST00000360770.3 - 1 142 c.102C>T c.(100-102)tgC>tgT p.C34C TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 34 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 CAGGCACACAGCAGGATGCCT 0.667000 11 22 0 0 0.000978 0 0 DLGAP2 9228 broad.mit.edu 37 8 1616567 1616567 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:1616567C>T ENST00000421627.2 + 6 1777 c.1643C>T c.(1642-1644)tCg>tTg p.S548L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 627 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCTCTGATCTCGGTGACGGCG 0.602000 6 10 0 0 0.001984 0 0 MYH1 4619 broad.mit.edu 37 17 10399694 10399694 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:10399694C>T ENST00000226207.5 - 34 4923 c.4829G>A c.(4828-4830)aGg>aAg p.R1610K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1610 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATTCCTGCTCCTGATCTCAGC 0.473000 63 52 0 0 0.003610 0 0 AKNA 80709 broad.mit.edu 37 9 117109058 117109058 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:117109058G>A ENST00000307564.4 - 17 3566 c.3405C>T c.(3403-3405)tcC>tcT p.S1135S AKNA_ENST00000374079.4_Silent_p.S80S|AKNA_ENST00000374088.3_Silent_p.S1135S|AKNA_ENST00000374075.5_Silent_p.S1054S|AKNA_ENST00000223791.3_Silent_p.S595S NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 ATCTCTCTGTGGATTTACTAG 0.493000 17 12 0 0 0.006122 0 0 KCNH5 27133 broad.mit.edu 37 14 63174486 63174486 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:63174486C>T ENST00000322893.7 - 11 2975 c.2707G>A c.(2707-2709)Gag>Aag p.E903K KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 903 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AAGGCCTGCTCGGGGATGGGA 0.547000 52 91 0 0 0.003610 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23401326 23401326 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:23401326A>C ENST00000258729.3 - 4 676 c.320T>G c.(319-321)gTg>gGg p.V107G IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 107 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 ACAGCTCTCCACCACTCCATA 0.373000 56 49 0 0 0.003610 0 0 CTC-260F20.3 0 broad.mit.edu 37 19 19637050 19637050 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:19637050A>G ENST00000555938.1 + 2 166 c.154A>G c.(154-156)Aag>Gag p.K52E NDUFA13_ENST00000428459.2_Missense_Mutation_p.K52E|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.K52E|NDUFA13_ENST00000503283.1_Missense_Mutation_p.K52E|NDUFA13_ENST00000252576.5_Missense_Mutation_p.K135E GAGCATAATGAAGTGGAACCG 0.627000 9 30 0 0 0.004482 0 0 HSP90B1 7184 broad.mit.edu 37 12 104332163 104332163 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:104332163G>A ENST00000299767.5 + 7 1083 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 301 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) agcagccaaagaagagaaaga 0.363000 4 13 0 0 0.000248 0 0 NPAS1 4861 broad.mit.edu 37 19 47535945 47535945 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:47535945C>T ENST00000602212.1 + 5 697 c.477C>T c.(475-477)ttC>ttT p.F159F NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.F159F Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 159 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) AAGGAAAATTCCTCTACATCT 0.577000 OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 46 0 0 0.006320 0 0 SLC38A8 146167 broad.mit.edu 37 16 84066964 84066964 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:84066964G>A ENST00000299709.3 - 3 498 c.499C>T c.(499-501)Ccg>Tcg p.P167S NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 167 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ATCTCCCGCGGGGCAGACAGG 0.657000 54 133 0 0 0.003610 0 0 ATP8B4 79895 broad.mit.edu 37 15 50212466 50212466 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:50212466C>T ENST00000284509.6 - 18 2041 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K ATP8B4_ENST00000559829.1_Missense_Mutation_p.E634K NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 634 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E634K(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCAATTTCTTCATATAGCCCA 0.393000 33 80 0 0 0.005524 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235621987 235621987 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:235621987A>C ENST00000366600.3 - 8 1177 c.949T>G c.(949-951)Tat>Gat p.Y317D NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 317 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) ATATCATCATAGATGCTGCTT 0.378000 43 51 0 0 0.002522 0 0 CCDC81 60494 broad.mit.edu 37 11 86086284 86086284 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:86086284G>A ENST00000445632.2 + 1 351 c.79_splice c.e1+1 p.E27_splice CCDC81_ENST00000354755.1_Splice_Site_p.E27_splice|CCDC81_ENST00000278487.3_5'UTR NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 27 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) GAGCCAGGAGGGTAAGCGTGT 0.637000 53 115 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238253051 238253051 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:238253051C>T ENST00000295550.4 - 36 8062 c.7610G>A c.(7609-7611)gGg>gAg p.G2537E COL6A3_ENST00000409809.1_Missense_Mutation_p.G2331E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2331E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2336E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2337E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1930E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2537 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGGGGTGATCCCCGCATCTGA 0.537000 131 43 0 0 0.003610 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84882995 84882995 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:84882995C>T ENST00000262424.5 + 4 588 c.364C>T c.(364-366)Cgc>Tgc p.R122C CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R122C|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R122C NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 122 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CTGCAGGTATCGCTCTCCGGG 0.642000 26 41 0 0 0.007291 0 0 SEPT12 124404 broad.mit.edu 37 16 4833547 4833547 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:4833547G>A ENST00000268231.8 - 7 905 c.642C>T c.(640-642)aaC>aaT p.N214N SEPT12_ENST00000396693.5_Silent_p.N168N NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 214 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GGGTCCTCAGGTTCTGCTGGA 0.607000 36 70 0 0 0.002222 0 0 SEC31B 25956 broad.mit.edu 37 10 102250508 102250508 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:102250508G>A ENST00000370345.3 - 20 2702 c.2605C>T c.(2605-2607)Ccc>Tcc p.P869S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 869 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ATGGCCTGGGGCCCAGGTGCC 0.572000 15 14 0 0 0.003163 0 0 TAF3 83860 broad.mit.edu 37 10 8007463 8007463 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:8007463C>T ENST00000344293.5 + 3 2196 c.1990C>T c.(1990-1992)Ccc>Tcc p.P664S NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 664 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GTTGGCCCTGCCCTTGTTCAG 0.507000 26 32 0 0 0.008361 0 0 BTN1A1 696 broad.mit.edu 37 6 26509046 26509046 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:26509046C>T ENST00000244513.6 + 7 1291 c.1225C>T c.(1225-1227)Ctc>Ttc p.L409F NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 409 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CCTCACTCCTCTCCGGACCCC 0.517000 16 91 0 0 0.004990 0 0 GPR12 2835 broad.mit.edu 37 13 27333041 27333041 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:27333041G>A ENST00000405846.3 - 2 1145 c.924C>T c.(922-924)atC>atT p.I308I GPR12_ENST00000381436.2_Silent_p.I308I NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 308 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GCGCTTTCTGGATCTCTTGGT 0.557000 37 21 0 0 0.005524 0 0 TMEM132E 124842 broad.mit.edu 37 17 32954075 32954075 + Splice_Site SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:32954075A>C ENST00000321639.5 + 3 1055 c.728_splice c.e3+1 p.R243_splice NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 243 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CTTCACACTCAGGTAGTAGGG 0.617000 23 45 0 0 0.005443 0 0 SCN11A 11280 broad.mit.edu 37 3 38941523 38941523 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38941523G>A ENST00000450244.1 - 13 2082 c.1884C>T c.(1882-1884)atC>atT p.I628I SCN11A_ENST00000444237.2_Silent_p.I628I|SCN11A_ENST00000302328.3_Silent_p.I628I|SCN11A_ENST00000456224.3_Silent_p.I628I Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 628 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) CGAGCGCAATGATTTTTAGGC 0.408000 8 13 0 0 0.004482 0 0 TRAP1 10131 broad.mit.edu 37 16 3727657 3727657 + Silent SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:3727657G>T ENST00000246957.5 - 6 634 c.546C>A c.(544-546)gcC>gcA p.A182A TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000538171.1_Silent_p.A129A NM_016292.2 NP_057376.2 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 182 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) CATCCAGGAAGGCCTGTGGGG 0.592000 18 35 6.49762e-13 7.82463e-13 0.006122 1 0 UBBP4 23666 broad.mit.edu 37 17 21731478 21731478 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:21731478G>A ENST00000578713.1 + 2 557 c.553G>A c.(553-555)Gaa>Aaa p.E185K UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GATCCAGGATGAAGAAGGCAT 0.517000 18 32 0 0 0.007413 0 0 TCTE1 202500 broad.mit.edu 37 6 44255358 44255358 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:44255358G>A ENST00000371505.4 - 2 327 c.205C>T c.(205-207)Cct>Tct p.P69S TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 69 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GACCACTCAGGATCCTCAGCA 0.552000 20 84 0 0 0.001523 0 0 ZNF831 128611 broad.mit.edu 37 20 57829627 57829627 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:57829627C>T ENST00000371030.2 + 5 4863 c.4863C>T c.(4861-4863)atC>atT p.I1621I NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1621 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CTGGATTAATCACTCGGAAAG 0.488000 27 83 0 0 0.006320 0 0 LRFN1 57622 broad.mit.edu 37 19 39798745 39798745 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:39798745G>A ENST00000248668.4 - 2 1843 c.1844C>T c.(1843-1845)gCt>gTt p.A615V NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 615 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGCGGGGGCAGCCTGGGACTC 0.746000 4 18 0 0 0.001168 0 0 OR2M2 391194 broad.mit.edu 37 1 248344172 248344172 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:248344172G>A ENST00000359682.2 + 1 885 c.885G>A c.(883-885)aaG>aaA p.K295K NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCCGCAACAAGGAGGTGACTA 0.453000 121 171 0 0 0.003610 0 0 ASTN2 23245 broad.mit.edu 37 9 119202937 119202937 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:119202937C>T ENST00000313400.4 - 22 3833 c.3733G>A c.(3733-3735)Gaa>Aaa p.E1245K ASTN2_ENST00000341734.4_Missense_Mutation_p.E297K|ASTN2_ENST00000373996.3_Missense_Mutation_p.E1241K|ASTN2_ENST00000288520.5_Missense_Mutation_p.E346K|ASTN2_ENST00000361477.3_Missense_Mutation_p.E297K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1194K O75129 ASTN2_HUMAN astrotactin 2 1245 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CCAAACTTTTCATAGTGAGAG 0.512000 22 31 0 0 0.002780 0 0 CKMT2 1160 broad.mit.edu 37 5 80550260 80550260 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:80550260G>A ENST00000424301.2 + 5 635 c.397G>A c.(397-399)Ggc>Agc p.G133S CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.G133S|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.G133S|CTC-281B15.1_ENST00000501927.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 133 creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) AAGACACAACGGCTATGACCC 0.517000 21 26 0 0 0.001882 0 0 FGF9 2254 broad.mit.edu 37 13 22275367 22275367 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:22275367C>T ENST00000382353.5 + 3 950 c.420C>T c.(418-420)ttC>ttT p.F140F FGF9_ENST00000478546.1_3'UTR NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 140 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) GAGAACAGTTCGAAGAAAACT 0.393000 14 4 0 0 0.004007 0 0 MYOCD 93649 broad.mit.edu 37 17 12626277 12626277 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:12626277G>A ENST00000425538.1 + 5 567 c.367G>A c.(367-369)Gaa>Aaa p.E123K MYOCD_ENST00000343344.4_Missense_Mutation_p.E123K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E27K NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 123 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGAGCTGGTGGAAAAAAACAT 0.473000 61 57 0 0 0.003610 0 0 GABRA3 2556 broad.mit.edu 37 X 151358362 151358362 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:151358362G>A ENST00000370314.4 - 9 1221 c.983C>T c.(982-984)tCc>tTc p.S328F GABRA3_ENST00000535043.1_Missense_Mutation_p.S328F|GABRA3_ENST00000370311.1_Missense_Mutation_p.S328F|GABRA3_ENST00000497894.1_5'UTR NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 328 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|protein binding p.S328F(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTAGGTAAGGAATTTCTGGC 0.458000 24 13 0 0 0.006320 0 0 GPX6 257202 broad.mit.edu 37 6 28473551 28473551 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:28473551G>A ENST00000361902.1 - 4 437 c.388C>T c.(388-390)Ccc>Tcc p.P130S GPX6_ENST00000474923.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 130 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TGGAAACTGGGGACAAAGCCA 0.443000 24 118 0 0 0.002780 0 0 OR51B2 79345 broad.mit.edu 37 11 5344769 5344769 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5344769C>T ENST00000328813.2 - 1 813 c.759G>A c.(757-759)gtG>gtA p.V253V HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAAACCCATCACTGTAACAT 0.398000 13 30 0 0 0.002450 0 0 TESPA1 9840 broad.mit.edu 37 12 55360174 55360174 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:55360174G>A ENST00000449076.1 - 6 477 c.345C>T c.(343-345)tcC>tcT p.S115S TESPA1_ENST00000316577.8_Silent_p.S115S|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR NM_001136030.2 NP_001129502.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 115 ACACTTACCTGGAGAAGAGTT 0.428000 32 60 0 0 0.004878 0 0 COL23A1 91522 broad.mit.edu 37 5 177690292 177690292 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:177690292G>A ENST00000390654.3 - 9 913 c.556C>T c.(556-558)Ccg>Tcg p.P186S COL23A1_ENST00000407622.1_Missense_Mutation_p.P150S NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 186 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) GGGGGCCCCGGAGGCCCAGCA 0.672000 24 26 0 0 0.002780 0 0 ZNF91 7644 broad.mit.edu 37 19 23542382 23542382 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:23542382G>A ENST00000300619.7 - 4 3604 c.3399C>T c.(3397-3399)ccC>ccT p.P1133P ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.P1101P NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1133 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CACATTTGTAGGGTTTCTCTC 0.393000 15 36 0 0 0.003163 0 0 ZC3H14 79882 broad.mit.edu 37 14 89042269 89042269 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:89042269A>G ENST00000251038.5 + 8 1333 c.1108A>G c.(1108-1110)Act>Gct p.T370A ZC3H14_ENST00000393514.5_Missense_Mutation_p.T370A|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000359301.3_Missense_Mutation_p.T336A|ZC3H14_ENST00000336693.4_Missense_Mutation_p.T336A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.T370A|ZC3H14_ENST00000557607.1_Missense_Mutation_p.T215A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.T370A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.T370A NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 370 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 AACAAAAACAACTAACTACTC 0.318000 17 23 0 0 0.006122 0 0 CHRM3 1131 broad.mit.edu 37 1 240071954 240071954 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:240071954G>A ENST00000255380.4 + 5 1982 c.1203G>A c.(1201-1203)ttG>ttA p.L401L NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 401 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGTGGACTTGGAGAGGAAAG 0.572000 13 23 0 0 0.001855 0 0 IFNB1 3456 broad.mit.edu 37 9 21077397 21077397 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:21077397C>T ENST00000380232.2 - 1 546 c.472G>A c.(472-474)Gag>Aag p.E158K NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 158 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TGACTGTACTCCTTGGCCTTC 0.433000 48 113 0 0 0.003610 0 0 SPAG17 200162 broad.mit.edu 37 1 118623749 118623749 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:118623749C>T ENST00000336338.5 - 15 2249 c.2184G>A c.(2182-2184)aaG>aaA p.K728K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 728 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GGGGCTGAGCCTTCATGATGC 0.403000 70 90 0 0 0.003610 0 0 PLG 5340 broad.mit.edu 37 6 161137681 161137681 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:161137681C>T ENST00000308192.9 + 7 736 c.673C>T c.(673-675)Cca>Tca p.P225S NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 225 Kringle 2. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATTCAGATTTCCAAACAAGAA 0.443000 11 22 0 0 0.001368 0 0 PEAR1 375033 broad.mit.edu 37 1 156874588 156874588 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:156874588C>T ENST00000338302.3 + 4 375 c.150C>T c.(148-150)ctC>ctT p.L50L PEAR1_ENST00000292357.7_Silent_p.L50L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 50 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCAGCCTGCTCCCCTCAGAGC 0.672000 21 91 0 0 0.002299 0 0 NLRP8 126205 broad.mit.edu 37 19 56466604 56466604 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:56466604C>T ENST00000291971.3 + 3 1251 c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W NLRP8_ENST00000590542.1_Missense_Mutation_p.R394W NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 394 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCCATGTGCCGGGTCCCTGT 0.468000 27 67 0 0 0.008361 0 0 THSD1 55901 broad.mit.edu 37 13 52952660 52952660 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:52952660C>T ENST00000349258.4 - 4 1830 c.1286G>A c.(1285-1287)gGa>gAa p.G429E THSD1_ENST00000544466.1_Missense_Mutation_p.G103E|THSD1_ENST00000258613.4_Missense_Mutation_p.G482E NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 482 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GGGCCCGTCTCCCCCATCCGA 0.657000 18 28 0 0 0.008871 0 0 INSR 3643 broad.mit.edu 37 19 7184365 7184365 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:7184365G>A ENST00000341500.5 - 3 975 c.936C>T c.(934-936)atC>atT p.I312I INSR_ENST00000302850.5_Silent_p.I312I NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 312 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GACACTCAGGGATGCACTTGT 0.567000 78 173 0 0 0.003610 0 0 PDE2A 5138 broad.mit.edu 37 11 72295960 72295960 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:72295960C>T ENST00000334456.5 - 17 1560 c.1315G>A c.(1315-1317)Gag>Aag p.E439K PDE2A_ENST00000544570.1_Missense_Mutation_p.E432K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E324K|PDE2A_ENST00000376450.3_Missense_Mutation_p.E183K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E430K|PDE2A_ENST00000444035.2_Missense_Mutation_p.E430K|RP11-169D4.2_ENST00000545254.1_RNA NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 439 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GCCACCAGCTCATTCTGATCC 0.637000 103 198 0 0 0.003610 0 0 NLRP12 91662 broad.mit.edu 37 19 54313050 54313050 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:54313050C>T ENST00000324134.6 - 3 2031 c.1863G>A c.(1861-1863)caG>caA p.Q621Q NLRP12_ENST00000391775.3_Silent_p.Q621Q|NLRP12_ENST00000351894.4_Silent_p.Q621Q|NLRP12_ENST00000354278.3_Silent_p.Q621Q|NLRP12_ENST00000345770.5_Silent_p.Q621Q|NLRP12_ENST00000391773.1_Silent_p.Q621Q|NLRP12_ENST00000391772.1_Silent_p.Q621Q|NLRP12_ENST00000535162.1_Silent_p.Q621Q NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 621 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) ACTCCTCCTCCTGGATCTCGT 0.557000 20 29 0 0 0.001882 0 0 MGAM 8972 broad.mit.edu 37 7 141765190 141765190 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:141765190C>T ENST00000475668.2 + 38 4594 c.4540C>T c.(4540-4542)Ccc>Tcc p.P1514S MGAM_ENST00000549489.2_Missense_Mutation_p.P1514S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1514 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCCACATTTCCCTCTTCTGG 0.612000 7 7 0 0 0.001984 0 0 PFKFB2 5208 broad.mit.edu 37 1 207236759 207236759 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:207236759C>T ENST00000367080.3 + 6 567 c.443C>T c.(442-444)tCc>tTc p.S148F PFKFB2_ENST00000545806.1_Missense_Mutation_p.S115F|PFKFB2_ENST00000411990.2_Missense_Mutation_p.S50F|PFKFB2_ENST00000367079.2_Missense_Mutation_p.S148F NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 148 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) GAACAGAATTCCTTCAAGGTA 0.483000 12 29 0 0 0.001855 0 0 HEXDC 284004 broad.mit.edu 37 17 80399035 80399035 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:80399035C>T ENST00000337014.6 + 10 1619 c.1145C>T c.(1144-1146)tCc>tTc p.S382F HEXDC_ENST00000327949.9_Intron|HEXDC_ENST00000577944.1_Missense_Mutation_p.P355S NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 0 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCAGGGCTCTCCGCAGGGAGG 0.647000 54 124 0 0 0.003610 0 0 C12orf71 728858 broad.mit.edu 37 12 27235198 27235198 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:27235198T>G ENST00000429849.2 - 1 249 c.219A>C c.(217-219)caA>caC p.Q73H NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 73 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GAATTTGGTCTTGTCTCTTCA 0.517000 16 24 0 0 0.004007 0 0 CD5L 922 broad.mit.edu 37 1 157804522 157804522 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:157804522G>A ENST00000368174.4 - 4 489 c.393C>T c.(391-393)ttC>ttT p.F131F NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 131 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGACTGGGGAGAAAGAGCTCT 0.567000 41 89 0 0 0.006230 0 0 CRP 1401 broad.mit.edu 37 1 159683466 159683466 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:159683466C>T ENST00000255030.5 - 2 627 c.524G>A c.(523-525)gGa>gAa p.G175E CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000437342.1_5'UTR NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 175 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GTTCACATTTCCAATGTCTCC 0.532000 78 274 0 0 0.003610 0 0 KCNA1 3736 broad.mit.edu 37 12 5021334 5021334 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:5021334C>T ENST00000382545.3 + 2 1897 c.790C>T c.(790-792)Cct>Tct p.P264S KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 264 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGCCATCATTCCTTATTTCAT 0.547000 38 46 0 0 0.008740 0 0 C1orf43 25912 broad.mit.edu 37 1 154180059 154180059 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:154180059G>A ENST00000368521.5 - 7 830 c.632C>T c.(631-633)tCc>tTc p.S211F C1orf43_ENST00000362076.4_Missense_Mutation_p.S159F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S193F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S177F|C1orf43_ENST00000483282.1_5'UTR NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 211 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) GACCTCAGGGGACTGAGTTAG 0.502000 34 207 0 0 0.004289 0 0 SP140L 93349 broad.mit.edu 37 2 231256831 231256831 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:231256831G>A ENST00000243810.6 + 12 994 c.994G>A c.(994-996)Gat>Aat p.D332N SP140L_ENST00000396563.4_Missense_Mutation_p.D297N|SP140L_ENST00000444636.1_Missense_Mutation_p.D332N|SP140L_ENST00000415673.2_Missense_Mutation_p.D332N Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 332 SAND. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 ACAGACTGAGGATGGAAAATG 0.527000 69 24 0 0 0.003610 0 0 KIAA0319 9856 broad.mit.edu 37 6 24581172 24581172 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:24581172T>G ENST00000535378.1 - 8 1876 c.1234A>C c.(1234-1236)Aat>Cat p.N412H KIAA0319_ENST00000537886.1_Missense_Mutation_p.N421H|KIAA0319_ENST00000430948.2_Missense_Mutation_p.N376H|KIAA0319_ENST00000543707.1_Missense_Mutation_p.N421H|KIAA0319_ENST00000378214.3_Missense_Mutation_p.N421H NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 421 PKD 1. 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 ACAGTGACATTGACAAATCCT 0.393000 OREG0017229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 200 0 0 0.003610 0 0 ZNF677 342926 broad.mit.edu 37 19 53741297 53741297 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:53741297G>A ENST00000333952.4 - 5 848 c.683C>T c.(682-684)cCa>cTa p.P228L ZNF677_ENST00000598513.1_Missense_Mutation_p.P228L Q86XU0 ZN677_HUMAN zinc finger protein 677 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AGGAGGAAGTGGTGAAACTGA 0.353000 21 23 0 0 0.008871 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141470 63141470 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:63141470C>T ENST00000279178.3 + 4 1015 c.766C>T c.(766-768)Cga>Tga p.R256* SLC22A9_ENST00000310969.4_Missense_Mutation_p.S204L NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 256 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTTTGCCATTCGAGACTGGCA 0.463000 22 30 0 0 0.002299 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174737 150174737 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150174737G>A ENST00000307271.3 + 5 2441 c.1867G>A c.(1867-1869)Gat>Aat p.D623N NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 623 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AAAGGTCAATGATCTGAGAAA 0.438000 43 77 0 0 0.002222 0 0 WRNIP1 56897 broad.mit.edu 37 6 2770558 2770558 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:2770558A>G ENST00000380769.4 + 3 790 c.559A>G c.(559-561)Act>Gct p.T187A WRNIP1_ENST00000380764.1_Missense_Mutation_p.T23A|WRNIP1_ENST00000380771.4_Missense_Mutation_p.T382A|WRNIP1_ENST00000380773.4_Missense_Mutation_p.T407A Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 407 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TAGCCGTCCCACTGACCCTCT 0.552000 33 55 0 0 0.002836 0 0 DTNBP1 84062 broad.mit.edu 37 6 15533578 15533578 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:15533578G>A ENST00000338950.5 - 8 665 c.560C>T c.(559-561)aCc>aTc p.T187I DTNBP1_ENST00000344537.5_Missense_Mutation_p.T187I|DTNBP1_ENST00000355917.3_Missense_Mutation_p.T188I|DTNBP1_ENST00000462989.2_Missense_Mutation_p.T31I NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 187 Dysbindin. actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) CATTTGCTGGGTGTGCTCCAT 0.517000 Hermansky-Pudlak syndrome 71 275 0 0 0.003610 0 0 URB2 9816 broad.mit.edu 37 1 229794933 229794933 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:229794933C>T ENST00000258243.2 + 10 4600 c.4464C>T c.(4462-4464)ttC>ttT p.F1488F NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1488 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 ACGTCCAGTTCCTGCGGGCCT 0.502000 128 174 0 0 0.003610 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69334627 69334627 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:69334627A>T ENST00000305363.4 + 4 353 c.289A>T c.(289-291)Agg>Tgg p.R97W NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 97 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 ATCTCCATTAAGGGAAGAATT 0.303000 49 124 0 0 0.003610 0 0 CCDC102A 92922 broad.mit.edu 37 16 57546746 57546746 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:57546746C>T ENST00000258214.2 - 9 1806 c.1560G>A c.(1558-1560)ggG>ggA p.G520G NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 520 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 TGCGGATCTTCCCGAAGAGGG 0.637000 29 50 0 0 0.008361 0 0 FCGR2B 2213 broad.mit.edu 37 1 161642805 161642805 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:161642805G>A ENST00000367962.4 + 4 559 c.432G>A c.(430-432)gaG>gaA p.E144E FCGR2B_ENST00000403078.3_Silent_p.E144E|FCGR2B_ENST00000367960.5_Silent_p.E137E|FCGR2B_ENST00000236937.9_Silent_p.E144E|FCGR2B_ENST00000358671.5_Silent_p.E144E|FCGR2B_ENST00000428605.2_Silent_p.E144E|FCGR2B_ENST00000367961.4_Silent_p.E137E|RP11-25K21.1_ENST00000453111.1_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 144 Ig-like C2-type 2. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 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) AGTTCCAGGAGGGAGAAACCA 0.547000 T ? ALL 8 19 0 0 0.001855 0 0 FBN1 2200 broad.mit.edu 37 15 48719795 48719795 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:48719795G>A ENST00000316623.5 - 58 7628 c.7173C>T c.(7171-7173)ccC>ccT p.P2391P NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2391 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTCGGCCATGGGGACAGAGTT 0.473000 29 51 0 0 0.003271 0 0 SGCZ 137868 broad.mit.edu 37 8 13965682 13965682 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:13965682G>A ENST00000382080.1 - 6 1325 c.610C>T c.(610-612)Caa>Taa p.Q204* SGCZ_ENST00000421524.2_Nonsense_Mutation_p.Q157* NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 191 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.Q204K(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGAGATCTTGGGATGGCTCT 0.438000 25 46 0 0 0.007291 0 0 FLG 2312 broad.mit.edu 37 1 152283696 152283696 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152283696C>T ENST00000368799.1 - 3 3701 c.3666G>A c.(3664-3666)aaG>aaA p.K1222K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1222 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTGTTTGTCCTTACGAGTTT 0.567000 Ichthyosis 204 293 0 0 0.003610 0 0 FLG2 388698 broad.mit.edu 37 1 152329887 152329887 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152329887A>G ENST00000388718.5 - 3 447 c.375T>C c.(373-375)caT>caC p.H125H FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 125 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AACCTGATTTATGTCCTGGTG 0.458000 53 240 0 0 0.003610 0 0 SLC6A9 6536 broad.mit.edu 37 1 44468560 44468560 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:44468560G>A ENST00000372310.3 - 6 853 c.688C>T c.(688-690)Ctc>Ttc p.L230F SLC6A9_ENST00000372307.3_Missense_Mutation_p.L165F|SLC6A9_ENST00000372306.3_Missense_Mutation_p.L230F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L249F|SLC6A9_ENST00000537678.1_Missense_Mutation_p.L165F|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L303F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L119F NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 303 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) ATGAGGCAGAGGAAGACGACC 0.602000 50 110 0 0 0.003610 0 0 ABCC12 94160 broad.mit.edu 37 16 48173146 48173146 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:48173146C>T ENST00000311303.3 - 5 1104 c.759G>A c.(757-759)gcG>gcA p.A253A ABCC12_ENST00000448542.1_Silent_p.A253A|ABCC12_ENST00000416054.1_Silent_p.A253A NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 253 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) AAAAGGCGTACGCCGCACAAA 0.473000 33 48 0 0 0.002096 0 0 CETN1 1068 broad.mit.edu 37 18 580612 580612 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:580612G>A ENST00000327228.3 + 1 246 c.204G>A c.(202-204)gaG>gaA p.E68E NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 68 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGAAGGAAGAGATGAAGAAAA 0.552000 13 22 0 0 0.001368 0 0 MACC1 346389 broad.mit.edu 37 7 20197851 20197851 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:20197851C>T ENST00000400331.5 - 5 2441 c.2133G>A c.(2131-2133)agG>agA p.R711R MACC1_ENST00000332878.4_Silent_p.R711R|MACC1_ENST00000589011.1_Silent_p.R711R NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 711 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 ACAGAAACTTCCTTGTATTTC 0.318000 71 54 0 0 0.003610 0 0 SLC9C1 285335 broad.mit.edu 37 3 111887770 111887770 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:111887770C>T ENST00000305815.5 - 25 3443 c.3191G>A c.(3190-3192)cGa>cAa p.R1064Q SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1064 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity p.R1064Q(1) ATAAGTTTTTCGTAACAGACA 0.323000 34 32 0 0 0.008740 0 0 DOCK8 81704 broad.mit.edu 37 9 446428 446428 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:446428G>A ENST00000432829.2 + 44 5751 c.5435G>A c.(5434-5436)aGg>aAg p.R1812K DOCK8_ENST00000469391.1_Missense_Mutation_p.R1780K|DOCK8_ENST00000382329.1_Missense_Mutation_p.R1347K|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1880K NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1880 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATGAAAGACAGGGTCACATAC 0.517000 48 102 0 0 0.003610 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128600 55128600 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:55128600C>T ENST00000370862.3 + 4 1078 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 248 feeding behavior integral to plasma membrane neuropeptide receptor activity p.R248C(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCAAATATTTCGCAAACTCTG 0.373000 10 20 0 0 0.000978 0 0 SNTG2 54221 broad.mit.edu 37 2 1133456 1133456 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:1133456T>C ENST00000308624.5 + 6 501 c.372T>C c.(370-372)gtT>gtC p.V124V SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 124 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CTGTTCAGGTTAATGGCATAC 0.269000 46 31 0 0 0.003610 0 0 TDRD5 163589 broad.mit.edu 37 1 179562664 179562664 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:179562664G>A ENST00000444136.1 + 3 552 c.302G>A c.(301-303)cGa>cAa p.R101Q TDRD5_ENST00000294848.8_Missense_Mutation_p.R101Q|TDRD5_ENST00000367614.1_Missense_Mutation_p.R101Q NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 101 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CATAAGCTTCGAAACTCAATG 0.433000 8 57 0 0 0.004482 0 0 AMPD3 272 broad.mit.edu 37 11 10506423 10506423 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:10506423C>T ENST00000444303.2 + 4 641 c.169C>T c.(169-171)Ccc>Tcc p.P57S AMPD3_ENST00000396554.3_Missense_Mutation_p.P225S NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 216 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGATGCACCCCCCAACCTGGA 0.567000 40 60 0 0 0.003214 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533196 47533196 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:47533196C>T ENST00000334194.3 + 1 37 c.34C>T c.(34-36)Cac>Tac p.H12Y NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 12 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ACTCATGGCTCACCCCTTCTT 0.547000 8 19 0 0 0.003080 0 0 ZIM3 114026 broad.mit.edu 37 19 57646872 57646872 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:57646872G>A ENST00000269834.1 - 5 1218 c.833C>T c.(832-834)tCc>tTc p.S278F NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACACTGATAGGATTTCTTGGC 0.373000 50 74 0 0 0.003610 0 0 CLTC 1213 broad.mit.edu 37 17 57754377 57754377 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:57754377C>T ENST00000269122.3 + 17 2898 c.2624C>T c.(2623-2625)aCt>aTt p.T875I CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000393043.1_Missense_Mutation_p.T875I NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 875 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GAGCCTGCTACTCACAATGCC 0.433000 T """ALK, TFE3""" """ALCL, renal """ 16 41 0 0 0.004990 0 0 ACAP3 116983 broad.mit.edu 37 1 1237424 1237424 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:1237424G>A ENST00000354700.5 - 5 484 c.282C>T c.(280-282)atC>atT p.I94I ACAP3_ENST00000353662.3_Silent_p.I52I NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 94 I -> N (in Ref. 5; AAH51194). filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GGTCAAACAGGATCTGGGGGC 0.652000 29 64 0 0 0.004878 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871470 20871470 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:20871470G>A ENST00000324344.3 - 3 938 c.653C>T c.(652-654)cCt>cTt p.P218L DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P218L|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 218 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) CAATACCGGAGGATTGTTCTG 0.498000 59 112 0 0 0.003610 0 0 KALRN 8997 broad.mit.edu 37 3 124174098 124174098 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:124174098G>A ENST00000360013.3 + 22 3748 c.3621G>A c.(3619-3621)acG>acA p.T1207T KALRN_ENST00000460856.1_Silent_p.T1198T|KALRN_ENST00000240874.3_Silent_p.T1207T NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1207 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.T1207T(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTCATGCCACGGAGATAAGGA 0.488000 31 34 0 0 0.008361 0 0 ZNF311 282890 broad.mit.edu 37 6 28963462 28963462 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:28963462C>T ENST00000377179.3 - 7 1829 c.1317G>A c.(1315-1317)cgG>cgA p.R439R ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 AGTGTTTCTCCCGAGTATGGA 0.488000 32 85 0 0 0.004289 0 0 SPTLC3 55304 broad.mit.edu 37 20 13134660 13134660 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:13134660A>G ENST00000399002.2 + 10 1564 c.1290A>G c.(1288-1290)agA>agG p.R430R SPTLC3_ENST00000378194.4_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 430 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GGCTGCAGAGAGTACAGCAAC 0.433000 26 63 0 0 0.001786 0 0 PEX6 5190 broad.mit.edu 37 6 42942632 42942632 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:42942632G>C ENST00000304611.8 - 2 1096 c.1027C>G c.(1027-1029)Cgg>Ggg p.R343G PEX6_ENST00000244546.4_Missense_Mutation_p.R343G NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 343 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TGAAAGTGCCGGTAAAGAACA 0.463000 37 120 0 0 0.002222 0 0 EVPL 2125 broad.mit.edu 37 17 74005097 74005097 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:74005097C>T ENST00000301607.3 - 22 4442 c.4189G>A c.(4189-4191)Gag>Aag p.E1397K EVPL_ENST00000586740.1_Missense_Mutation_p.E1419K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1397 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCCACCTCCTCATCCAGGCTC 0.697000 31 69 0 0 0.002836 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738691 102738691 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:102738691G>A ENST00000210633.3 + 7 807 c.729G>A c.(727-729)acG>acA p.T243T SEMA4G_ENST00000370250.4_Silent_p.T243T|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.T243T|MRPL43_ENST00000318325.2_3'UTR Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 243 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) ACTTCTTCACGGAGCGTGCCA 0.607000 17 12 0 0 0.008871 0 0 OR4K1 79544 broad.mit.edu 37 14 20404572 20404572 + Silent SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:20404572T>A ENST00000285600.4 + 1 806 c.747T>A c.(745-747)ctT>ctA p.L249L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGGTCATTCTTTTCTTCGGGC 0.428000 25 92 0 0 0.003954 0 0 TREML4 285852 broad.mit.edu 37 6 41196694 41196694 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:41196694T>G ENST00000341495.2 + 2 410 c.306T>G c.(304-306)aaT>aaG p.N102K TREML4_ENST00000448827.2_Missense_Mutation_p.N102K NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 102 Ig-like V-type. extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) TGACACAGAATGACTCGGGAT 0.473000 33 77 0 0 0.002445 0 0 HTRA1 5654 broad.mit.edu 37 10 124248988 124248988 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:124248988T>C ENST00000368984.3 + 3 751 c.623T>C c.(622-624)aTt>aCt p.I208T NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 208 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TCTGGGTTTATTGTGTCGGAA 0.488000 42 45 0 0 0.003214 0 0 VSIG2 23584 broad.mit.edu 37 11 124619748 124619748 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:124619748G>A ENST00000403470.1 - 4 497 c.442C>T c.(442-444)Ccc>Tcc p.P148S VSIG2_ENST00000326621.5_Missense_Mutation_p.P148S Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 148 Ig-like C2-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) CTGCATAAGGGATTACTGGGG 0.478000 21 23 0 0 0.008871 0 0 GML 2765 broad.mit.edu 37 8 143922605 143922605 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:143922605C>T ENST00000220940.1 + 3 235 c.145C>T c.(145-147)Ccg>Tcg p.P49S NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 49 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TAGAGTATGTCCGTATCATAT 0.453000 8 62 0 0 0.004482 0 0 TENM3 55714 broad.mit.edu 37 4 183713577 183713577 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:183713577C>T ENST00000511685.1 + 26 5875 c.5752C>T c.(5752-5754)Ccg>Tcg p.P1918S TENM3_ENST00000406950.2_Missense_Mutation_p.P1918S teneurin transmembrane protein 3 ATACAACCCCCCGGAAAGCAA 0.532000 17 46 0 0 0.001523 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16823227 16823227 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:16823227G>A ENST00000355661.3 - 16 2305 c.2295C>T c.(2293-2295)tcC>tcT p.S765S PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.S765S|PLEKHA7_ENST00000448080.2_Silent_p.S765S Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 765 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGGACTCTCTGGAGAGCTCAG 0.572000 10 25 0 0 0.008291 0 0 SOX30 11063 broad.mit.edu 37 5 157065624 157065624 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:157065624C>T ENST00000265007.6 - 4 1835 c.1494G>A c.(1492-1494)caG>caA p.Q498Q SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Silent_p.Q193Q NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 498 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACTTGGATCCTGGACAGCCA 0.577000 4 25 0 0 0.000602 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559291 129559291 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:129559291C>T ENST00000422113.2 - 9 2755 c.2429G>A c.(2428-2430)aGa>aAa p.R810K TMEM132D_ENST00000389441.4_Missense_Mutation_p.R348K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 810 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCCTGTGTGTCTGCTGTCACT 0.498000 47 76 0 0 0.003610 0 0 CYP2D7 1564 broad.mit.edu 37 22 42536661 42536661 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:42536661G>A ENST00000435101.1 - 0 342 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CTTCCAGACGGCCTCATCCTT 0.607000 8 5 0 0 0.004482 0 0 CYP4B1 1580 broad.mit.edu 37 1 47264903 47264903 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:47264903C>T ENST00000271153.4 + 1 186 c.150C>T c.(148-150)ccC>ccT p.P50P CYP4B1_ENST00000371919.4_Silent_p.P50P|CYP4B1_ENST00000371923.4_Silent_p.P50P|CYP4B1_ENST00000546128.1_Intron P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 50 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CAGGGCCTCCCACCCACTGGC 0.547000 4 11 0 0 0.000248 0 0 PDP1 54704 broad.mit.edu 37 8 94935031 94935031 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:94935031C>T ENST00000396200.3 + 3 1095 c.819C>T c.(817-819)tcC>tcT p.S273S PDP1_ENST00000517764.1_Silent_p.S248S|PDP1_ENST00000297598.4_Silent_p.S248S|PDP1_ENST00000520728.1_Silent_p.S248S NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 248 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 ATGACATCTCCTTGGAGGCGC 0.468000 32 81 0 0 0.003755 0 0 MUSK 4593 broad.mit.edu 37 9 113444971 113444971 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:113444971C>T ENST00000416899.2 + 2 223 c.97C>T c.(97-99)Cct>Tct p.P33S MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.P33S|MUSK_ENST00000374448.4_Missense_Mutation_p.P33S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 33 Ig-like 1. 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 CATCACCACTCCTCTTGAAAC 0.413000 47 60 0 0 0.003610 0 0 SCYL3 57147 broad.mit.edu 37 1 169833638 169833638 + Missense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:169833638T>A ENST00000367772.4 - 9 1024 c.827A>T c.(826-828)gAc>gTc p.D276V SCYL3_ENST00000367770.1_Missense_Mutation_p.D276V|SCYL3_ENST00000367771.5_Missense_Mutation_p.D276V|SCYL3_ENST00000470238.1_5'UTR NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 276 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTGACTCTGTCCAGCAGAAA 0.458000 36 52 0 0 0.003271 0 0 CYFIP1 23191 broad.mit.edu 37 15 22940812 22940812 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:22940812C>T ENST00000313077.7 + 11 1202 c.1077C>T c.(1075-1077)ttC>ttT p.F359F CYFIP1_ENST00000560848.1_Silent_p.F359F NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 359 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ACATGCGCTTCATTTCGGAGC 0.607000 12 24 0 0 0.002450 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069442 6069442 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:6069442G>A ENST00000381095.3 - 2 693 c.66C>T c.(64-66)aaC>aaT p.N22N NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Silent_p.N22N|NLGN4X_ENST00000538097.1_Silent_p.N22N|NLGN4X_ENST00000381093.2_Silent_p.N22N|NLGN4X_ENST00000275857.6_Silent_p.N22N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 22 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGACATTGGAGTTTAACATGA 0.493000 18 21 0 0 0.007413 0 0 CCDC60 160777 broad.mit.edu 37 12 119957997 119957997 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:119957997G>A ENST00000327554.2 + 9 1505 c.1040_splice c.e9+1 p.S347_splice RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 347 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CTCAAATCAAGGTAGGAAAGC 0.507000 43 92 0 0 0.008740 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956018 18956018 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:18956018G>A ENST00000302797.3 - 1 538 c.314C>T c.(313-315)tCc>tTc p.S105F MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 105 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGCAAAGTAGGAAAACATCAT 0.547000 45 257 0 0 0.003610 0 0 OR2J3 442186 broad.mit.edu 37 6 29080253 29080253 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:29080253C>T ENST00000377169.1 + 1 586 c.586C>T c.(586-588)Cat>Tat p.H196Y NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TGTTGATACCCATGTCAATGA 0.463000 23 77 0 0 0.002299 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030311 95030311 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:95030311G>A ENST00000557004.1 + 2 913 c.492G>A c.(490-492)gaG>gaA p.E164E SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.E164E|SERPINA4_ENST00000298841.5_Silent_p.E164E P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 164 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCGTCTATGAGGCTAAACTCT 0.517000 40 29 0 0 0.002222 0 0 POU6F2 11281 broad.mit.edu 37 7 39379268 39379268 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:39379268A>C ENST00000518318.2 + 5 581 c.539A>C c.(538-540)cAg>cCg p.Q180P POU6F2_ENST00000559001.1_Missense_Mutation_p.Q172P|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q180P P78424 PO6F2_HUMAN POU class 6 homeobox 2 180 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TCCCAGCTCcagcagctccag 0.602000 9 36 0 0 0.008291 0 0 NGFR 4804 broad.mit.edu 37 17 47579543 47579543 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:47579543C>T ENST00000172229.3 + 2 310 c.185C>T c.(184-186)aCc>aTc p.T62I NGFR_ENST00000504201.1_5'UTR NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 62 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GCCAACCAGACCGTGTGTGAG 0.652000 23 42 0 0 0.002780 0 0 TRIM37 4591 broad.mit.edu 37 17 57093067 57093067 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:57093067T>C ENST00000376149.3 - 21 2923 c.2114A>G c.(2113-2115)gAc>gGc p.D705G TRIM37_ENST00000393066.3_Missense_Mutation_p.D827G|TRIM37_ENST00000393065.2_Missense_Mutation_p.D793G|TRIM37_ENST00000262294.7_Missense_Mutation_p.D827G O94972 TRI37_HUMAN tripartite motif containing 37 827 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ACACTGCCGGTCTTCAGTTTT 0.502000 Mulibrey Nanism 51 73 0 0 0.003610 0 0 SLC22A10 387775 broad.mit.edu 37 11 63065199 63065199 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:63065199G>A ENST00000544661.1 + 5 793 c.365_splice c.e5+1 p.R122_splice SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000332793.6_Splice_Site_p.R277_splice|SLC22A10_ENST00000535888.1_Splice_Site_p.R67_splice Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 277 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTCTTTCAAGGTAGGAGCTT 0.443000 32 39 0 0 0.002096 0 0 CRP 1401 broad.mit.edu 37 1 159683467 159683467 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:159683467C>T ENST00000255030.5 - 2 626 c.523G>A c.(523-525)Gga>Aga p.G175R CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000437342.1_5'UTR NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 175 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) TTCACATTTCCAATGTCTCCC 0.532000 78 279 0 0 0.003610 0 0 NEFM 4741 broad.mit.edu 37 8 24775820 24775820 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:24775820G>A ENST00000221166.5 + 3 3234 c.2452G>A c.(2452-2454)Gaa>Aaa p.E818K NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E442K|NEFM_ENST00000437366.2_Missense_Mutation_p.E779K|NEFM_ENST00000518131.1_Missense_Mutation_p.E600K P07197 NFM_HUMAN neurofilament, medium polypeptide 818 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ggagaccaaggaaaaaggcag 0.512000 5 9 0 0 0.000602 0 0 TRAT1 50852 broad.mit.edu 37 3 108572544 108572544 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:108572544G>A ENST00000295756.6 + 6 611 c.381G>A c.(379-381)caG>caA p.Q127Q TRAT1_ENST00000426646.1_Silent_p.Q90Q NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 127 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 CCAGGAAACAGAATACTCATT 0.443000 14 18 0 0 0.001855 0 0 NRP1 8829 broad.mit.edu 37 10 33515180 33515180 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:33515180C>T ENST00000265371.4 - 8 1544 c.1019G>A c.(1018-1020)gGg>gAg p.G340E NRP1_ENST00000374823.5_Missense_Mutation_p.G340E|NRP1_ENST00000374867.2_Missense_Mutation_p.G340E|NRP1_ENST00000374816.3_Missense_Mutation_p.G340E|NRP1_ENST00000374821.5_Missense_Mutation_p.G340E|NRP1_ENST00000374822.4_Missense_Mutation_p.G340E|NRP1_ENST00000395995.1_Missense_Mutation_p.G340E O14786 NRP1_HUMAN neuropilin 1 340 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GCCCTGTGTCCCGACAGCCGT 0.488000 16 25 0 0 0.004007 0 0 LASP1 3927 broad.mit.edu 37 17 37046722 37046722 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:37046722C>T ENST00000318008.6 + 3 545 c.214C>T c.(214-216)Ctt>Ttt p.L72F LASP1_ENST00000433206.2_Intron|LASP1_ENST00000435347.3_Missense_Mutation_p.L72F NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 72 cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 CCCGGAAAACCTTCGCCTCAA 0.622000 T MLL AML 19 68 0 0 0.001882 0 0 TLR8 51311 broad.mit.edu 37 X 12939092 12939092 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:12939092G>A ENST00000218032.6 + 2 2020 c.1933G>A c.(1933-1935)Gat>Aat p.D645N TLR8_ENST00000311912.5_Missense_Mutation_p.D663N NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 645 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GACACGTCTGGATTTATCCCT 0.368000 24 14 0 0 0.003954 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657540 72657540 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:72657540C>T ENST00000425256.1 - 0 2371 NR_002164.1 cattgcaggtcgataacctcc 0.502000 65 139 0 0 0.003610 0 0 MAMDC2 256691 broad.mit.edu 37 9 72758574 72758574 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:72758574C>T ENST00000377182.4 + 9 1860 c.1243C>T c.(1243-1245)Cat>Tat p.H415Y MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 415 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TCTGCGTTTTCATTATGCCAT 0.438000 22 38 0 0 0.002780 0 0 FOCAD 54914 broad.mit.edu 37 9 20990162 20990162 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:20990162T>C ENST00000380249.1 + 44 5409 c.5045T>C c.(5044-5046)gTt>gCt p.V1682A FOCAD_ENST00000338382.6_Missense_Mutation_p.V1682A|FOCAD_ENST00000605086.1_Missense_Mutation_p.V1118A NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1682 integral to membrane binding ACCGCAGTGGTTGCATGGGCT 0.493000 29 53 0 0 0.001786 0 0 TEX33 339669 broad.mit.edu 37 22 37395952 37395952 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:37395952G>A ENST00000405091.2 - 5 814 c.563C>T c.(562-564)cCt>cTt p.P188L TEX33_ENST00000402860.3_Missense_Mutation_p.P103L|TEX33_ENST00000381821.1_Missense_Mutation_p.P188L O43247 EAN57_HUMAN testis expressed 33 188 GATTTCCACAGGATTCTGGGT 0.542000 32 51 0 0 0.003271 0 0 CFHR5 81494 broad.mit.edu 37 1 196973903 196973903 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:196973903C>T ENST00000367414.5 + 9 1571 c.1515C>T c.(1513-1515)ttC>ttT p.F505F CFHR5_ENST00000256785.4_Silent_p.F481F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 481 Sushi 8. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GCCAGTCCTTCTATAAACTCC 0.443000 51 61 0 0 0.003610 0 0 OR8A1 390275 broad.mit.edu 37 11 124440898 124440898 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:124440898G>A ENST00000284287.3 + 1 1006 c.934G>A c.(934-936)Gaa>Aaa p.E312K NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GAGGAACAAGGAAGTAAAGGC 0.433000 7 28 0 0 0.003080 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438185 204438185 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:204438185A>C ENST00000367187.3 - 3 1302 c.746T>G c.(745-747)tTg>tGg p.L249W PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L249W NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 249 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCATCCCGCAACATCTCCGC 0.577000 91 390 0 0 0.003610 0 0 REXO1L1 254958 broad.mit.edu 37 8 86574497 86574497 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:86574497G>A ENST00000379010.2 - 1 1229 c.1230C>T c.(1228-1230)tcC>tcT p.S410S NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 410 GOR1-125 epitope. cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 AGACCCTACAGGAGGAGTCGC 0.672000 7 19 0 0 0.003080 0 0 RASSF3 283349 broad.mit.edu 37 12 65088588 65088588 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:65088588T>C ENST00000542104.1 + 5 733 c.613T>C c.(613-615)Ttg>Ctg p.L205L RASSF3_ENST00000336061.2_Silent_p.L205L NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 205 SARAH. signal transduction cytoplasm|microtubule identical protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) CTTGCGCATCTTGGACAAGGA 0.478000 23 46 0 0 0.003330 0 0 LRFN2 57497 broad.mit.edu 37 6 40400562 40400562 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:40400562C>T ENST00000338305.6 - 2 833 c.291G>A c.(289-291)ctG>ctA p.L97L NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 97 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCTCGAGGTCCAGAAAGGAAA 0.607000 23 52 0 0 0.003330 0 0 TMC5 79838 broad.mit.edu 37 16 19460909 19460909 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:19460909G>A ENST00000396229.2 + 5 1753 c.1004G>A c.(1003-1005)gGa>gAa p.G335E TMC5_ENST00000541464.1_Missense_Mutation_p.G335E|TMC5_ENST00000542583.2_Missense_Mutation_p.G335E|TMC5_ENST00000381414.4_Missense_Mutation_p.G335E NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 335 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CATGCTTATGGAAACCCACCA 0.463000 50 102 0 0 0.003610 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812060 30812060 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:30812060C>T ENST00000312932.9 + 10 1155 c.895C>T c.(895-897)Cct>Tct p.P299S SEC14L2_ENST00000402592.3_Missense_Mutation_p.P216S|SEC14L2_ENST00000405717.3_Missense_Mutation_p.P299S|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.P133S|SEC14L2_ENST00000403484.1_Missense_Mutation_p.P225S NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 299 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) GATCCTCTTCCCTGGCTGTGT 0.557000 34 89 0 0 0.006999 0 0 PRB2 653247 broad.mit.edu 37 12 11546774 11546774 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:11546774C>T ENST00000389362.4 - 3 273 c.238G>A c.(238-240)Gga>Aga p.G80R PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGGTGGTCCTTGTGGCTTT 0.612000 88 213 0 0 0.003610 0 0 OR51T1 401665 broad.mit.edu 37 11 4903722 4903722 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4903722G>A ENST00000380378.1 + 1 674 c.674G>A c.(673-675)aGt>aAt p.S225N MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S198N|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGATCAGCAGTTTTTGGGGA 0.438000 40 85 0 0 0.002222 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150028134 150028134 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150028134C>T ENST00000343855.4 + 1 1197 c.641C>T c.(640-642)gCt>gTt p.A214V LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GACCCCCTGGCTTACTGGGAG 0.577000 6 31 0 0 0.001168 0 0 CAPN12 147968 broad.mit.edu 37 19 39228929 39228929 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:39228929C>T ENST00000328867.4 - 8 1257 c.949G>A c.(949-951)Gag>Aag p.E317K CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.E168K NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 317 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TCGCCATCCTCCTTTTTCACC 0.652000 12 22 0 0 0.002450 0 0 RYR1 6261 broad.mit.edu 37 19 38979973 38979973 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38979973G>A ENST00000355481.4 + 35 5835 c.5704G>A c.(5704-5706)Gaa>Aaa p.E1902K RYR1_ENST00000359596.3_Missense_Mutation_p.E1902K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1902K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1902 6 X approximate repeats.|Glu-rich (acidic). 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) aacagcacaggaaaaggaaga 0.522000 13 25 0 0 0.001855 0 0 APOB 338 broad.mit.edu 37 2 21224685 21224685 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:21224685C>T ENST00000233242.1 - 29 13736 c.13609G>A c.(13609-13611)Gag>Aag p.E4537K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4537 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) TTCAGTAACTCCGTGATGTAT 0.358000 436 228 0 0 0.003610 0 0 SPINK5 11005 broad.mit.edu 37 5 147469129 147469129 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:147469129C>T ENST00000359874.3 + 7 620 c.547C>T c.(547-549)Ctt>Ttt p.L183F SPINK5_ENST00000398454.1_Missense_Mutation_p.L183F|SPINK5_ENST00000256084.7_Missense_Mutation_p.L183F NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 183 Kazal-like 3. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCCTGTTCTTGGTCCTGA 0.463000 41 37 0 0 0.002222 0 0 ZNF292 23036 broad.mit.edu 37 6 87970318 87970318 + Missense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:87970318G>T ENST00000369577.3 + 8 7014 c.6971G>T c.(6970-6972)gGa>gTa p.G2324V ZNF292_ENST00000339907.4_Missense_Mutation_p.G2319V NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGCAGATGTGGAAAGGAAGGA 0.373000 14 27 3.27435e-08 3.92883e-08 0.002450 1 0 AIM2 9447 broad.mit.edu 37 1 159033386 159033386 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:159033386C>T ENST00000368130.4 - 5 1183 c.895G>A c.(895-897)Gag>Aag p.E299K AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 299 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) ATTGTGTCCTCGTTTCTAACC 0.368000 49 244 0 0 0.003610 0 0 EPHA7 2045 broad.mit.edu 37 6 93965744 93965744 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:93965744C>T ENST00000369303.4 - 13 2368 c.2184G>A c.(2182-2184)ggG>ggA p.G728G NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 728 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) CTGTAAATTGCCCATCATGTT 0.398000 10 47 0 0 0.001368 0 0 NELFA 7469 broad.mit.edu 37 4 2010585 2010585 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:2010585C>T ENST00000382882.3 - 1 1252 c.135G>A c.(133-135)acG>acA p.T45T NELFA_ENST00000411638.1_Silent_p.T34T|NELFA_ENST00000542778.1_5'UTR NM_005663.4 NP_005654.3 negative elongation factor complex member A TGACCGCGGCCGTGAGCAGGG 0.682000 7 18 0 0 0.001984 0 0 FYB 2533 broad.mit.edu 37 5 39202935 39202935 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:39202935C>T ENST00000351578.6 - 2 318 c.128G>A c.(127-129)gGa>gAa p.G43E FYB_ENST00000540520.1_Missense_Mutation_p.G53E|FYB_ENST00000512982.1_Missense_Mutation_p.G43E|FYB_ENST00000505428.1_Missense_Mutation_p.G43E|FYB_ENST00000515010.1_Missense_Mutation_p.G43E NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 43 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GCTGGCATTTCCTTGGTTGTT 0.498000 28 20 0 0 0.006320 0 0 BTAF1 9044 broad.mit.edu 37 10 93773459 93773459 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:93773459C>T ENST00000265990.6 + 31 4655 c.4347C>T c.(4345-4347)ttC>ttT p.F1449F BTAF1_ENST00000544642.1_Silent_p.F277F NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1449 Helicase ATP-binding. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TATTTGATTTCCTCATGCCAG 0.403000 22 26 0 0 0.002299 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51955768 51955768 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:51955768C>T ENST00000321424.3 - 7 1431 c.1365G>A c.(1363-1365)gtG>gtA p.V455V SIGLEC8_ENST00000430817.1_Silent_p.V346V|SIGLEC8_ENST00000340550.5_Silent_p.V362V NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 455 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCTGAGGCTTCACTTTATGGA 0.562000 27 51 0 0 0.007291 0 0 KRT76 51350 broad.mit.edu 37 12 53165697 53165697 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:53165697C>T ENST00000332411.2 - 6 1274 c.1221G>A c.(1219-1221)atG>atA p.M407I NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 407 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCCTCTGGATCATCCTGTTGA 0.557000 33 74 0 0 0.003271 0 0 CWF19L2 143884 broad.mit.edu 37 11 107224410 107224410 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:107224410G>A ENST00000282251.5 - 13 1952 c.1925C>T c.(1924-1926)tCc>tTc p.S642F CWF19L2_ENST00000433523.1_Missense_Mutation_p.S642F NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 642 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) AGCTGCTTTGGAGACAAACAT 0.398000 34 31 0 0 0.004878 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454897 187454897 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:187454897C>T ENST00000307161.5 - 2 1200 c.999G>A c.(997-999)tgG>tgA p.W333* RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 333 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GAGACGGTTTCCATTTAACCC 0.478000 51 87 0 0 0.003610 0 0 KCNH6 81033 broad.mit.edu 37 17 61613048 61613048 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:61613048C>T ENST00000583023.1 + 6 1131 c.1120C>T c.(1120-1122)Cta>Tta p.L374L KCNH6_ENST00000581784.1_Silent_p.L374L|KCNH6_ENST00000580652.1_Silent_p.L374L|KCNH6_ENST00000314672.5_Silent_p.L374L|KCNH6_ENST00000456941.2_Silent_p.L374L NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 374 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CCTGATTGGGCTATTGAAGAC 0.597000 21 30 0 0 0.002780 0 0 RABEP2 79874 broad.mit.edu 37 16 28925996 28925996 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:28925996G>A ENST00000358201.4 - 4 1128 c.540C>T c.(538-540)atC>atT p.I180I RABEP2_ENST00000544477.1_Silent_p.I109I|RABEP2_ENST00000357573.6_Silent_p.I180I NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 180 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCCTCACCTGGATCTCCTGAA 0.662000 31 82 0 0 0.003755 0 0 ZNF136 7695 broad.mit.edu 37 19 12298480 12298480 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:12298480C>T ENST00000343979.4 + 4 1427 c.1287C>T c.(1285-1287)ttC>ttT p.F429F ZNF136_ENST00000398616.2_Silent_p.F363F NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 429 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 GTAAAGCTTTCGTTTCTTCAA 0.383000 8 25 0 0 0.003080 0 0 TRIM21 6737 broad.mit.edu 37 11 4411334 4411334 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4411334G>A ENST00000254436.7 - 2 418 c.306C>T c.(304-306)ttC>ttT p.F102F TRIM21_ENST00000543625.1_Silent_p.F102F NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 102 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CTTTCTCACAGAACAGGTGAA 0.557000 29 36 0 0 0.007291 0 0 SERPING1 710 broad.mit.edu 37 11 57369508 57369508 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:57369508G>A ENST00000403558.1 + 3 1019 c.652_splice c.e3-1 p.G218_splice SERPING1_ENST00000378323.4_Splice_Site_p.G189_splice|SERPING1_ENST00000378324.2_Splice_Site_p.G132_splice|SERPING1_ENST00000340687.6_Splice_Site_p.G184_splice|SERPING1_ENST00000278407.4_Splice_Site_p.G184_splice NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 184 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TTTGTTGCAGGGGCTGGGGAG 0.557000 9 31 0 0 0.006214 0 0 TG 7038 broad.mit.edu 37 8 133882003 133882003 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:133882003C>T ENST00000220616.4 + 3 246 c.206C>T c.(205-207)tCc>tTc p.S69F TG_ENST00000377869.1_Missense_Mutation_p.S69F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 69 Thyroglobulin type-1 1. 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) GACGGCCGCTCCTGCTGGTGT 0.662000 19 65 0 0 0.008871 0 0 NAALAD2 10003 broad.mit.edu 37 11 89916124 89916124 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:89916124C>T ENST00000534061.1 + 18 2211 c.1981C>T c.(1981-1983)Ctg>Ttg p.L661L NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.L628L NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 661 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACTGATGCTCCTGGAAAGAGC 0.408000 46 108 0 0 0.003610 0 0 OR51L1 119682 broad.mit.edu 37 11 5021040 5021040 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5021040C>T ENST00000321543.1 + 1 828 c.828C>T c.(826-828)atC>atT p.I276I NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TAGTCCACATCCTCATGGCAG 0.458000 18 38 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179597678 179597678 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179597678C>T ENST00000589042.1 - 55 16449 c.16225G>A c.(16225-16227)Gaa>Aaa p.E5409K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E5092K|TTN_ENST00000342992.6_Missense_Mutation_p.E4165K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5092 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) GCTGTGCCTTCCACAAATGCT 0.483000 27 13 0 0 0.004656 0 0 CTSV 1515 broad.mit.edu 37 9 99798970 99798970 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:99798970G>A ENST00000259470.5 - 5 705 c.456C>T c.(454-456)ttC>ttT p.F152F CTSV_ENST00000538255.1_Silent_p.F152F NM_001333.3 NP_001324.2 cathepsin V CAGTTTTCCGGAACATCTGTC 0.473000 20 37 0 0 0.001523 0 0 CDH9 1007 broad.mit.edu 37 5 26881369 26881369 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:26881369G>A ENST00000231021.4 - 12 2418 c.2246C>T c.(2245-2247)tCg>tTg p.S749L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 749 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGAACTGAGCGAATCTGCTAT 0.443000 48 36 0 0 0.003610 0 0 DAAM2 23500 broad.mit.edu 37 6 39832259 39832259 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:39832259C>T ENST00000538976.1 + 4 491 c.309C>T c.(307-309)atC>atT p.I103I DAAM2_ENST00000398904.2_Silent_p.I103I|DAAM2_ENST00000274867.4_Silent_p.I103I|DAAM2_ENST00000494405.1_3'UTR NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 103 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) ACTATTACATCGACCGCATCA 0.607000 6 22 0 0 0.004482 0 0 PXDNL 137902 broad.mit.edu 37 8 52469449 52469449 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:52469449G>A ENST00000356297.4 - 4 431 c.331C>T c.(331-333)Cat>Tat p.H111Y PXDNL_ENST00000543296.1_Missense_Mutation_p.H111Y NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 111 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTAGTGCATGGATTTCATTC 0.274000 11 35 0 0 0.001368 0 0 TMC7 79905 broad.mit.edu 37 16 19020599 19020599 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:19020599C>T ENST00000304381.5 + 2 303 c.173C>T c.(172-174)tCc>tTc p.S58F TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.S58F NM_024847.3 NP_079123.3 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 58 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 ACTGTCCATTCCCGGGACAAG 0.517000 21 37 0 0 0.001882 0 0 GAS2 2620 broad.mit.edu 37 11 22747923 22747923 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:22747923C>T ENST00000454584.2 + 4 658 c.353C>T c.(352-354)tCc>tTc p.S118F GAS2_ENST00000278187.3_Missense_Mutation_p.S118F|GAS2_ENST00000433790.1_Missense_Mutation_p.S118F NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 118 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 AATTTCTTATCCTGGTGCCGA 0.393000 29 80 0 0 0.002836 0 0 RIOK1 83732 broad.mit.edu 37 6 7403060 7403060 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:7403060G>A ENST00000379834.2 + 8 1204 c.697G>A c.(697-699)Ggc>Agc p.G233S NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 233 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ATTTCGTCATGGCTATTGTAA 0.323000 16 61 0 0 0.004990 0 0 ZBTB16 7704 broad.mit.edu 37 11 114121187 114121187 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:114121187C>T ENST00000335953.4 + 7 2312 c.1932C>T c.(1930-1932)tcC>tcT p.S644S RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Silent_p.S644S|ZBTB16_ENST00000535379.1_3'UTR NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 644 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GCCTCTCCTCCATGCAGAAGC 0.607000 13 19 0 0 0.001368 0 0 GNA12 2768 broad.mit.edu 37 7 2771243 2771243 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:2771243G>A ENST00000275364.3 - 4 880 c.718C>T c.(718-720)Cag>Tag p.Q240* AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Nonsense_Mutation_p.Q92*|GNA12_ENST00000544127.1_Nonsense_Mutation_p.Q147*|GNA12_ENST00000407904.3_Nonsense_Mutation_p.Q181*|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407653.1_Nonsense_Mutation_p.Q164* NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 240 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TCGAAGCACTGGAACCACTTC 0.577000 113 90 0 0 0.003610 0 0 CDH15 1013 broad.mit.edu 37 16 89261465 89261465 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:89261465C>T ENST00000289746.2 + 14 2412 c.2347C>T c.(2347-2349)Ccg>Tcg p.P783S NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 783 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GTATGGGCACCCGTGCGGGTT 0.662000 14 37 0 0 0.002450 0 0 OR5D18 219438 broad.mit.edu 37 11 55587477 55587477 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:55587477C>T ENST00000333976.4 + 1 392 c.372C>T c.(370-372)ttC>ttT p.F124F NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 124 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) ATGACCGCTTCGTGGCCATTT 0.458000 37 117 0 0 0.006230 0 0 DMBT1 1755 broad.mit.edu 37 10 124390686 124390686 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:124390686C>T ENST00000368909.3 + 46 5954 c.5848C>T c.(5848-5850)Ctg>Ttg p.L1950L DMBT1_ENST00000330163.4_Silent_p.L1322L|DMBT1_ENST00000368956.2_Silent_p.L1322L|DMBT1_ENST00000359586.6_Silent_p.L670L|DMBT1_ENST00000338354.3_Silent_p.L1950L|DMBT1_ENST00000344338.3_Silent_p.L1940L|DMBT1_ENST00000368955.3_Silent_p.L1940L NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1950 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCCATCACCCTGGACGATGT 0.552000 38 28 0 0 0.006230 0 0 PRX 57716 broad.mit.edu 37 19 40902863 40902863 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:40902863G>A ENST00000324001.7 - 7 1666 c.1396C>T c.(1396-1398)Cca>Tca p.P466S PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 466 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCACCTCTGGGAGTCGAACC 0.597000 58 111 0 0 0.003610 0 0 LRP4 4038 broad.mit.edu 37 11 46916348 46916348 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:46916348G>A ENST00000378623.1 - 12 1574 c.1332C>T c.(1330-1332)ttC>ttT p.F444F NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 444 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity p.F444F(1) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TGCGATTGGCGAACAGCAGCA 0.562000 24 52 0 0 0.004656 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217297570 217297570 + Silent SNP C C T rs139469074 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:217297570C>T ENST00000357276.4 + 8 1794 c.1464C>T c.(1462-1464)tcC>tcT p.S488S SMARCAL1_ENST00000358207.5_Silent_p.S488S NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 488 Helicase ATP-binding. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TGCCATCCTCCGTGCGCTTCA 0.517000 Schimke Immuno-Osseous Dysplasia 72 48 0 0 0.003610 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11253759 11253759 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:11253759G>A ENST00000376819.3 + 3 839 c.600G>A c.(598-600)ggG>ggA p.G200G MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_3'UTR NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 200 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) GCATCCGTGGGGACTTCTGGC 0.602000 17 37 0 0 0.004990 0 0 SCN11A 11280 broad.mit.edu 37 3 38889207 38889207 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38889207G>A ENST00000450244.1 - 26 4552 c.4354C>T c.(4354-4356)Cag>Tag p.Q1452* SCN11A_ENST00000302328.3_Nonsense_Mutation_p.Q1452*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q1414* Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1452 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) ATGTGCTCCTGATTTTCCAAG 0.507000 13 24 0 0 0.002450 0 0 PAK7 57144 broad.mit.edu 37 20 9560815 9560815 + Missense_Mutation SNP C C T rs143654195 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:9560815C>T ENST00000378429.3 - 5 1513 c.967G>A c.(967-969)Gag>Aag p.E323K PAK7_ENST00000378423.1_Missense_Mutation_p.E323K|PAK7_ENST00000353224.5_Missense_Mutation_p.E323K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 323 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATTGTGGGCTCGGACAAGCGA 0.522000 72 181 0 0 0.003610 0 0 AMPD1 270 broad.mit.edu 37 1 115218587 115218587 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:115218587C>T ENST00000369538.3 - 10 1560 c.1513G>A c.(1513-1515)Gga>Aga p.G505R AMPD1_ENST00000353928.6_Missense_Mutation_p.G476R|AMPD1_ENST00000520113.2_Missense_Mutation_p.G509R NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 476 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) AGCATTTTTCCAAAATGTGGA 0.428000 73 73 0 0 0.003610 0 0 SERPINB3 6317 broad.mit.edu 37 18 61326699 61326699 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:61326699G>A ENST00000283752.5 - 4 428 c.285C>T c.(283-285)tcC>tcT p.S95S SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.S95S NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 95 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ATGCATCAGTGGATTTGTTGA 0.383000 42 106 0 0 0.008740 0 0 OR13C9 286362 broad.mit.edu 37 9 107379931 107379931 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:107379931C>T ENST00000259362.1 - 1 554 c.555G>A c.(553-555)atG>atA p.M185I NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 AGGCCAACTTCATGACAGCTA 0.408000 21 21 0 0 0.001523 0 0 FBLN1 2192 broad.mit.edu 37 22 45937138 45937138 + Missense_Mutation SNP C C T rs113064196 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:45937138C>T ENST00000348697.2 + 9 1099 c.952C>T c.(952-954)Ccg>Tcg p.P318S FBLN1_ENST00000340923.5_Missense_Mutation_p.P318S|FBLN1_ENST00000327858.6_Missense_Mutation_p.P318S|FBLN1_ENST00000262722.7_Missense_Mutation_p.P318S|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.P356S|FBLN1_ENST00000442170.2_Missense_Mutation_p.P318S P23142 FBLN1_HUMAN fibulin 1 318 EGF-like 4; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TATCAGTGCCCCGTGCCCTAT 0.532000 26 48 0 0 0.004656 0 0 TNR 7143 broad.mit.edu 37 1 175355282 175355282 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:175355282G>A ENST00000367674.1 - 8 2371 c.1663C>T c.(1663-1665)Ccc>Tcc p.P555S TNR_ENST00000263525.2_Missense_Mutation_p.P555S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 555 Fibronectin type-III 3. 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) TGGCTCAGGGGAGGCTGCAGC 0.607000 14 71 0 0 0.003163 0 0 RGPD3 653489 broad.mit.edu 37 2 107029659 107029659 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:107029659A>C ENST00000409886.3 - 22 5234 c.5147T>G c.(5146-5148)gTc>gGc p.V1716G RGPD3_ENST00000304514.7_Missense_Mutation_p.V1716G NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1716 GRIP. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTGCAGCAAGACGTTCTTCAA 0.408000 105 53 0 0 0.003610 0 0 ZBTB16 7704 broad.mit.edu 37 11 114027098 114027098 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:114027098C>T ENST00000335953.4 + 3 1688 c.1308C>T c.(1306-1308)ctC>ctT p.L436L ZBTB16_ENST00000392996.2_Silent_p.L436L NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 436 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GGTGCGAGCTCTGCGGGAAGC 0.557000 22 17 0 0 0.007291 0 0 PRB4 5545 broad.mit.edu 37 12 11461474 11461474 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:11461474C>T ENST00000279575.1 - 3 476 c.443G>A c.(442-444)gGa>gAa p.G148E PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G148E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 211 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 CTGGTTACCTCCTTGTGGGGG 0.607000 HNSCC(22;0.051) 74 199 0 0 0.003610 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424676 89424676 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:89424676C>T ENST00000532352.1 + 0 1839 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCGAGAGACTCCAGGACTTTG 0.274000 17 25 0 0 0.008871 0 0 ARID2 196528 broad.mit.edu 37 12 46230605 46230605 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:46230605G>A ENST00000334344.6 + 8 1026 c.854G>A c.(853-855)cGg>cAg p.R285Q ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R136Q NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 285 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R285Q(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GAAGGACAGCGGGTACTTCAG 0.403000 """N, S, F""" hepatocellular carcinoma 24 64 0 0 0.003954 0 0 NPPB 4879 broad.mit.edu 37 1 11918773 11918773 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:11918773T>C ENST00000376468.3 - 1 215 c.118A>G c.(118-120)Acg>Gcg p.T40A NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 40 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 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)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) AACCCGGACGTTTCCAAGTCC 0.622000 47 91 0 0 0.003610 0 0 AMPH 273 broad.mit.edu 37 7 38433605 38433605 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:38433605C>T ENST00000356264.2 - 18 1823 c.1608_splice c.e18+1 p.Q536_splice AMPH_ENST00000428293.2_Splice_Site_p.Q494_splice|AMPH_ENST00000325590.5_Splice_Site_p.Q494_splice|AMPH_ENST00000471913.1_5'UTR NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 536 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GGACACTCACCTGAGGCACTG 0.517000 16 110 0 0 0.004007 0 0 LAMA2 3908 broad.mit.edu 37 6 129674493 129674493 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:129674493G>A ENST00000421865.2 + 32 4757 c.4708G>A c.(4708-4710)Gag>Aag p.E1570K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1570 Laminin EGF-like 17. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CGAGGGCTGGGAGTGTGTTTG 0.552000 39 50 0 0 0.008740 0 0 PIWIL2 55124 broad.mit.edu 37 8 22140560 22140560 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:22140560G>A ENST00000356766.6 + 5 587 c.439G>A c.(439-441)Ggg>Agg p.G147R PIWIL2_ENST00000521356.1_Missense_Mutation_p.G147R|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G147R NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 147 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GCTTGGAAGAGGGAGTTCAGA 0.502000 13 45 0 0 0.003163 0 0 WDR34 89891 broad.mit.edu 37 9 131418973 131418973 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:131418973G>A ENST00000372715.2 - 1 93 c.33C>T c.(31-33)agC>agT p.S11S NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 11 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 TTCCCGCCTGGCTGAGTGGCC 0.761000 5 3 0 0 0.001984 0 0 TMEM176A 55365 broad.mit.edu 37 7 150499311 150499311 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150499311G>A ENST00000484928.1 + 3 764 c.183G>A c.(181-183)caG>caA p.Q61Q TMEM176A_ENST00000461345.1_Silent_p.Q2Q|TMEM176A_ENST00000004103.3_Silent_p.Q61Q Q96HP8 T176A_HUMAN transmembrane protein 176A 61 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGTGATGCAGATCGTGCTGG 0.557000 21 61 0 0 0.001523 0 0 ARNT 405 broad.mit.edu 37 1 150801696 150801696 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:150801696C>T ENST00000358595.5 - 12 1240 c.1040G>A c.(1039-1041)aGt>aAt p.S347N ARNT_ENST00000515192.1_Missense_Mutation_p.S333N|ARNT_ENST00000354396.2_Missense_Mutation_p.S347N|ARNT_ENST00000505755.1_Missense_Mutation_p.S332N NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 347 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTGGGAGAACTAGTTACCTG 0.383000 T ETV6 AML 18 102 0 0 0.008871 0 0 CPD 1362 broad.mit.edu 37 17 28770828 28770828 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:28770828G>A ENST00000225719.4 + 11 2458 c.2382G>A c.(2380-2382)caG>caA p.Q794Q CPD_ENST00000543464.2_Silent_p.Q547Q NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 794 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGGTTCATCAGGGCGTCAGAG 0.378000 37 81 0 0 0.006230 0 0 NFKB1 4790 broad.mit.edu 37 4 103504093 103504093 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:103504093C>T ENST00000226574.4 + 10 1373 c.906C>T c.(904-906)tcC>tcT p.S302S NFKB1_ENST00000505458.1_Silent_p.S301S|NFKB1_ENST00000600343.1_Silent_p.S121S|NFKB1_ENST00000394820.4_Silent_p.S301S NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 301 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GAGATTTTTCCCCCACAGATG 0.373000 15 26 0 0 0.003163 0 0 CD40LG 959 broad.mit.edu 37 X 135730413 135730413 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:135730413C>T ENST00000370629.2 + 1 62 c.6C>T c.(4-6)atC>atT p.I2I CD40LG_ENST00000370628.2_Silent_p.I2I NM_000074.2 NP_000065.1 P29965 CD40L_HUMAN CD40 ligand 2 anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1) 26 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) ACAGCATGATCGAAACATACA 0.433000 Immune Deficiency with Hyper-IgM 27 15 0 0 0.007291 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217095 150217095 + Silent SNP C C T rs142236871 by1000genomes TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150217095C>T ENST00000313543.4 + 2 190 c.33C>T c.(31-33)atC>atT p.I11I NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 11 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTGAGGATCGTTCTGGTAG 0.498000 23 49 0 0 0.003954 0 0 ATP13A4 84239 broad.mit.edu 37 3 193153515 193153515 + Silent SNP G G A rs146990016 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:193153515G>A ENST00000342695.4 - 24 3013 c.2691C>T c.(2689-2691)ctC>ctT p.L897L ATP13A4_ENST00000392443.3_Silent_p.L878L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 897 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AGGAGGTAACGAGAGCTGCAC 0.428000 24 35 0 0 0.004656 0 0 ZNF799 90576 broad.mit.edu 37 19 12502860 12502860 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:12502860G>A ENST00000419318.1 - 4 1005 c.256C>T c.(256-258)Ctt>Ttt p.L86F CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.L118F|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.L118F Q96GE5 ZN799_HUMAN zinc finger protein 799 118 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TAACAATTAAGGGATGAATGA 0.438000 38 51 0 0 0.006999 0 0 AOX1 316 broad.mit.edu 37 2 201468806 201468806 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:201468806C>T ENST00000374700.2 + 8 896 c.655C>T c.(655-657)Cct>Tct p.P219S NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 219 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTGATATTTCCTCCTGAGCT 0.393000 27 17 0 0 0.005443 0 0 PPP1R36 145376 broad.mit.edu 37 14 65031494 65031494 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:65031494G>A ENST00000298705.1 + 4 304 c.208G>A c.(208-210)Gaa>Aaa p.E70K RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 70 AGAAGTCAAGGAAAAAGGAAA 0.403000 88 138 0 0 0.003610 0 0 ROS1 6098 broad.mit.edu 37 6 117632270 117632270 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:117632270G>A ENST00000368508.3 - 39 6344 c.6146C>T c.(6145-6147)cCt>cTt p.P2049L ROS1_ENST00000368507.3_Missense_Mutation_p.P2043L NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2049 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGTGAGTAAAGGACCATAAAA 0.333000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 29 57 0 0 0.005443 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975058 7975058 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:7975058G>A ENST00000545011.1 + 3 442 c.377G>A c.(376-378)aGg>aAg p.R126K MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000397981.3_Intron|MAP2K7_ENST00000397983.3_Intron O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 111 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) GGCCCAGCCAGGCTGGACCCA 0.687000 4 5 0 0 0.000248 0 0 RP1L1 94137 broad.mit.edu 37 8 10468038 10468038 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:10468038C>T ENST00000382483.3 - 4 3793 c.3570G>A c.(3568-3570)acG>acA p.T1190T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1190 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) TGAAGTTCTCCGTCATGGCAT 0.627000 11 23 0 0 0.001368 0 0 POTED 317754 broad.mit.edu 37 21 14982936 14982936 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:14982936G>A ENST00000299443.5 + 1 439 c.387G>A c.(385-387)atG>atA p.M129I NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 129 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GCGCCTTCATGGAGCCGAGGT 0.602000 33 11 0 0 0.001786 0 0 USP7 7874 broad.mit.edu 37 16 8996003 8996003 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:8996003G>A ENST00000344836.4 - 18 2181 c.1983C>T c.(1981-1983)ttC>ttT p.F661F USP7_ENST00000381886.4_Silent_p.F645F|USP7_ENST00000535863.1_Silent_p.F562F NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 661 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CTGTTTCCAGGAATATTGTCC 0.463000 21 75 0 0 0.003330 0 0 TENM1 10178 broad.mit.edu 37 X 123514521 123514521 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:123514521C>T ENST00000422452.2 - 32 8127 c.8064G>A c.(8062-8064)aaG>aaA p.K2688K STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.K2681K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AAAGCTGCTGCTTTTCCCCTT 0.498000 71 33 0 0 0.003610 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011572 46011572 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:46011572G>A ENST00000400368.1 - 1 814 c.794C>T c.(793-795)cCc>cTc p.P265L TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 265 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GTGCTGGCAGGGGGAGGAGGT 0.647000 35 77 0 0 0.002836 0 0 OR13G1 441933 broad.mit.edu 37 1 247835454 247835454 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:247835454C>T ENST00000359688.2 - 1 911 c.890G>A c.(889-891)gGa>gAa p.G297E RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTTCCTAATTCCTGCCTGCAT 0.423000 27 111 0 0 0.002096 0 0 DUSP27 92235 broad.mit.edu 37 1 167088601 167088601 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:167088601C>T ENST00000361200.2 + 5 719 c.553C>T c.(553-555)Cag>Tag p.Q185* DUSP27_ENST00000271385.5_Nonsense_Mutation_p.Q185*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.Q185* Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 185 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCTGGAGATCCAGTACCTGGG 0.562000 21 48 0 0 0.002780 0 0 STAB2 55576 broad.mit.edu 37 12 104056714 104056714 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:104056714C>T ENST00000388887.2 + 18 2164 c.1960C>T c.(1960-1962)Cct>Tct p.P654S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 654 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGTTCTCATTCCTCCCTCCAT 0.438000 44 76 0 0 0.003610 0 0 AOC1 26 broad.mit.edu 37 7 150553894 150553894 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150553894C>T ENST00000493429.1 + 4 920 c.336C>T c.(334-336)acC>acT p.T112T AOC1_ENST00000360937.4_Silent_p.T112T|AOC1_ENST00000467291.1_Silent_p.T112T|AOC1_ENST00000416793.2_Silent_p.T112T amine oxidase, copper containing 1 CCAATGTCACCGAGTTTGCTG 0.602000 23 75 0 0 0.002299 0 0 SLC17A1 6568 broad.mit.edu 37 6 25819819 25819819 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:25819819A>G ENST00000244527.4 - 5 564 c.449T>C c.(448-450)gTt>gCt p.V150A SLC17A1_ENST00000468082.1_Missense_Mutation_p.V150A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V150A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V150A NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 150 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GGCTGTTGCAACTATCCCCTG 0.388000 25 70 0 0 0.002780 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 7 20 0 0 0.003080 0 0 FMN2 56776 broad.mit.edu 37 1 240370340 240370340 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:240370340C>T ENST00000319653.9 + 5 2458 c.2228C>T c.(2227-2229)tCg>tTg p.S743L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 743 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGGCGAAATCGATACAGACT 0.572000 10 47 0 0 0.006214 0 0 USH2A 7399 broad.mit.edu 37 1 215824000 215824000 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:215824000C>T ENST00000366943.2 - 65 14663 c.14277G>A c.(14275-14277)ggG>ggA p.G4759G USH2A_ENST00000307340.3_Silent_p.G4759G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4759 Fibronectin type-III 33. 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) CGTTGGGCTTCCCAGGGGCAC 0.587000 HNSCC(13;0.011) 39 160 0 0 0.002852 0 0 RRAS 6237 broad.mit.edu 37 19 50138891 50138891 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:50138891G>A ENST00000246792.3 - 6 701 c.599C>T c.(598-600)cCg>cTg p.P200L NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 200 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) GGGAGGGCTCGGTGGGAGCTC 0.617000 40 100 0 0 0.006999 0 0 ZNF765 91661 broad.mit.edu 37 19 53911937 53911937 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:53911937C>T ENST00000396408.3 + 4 1246 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) TCATAGAGTTCATACTGGAGA 0.408000 24 35 0 0 0.002780 0 0 IMPG1 3617 broad.mit.edu 37 6 76657158 76657158 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:76657158C>T ENST00000369950.3 - 14 2106 c.1917G>A c.(1915-1917)atG>atA p.M639I IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 639 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TAGCAAACTTCATTTTGCTAT 0.433000 11 32 0 0 0.008291 0 0 LILRA3 11026 broad.mit.edu 37 19 54802032 54802032 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:54802032G>A ENST00000391745.1 - 10 1523 c.1207C>T c.(1207-1209)Cct>Tct p.P403S LILRA3_ENST00000391744.3_Missense_Mutation_p.P322S|LILRA3_ENST00000251390.3_Missense_Mutation_p.P386S leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGGTCACAGGACTCATGGGG 0.587000 49 107 0 0 0.003610 0 0 TENM3 55714 broad.mit.edu 37 4 183713578 183713578 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:183713578C>T ENST00000511685.1 + 26 5876 c.5753C>T c.(5752-5754)cCg>cTg p.P1918L TENM3_ENST00000406950.2_Missense_Mutation_p.P1918L teneurin transmembrane protein 3 TACAACCCCCCGGAAAGCAAC 0.532000 16 49 0 0 0.008871 0 0 F2RL1 2150 broad.mit.edu 37 5 76129575 76129575 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:76129575G>A ENST00000296677.4 + 2 1349 c.1143G>A c.(1141-1143)agG>agA p.R381R NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 381 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) AACACTCCAGGAAATCCAGCT 0.463000 111 144 0 0 0.003610 0 0 SNORA71C 677839 broad.mit.edu 37 20 37058370 37058370 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:37058370G>A ENST00000364642.1 - 0 76 NR_003017.2 ACACGGGGAAGTGCTCTCGGC 0.602000 32 44 0 0 0.001786 0 0 SDK1 221935 broad.mit.edu 37 7 4014040 4014040 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:4014040G>A ENST00000404826.2 + 13 1996 c.1857G>A c.(1855-1857)tcG>tcA p.S619S SDK1_ENST00000389531.3_Silent_p.S619S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 619 Ig-like C2-type 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGACTCCATCGAGCACGTCTA 0.542000 60 35 0 0 0.003610 0 0 HNF4G 3174 broad.mit.edu 37 8 76459858 76459858 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:76459858G>A ENST00000396423.2 + 3 418 c.294G>A c.(292-294)agG>agA p.R98R HNF4G_ENST00000354370.1_Silent_p.R61R NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 61 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGGACAAAAGGAATCAATGTA 0.289000 43 105 0 0 0.003610 0 0 KCNK10 54207 broad.mit.edu 37 14 88789132 88789132 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:88789132G>A ENST00000319231.5 - 1 461 c.11C>T c.(10-12)cCa>cTa p.P4L KCNK10_ENST00000340700.5_Intron NM_138317.2 NP_612190.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 0 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CGTCTCGattggaaatttcat 0.498000 20 27 0 0 0.001523 0 0 SLIT1 6585 broad.mit.edu 37 10 98802662 98802662 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:98802662C>T ENST00000266058.4 - 20 2405 c.2160G>A c.(2158-2160)gaG>gaA p.E720E ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.E720E NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 720 LRRCT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGTTACCTTCCTCACACCTGA 0.642000 21 20 0 0 0.008871 0 0 ALS2CL 259173 broad.mit.edu 37 3 46718189 46718189 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:46718189G>A ENST00000318962.4 - 18 2054 c.1971C>T c.(1969-1971)atC>atT p.I657I ALS2CL_ENST00000415953.1_Silent_p.I657I|ALS2CL_ENST00000383742.3_Silent_p.I4I NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 657 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCTCCTCCAGGATGTCTTCCA 0.652000 23 46 0 0 0.003954 0 0 ARSE 415 broad.mit.edu 37 X 2878427 2878427 + Silent SNP G G A rs146870341 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:2878427G>A ENST00000540563.1 - 2 131 c.42C>T c.(40-42)caC>caT p.H14H ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000545496.1_5'UTR|ARSE_ENST00000381134.3_Silent_p.H5H P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 0 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCAAGAATGGTGCAGATGTA 0.338000 17 15 0 0 0.008871 0 0 NOS3 4846 broad.mit.edu 37 7 150696302 150696302 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150696302C>T ENST00000297494.3 + 9 1338 c.981C>T c.(979-981)ggC>ggT p.G327G NOS3_ENST00000467517.1_Silent_p.G327G|NOS3_ENST00000461406.1_Silent_p.G121G|NOS3_ENST00000484524.1_Silent_p.G327G NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 327 Interaction with NOSIP. 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) CAGCCCTGGGCCTGCGCTGGT 0.652000 40 71 0 0 0.006999 0 0 TLL2 7093 broad.mit.edu 37 10 98192651 98192651 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:98192651G>A ENST00000357947.3 - 4 658 c.433C>T c.(433-435)Ccc>Tcc p.P145S TLL2_ENST00000469598.1_Intron NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 145 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGGACCCGGGGAGAGAAGGTC 0.552000 22 29 0 0 0.001882 0 0 TUSC3 7991 broad.mit.edu 37 8 15601097 15601097 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:15601097A>G ENST00000382020.4 + 8 1121 c.913A>G c.(913-915)Aaa>Gaa p.K305E TUSC3_ENST00000506802.1_Missense_Mutation_p.K305E|TUSC3_ENST00000503731.1_Missense_Mutation_p.K305E NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 305 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) AGCAACTTCGAAAGGCGATGT 0.378000 92 206 0 0 0.003610 0 0 MPND 84954 broad.mit.edu 37 19 4359204 4359204 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:4359204G>A ENST00000599840.1 + 12 1406 c.1371G>A c.(1369-1371)agG>agA p.R457R MPND_ENST00000262966.8_Silent_p.R427R|MPND_ENST00000359935.4_Silent_p.R407R Q8N594 MPND_HUMAN MPN domain containing 427 peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTCGTGAGGCTCCAGGAAC 0.627000 13 32 0 0 0.001855 0 0 UNC13C 440279 broad.mit.edu 37 15 54685301 54685301 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:54685301A>T ENST00000545554.1 + 17 4769 c.4769A>T c.(4768-4770)gAt>gTt p.D1590V UNC13C_ENST00000537900.1_Missense_Mutation_p.D1588V|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1590V Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1590 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAGAATTTGGATTTTTGGCCC 0.393000 20 49 0 0 0.001523 0 0 POU6F2 11281 broad.mit.edu 37 7 39125630 39125630 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:39125630C>T ENST00000518318.2 + 2 231 c.190_splice c.e2+1 p.F63_splice POU6F2_ENST00000464276.2_Splice_Site_p.F55_splice|POU6F2_ENST00000559001.1_Splice_Site_p.F55_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Splice_Site_p.F63_splice P78424 PO6F2_HUMAN POU class 6 homeobox 2 63 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F63F(1) NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GCAAGCTCTTCGGTAAGTCTG 0.507000 13 52 0 0 0.001855 0 0 DDX58 23586 broad.mit.edu 37 9 32500845 32500845 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:32500845C>T ENST00000379883.2 - 2 356 c.199G>A c.(199-201)Gaa>Aaa p.E67K DDX58_ENST00000379882.1_Intron|DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR NM_014314.3 NP_055129.2 O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 67 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) AACCAGCCTTCCTCCTGGAGC 0.448000 35 49 0 0 0.003271 0 0 CACNA1F 778 broad.mit.edu 37 X 49081361 49081361 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:49081361G>A ENST00000376265.2 - 14 1833 c.1772C>T c.(1771-1773)tCc>tTc p.S591F CACNA1F_ENST00000323022.5_Missense_Mutation_p.S580F|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S526F NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 591 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTTGAAGAAGGAAGACACATA 0.552000 3 1 0 0 0.000248 0 0 FLJ33360 401172 broad.mit.edu 37 5 6312529 6312529 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:6312529C>T ENST00000507444.1 - 0 443 NR_028351.1 AAGACGGGTCCCTCCAGCCTG 0.587000 4 2 0 0 0.000248 0 0 RNASE9 390443 broad.mit.edu 37 14 21024965 21024965 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:21024965C>T ENST00000557068.1 - 4 1989 c.264G>A c.(262-264)atG>atA p.M88I RNASE9_ENST00000429244.2_Missense_Mutation_p.M88I|RNASE9_ENST00000338904.3_Missense_Mutation_p.M88I|RNASE9_ENST00000404716.3_Missense_Mutation_p.M93I|RNASE9_ENST00000554964.1_Missense_Mutation_p.M88I|RNASE9_ENST00000557209.1_Missense_Mutation_p.M93I|RNASE9_ENST00000555230.1_Missense_Mutation_p.M88I|RNASE9_ENST00000556208.1_Missense_Mutation_p.M93I|RNASE9_ENST00000553541.1_Missense_Mutation_p.M88I|RNASE9_ENST00000553706.1_Missense_Mutation_p.M93I P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 88 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) CATTTTTTCCCATGATTTCAT 0.403000 42 90 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9063943 9063943 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9063943C>T ENST00000397910.4 - 3 23706 c.23503G>A c.(23503-23505)Gag>Aag p.E7835K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7837 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 CCGCTGGACTCCCTCAATCCA 0.542000 14 39 0 0 0.003163 0 0 SCAND3 114821 broad.mit.edu 37 6 28542663 28542663 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:28542663C>T ENST00000452236.2 - 3 2436 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 607 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CATTCTTTTTCACAAACTACA 0.418000 21 43 0 0 0.001523 0 0 RAB27B 5874 broad.mit.edu 37 18 52555288 52555288 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:52555288G>A ENST00000262094.5 + 5 927 c.406G>A c.(406-408)Gac>Aac p.D136N RAB27B_ENST00000586594.1_3'UTR|RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 136 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CAACAAGGCAGACCTACCAGA 0.433000 41 93 0 0 0.007835 0 0 NR2F1 7025 broad.mit.edu 37 5 92923686 92923686 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:92923686G>A ENST00000327111.3 + 2 2214 c.527G>A c.(526-528)gGg>gAg p.G176E NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 176 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTCACCAACGGGGACCCCCTC 0.607000 44 28 0 0 0.003610 0 0 LGR6 59352 broad.mit.edu 37 1 202287257 202287257 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:202287257C>T ENST00000367278.3 + 18 1915 c.1826C>T c.(1825-1827)aCc>aTc p.T609I LGR6_ENST00000255432.7_Missense_Mutation_p.T557I|LGR6_ENST00000439764.2_Missense_Mutation_p.T470I NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 609 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GGCGCCAACACCTTGACTGGC 0.622000 19 83 0 0 0.007413 0 0 NUPL2 11097 broad.mit.edu 37 7 23240047 23240047 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:23240047C>G ENST00000258742.5 + 7 1214 c.955C>G c.(955-957)Ctt>Gtt p.L319V NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 319 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATTTTCAGGACTTCCAGCTTC 0.522000 25 87 0 0 0.001786 0 0 PAN3 255967 broad.mit.edu 37 13 28840996 28840996 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:28840996G>A ENST00000399613.1 + 9 1019 c.956G>A c.(955-957)tGc>tAc p.C319Y PAN3_ENST00000282391.5_Missense_Mutation_p.C207Y|PAN3_ENST00000380958.3_Missense_Mutation_p.C519Y Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 519 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) CTGCCATATTGCCTTCGGAGG 0.343000 26 26 0 0 0.003954 0 0 KPNA1 3836 broad.mit.edu 37 3 122182787 122182787 + Splice_Site SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:122182787A>C ENST00000344337.6 - 4 514 c.e4+1 NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TTCATAGCTCACCTTTTGAAA 0.353000 19 22 0 0 0.008871 0 0 CFAP54 144535 broad.mit.edu 37 12 97158896 97158896 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:97158896G>A ENST00000524981.3 + 27 3534 c.3534G>A c.(3532-3534)aaG>aaA p.K1178K Q6ZTY8 CL063_HUMAN 1152 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TTATTGGAAAGAAGAATACTA 0.313000 29 71 0 0 0.004289 0 0 BYSL 705 broad.mit.edu 37 6 41889369 41889369 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:41889369C>T ENST00000230340.4 + 1 444 c.69C>T c.(67-69)atC>atT p.I23I NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 23 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCGATCAGATCCTGGCTGGGA 0.652000 OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 25 0 0 0.004878 0 0 LRP12 29967 broad.mit.edu 37 8 105509875 105509875 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:105509875G>A ENST00000276654.5 - 5 1013 c.905C>T c.(904-906)aCt>aTt p.T302I LRP12_ENST00000424843.2_Missense_Mutation_p.T283I NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 302 CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTTAAAGTCAGTGAAGCGTAA 0.378000 16 25 0 0 0.004007 0 0 ABCC3 8714 broad.mit.edu 37 17 48745836 48745836 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:48745836G>A ENST00000285238.8 + 14 1908 c.1828G>A c.(1828-1830)Gaa>Aaa p.E610K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 610 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) GAGCCAAGAGGAACTTGACCC 0.567000 31 59 0 0 0.002096 0 0 PXDNL 137902 broad.mit.edu 37 8 52323826 52323826 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:52323826C>T ENST00000356297.4 - 16 2146 c.2046G>A c.(2044-2046)gtG>gtA p.V682V PXDNL_ENST00000543296.1_Silent_p.V682V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 682 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTTCCAAGTCCACAGTGAGCC 0.507000 4 8 0 0 0.000248 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735092 41735092 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:41735092C>T ENST00000352645.4 + 9 970 c.713C>T c.(712-714)gCc>gTc p.A238V ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A238V NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 254 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GACCTGCTGGCCCCCCTGGAC 0.662000 41 69 0 0 0.006230 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67314616 67314616 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:67314616C>T ENST00000360461.5 + 2 3037 c.502C>T c.(502-504)Ccc>Tcc p.P168S PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P168S|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P168S|PLEKHG4_ENST00000450733.1_Intron NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 168 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TTCCCAAGCCCCCAGTGGATC 0.612000 23 63 0 0 0.003954 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47202494 47202494 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:47202494G>A ENST00000296861.2 - 5 2043 c.1650C>T c.(1648-1650)ttC>ttT p.F550F NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 550 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) ACTCATCCACGAAGAAGCCCT 0.597000 4 14 0 0 0.000602 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58178429 58178429 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:58178429C>T ENST00000318316.3 - 10 1387 c.903G>A c.(901-903)aaG>aaA p.K301K DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000486455.1_Silent_p.K271K|DNASE1L3_ENST00000394549.2_Silent_p.K301K Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 301 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) AGCGTTTGCTCTTTGTTTTCT 0.413000 29 74 0 0 0.007291 0 0 TAF1L 138474 broad.mit.edu 37 9 32635109 32635109 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:32635109G>A ENST00000242310.4 - 1 558 c.469C>T c.(469-471)Cct>Tct p.P157S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 157 Pro-rich. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGAGGTGGAGGAGGCATCAAC 0.488000 18 57 0 0 0.006122 0 0 INTU 27152 broad.mit.edu 37 4 128627833 128627833 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:128627833C>T ENST00000335251.5 + 12 2083 c.1980C>T c.(1978-1980)ttC>ttT p.F660F NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 660 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CTGACTGGTTCCTTACTGGAT 0.453000 38 86 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179594491 179594491 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179594491G>A ENST00000589042.1 - 63 18713 c.18489C>T c.(18487-18489)ttC>ttT p.F6163F TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F5846F|TTN_ENST00000342992.6_Silent_p.F4919F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5846 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) CAGAAATCTGGAAAGTGGCTA 0.458000 84 44 0 0 0.003610 0 0 ABCC9 10060 broad.mit.edu 37 12 21960391 21960391 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:21960391C>T ENST00000261200.4 - 36 4337 c.4338G>A c.(4336-4338)ggG>ggA p.G1446G ABCC9_ENST00000345162.2_Silent_p.G1410G|ABCC9_ENST00000261201.4_Silent_p.G1446G NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1446 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAAATTCTCCCCACCTTCAG 0.418000 17 51 0 0 0.006122 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467032 21467032 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:21467032G>A ENST00000281523.2 - 6 1322 c.804C>T c.(802-804)caC>caT p.H268H NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 268 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AGATTTCACAGTGAAATGTTT 0.428000 32 69 0 0 0.002445 0 0 MKL2 57496 broad.mit.edu 37 16 14328110 14328110 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:14328110C>T ENST00000571589.1 + 9 973 c.801C>T c.(799-801)tcC>tcT p.S267S MKL2_ENST00000572567.1_Silent_p.S256S|MKL2_ENST00000573051.1_Silent_p.S216S|MKL2_ENST00000341243.5_Silent_p.S256S|MKL2_ENST00000318282.5_Silent_p.S267S|MKL2_ENST00000574045.1_Silent_p.S267S NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 256 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACACTGTGTCCTCAGCAAAGC 0.532000 19 43 0 0 0.007413 0 0 SNHG14 104472715 broad.mit.edu 37 15 25325369 25325369 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:25325369G>A ENST00000549804.2 + 0 1377 SNORD116-14_ENST00000383894.1_RNA CATTCTCGTCGAACTGAGGTC 0.463000 39 78 0 0 0.007835 0 0 GPR50 9248 broad.mit.edu 37 X 150349895 150349895 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:150349895G>A ENST00000218316.3 + 2 1909 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 614 cell-cell signaling integral to plasma membrane melatonin receptor activity p.E614*(1) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGATCCTGATGAAATGGCTGT 0.453000 42 14 0 0 0.002222 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474341 145474341 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:145474341C>T ENST00000323397.4 + 4 2306 c.1013C>T c.(1012-1014)cCa>cTa p.P338L NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 338 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGCATGGAGCCAGTGGAGCTG 0.652000 8 44 0 0 0.003080 0 0 CD84 8832 broad.mit.edu 37 1 160523817 160523817 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:160523817G>A ENST00000368054.3 - 3 543 c.508C>T c.(508-510)Ccc>Tcc p.P170S CD84_ENST00000368051.3_Missense_Mutation_p.P170S|CD84_ENST00000311224.4_Missense_Mutation_p.P170S|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.P170S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.P56S NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 170 Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCTCCCAGGGGACTCCAATTG 0.448000 30 134 0 0 0.001786 0 0 PTGFR 5737 broad.mit.edu 37 1 78959101 78959101 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:78959101A>T ENST00000370756.3 + 2 910 c.673A>T c.(673-675)Att>Ttt p.I225F PTGFR_ENST00000370758.1_Missense_Mutation_p.I225F|PTGFR_ENST00000370757.3_Missense_Mutation_p.I225F NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 225 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AATCACAGGAATTACACTTTT 0.388000 19 52 0 0 0.001523 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270181 36270181 + Missense_Mutation SNP G G A rs144648025 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:36270181G>A ENST00000394571.2 + 6 1319 c.1319G>A c.(1318-1320)cGa>cAa p.R440Q PNPLA1_ENST00000312917.5_Missense_Mutation_p.R354Q|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R345Q NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 440 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 ACACTGCCCCGAAGTTCTCTT 0.572000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 124 0 0 0.003610 0 0 MYH4 4622 broad.mit.edu 37 17 10362699 10362699 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:10362699C>T ENST00000255381.2 - 15 1566 c.1456G>A c.(1456-1458)Gag>Aag p.E486K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 486 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGCAGTTTCTCGTTGGTGAAG 0.433000 37 37 0 0 0.006230 0 0 TRAV36DV7 28646 broad.mit.edu 37 14 22694674 22694674 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:22694674G>A ENST00000390463.3 + 0 34 AGTGTCCACAGGCTTTACTAG 0.433000 15 23 0 0 0.004990 0 0 SCN3A 6328 broad.mit.edu 37 2 165970408 165970408 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:165970408C>T ENST00000360093.3 - 20 4078 c.3587G>A c.(3586-3588)cGa>cAa p.R1196Q SCN3A_ENST00000409101.3_Missense_Mutation_p.R1147Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1196Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1196 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GCAGGTTTTTCGAAGATTCCA 0.343000 74 39 0 0 0.003610 0 0 YPEL5 51646 broad.mit.edu 37 2 30379533 30379533 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:30379533C>T ENST00000379520.3 + 4 520 c.16C>T c.(16-18)Ctt>Ttt p.L6F YPEL5_ENST00000261353.4_Missense_Mutation_p.L6F|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.L6F|YPEL5_ENST00000402003.3_Missense_Mutation_p.L6F|YPEL5_ENST00000379519.3_Missense_Mutation_p.L6F NM_001127401.1 NP_001120873.1 P62699 YPEL5_HUMAN yippee-like 5 (Drosophila) 6 peptide-methionine-(S)-S-oxide reductase activity NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(172;0.155) CAGAATTTTCCTTGATCATAT 0.418000 78 46 0 0 0.003610 0 0 OR2C3 81472 broad.mit.edu 37 1 247694968 247694968 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:247694968G>A ENST00000366487.3 - 2 1207 c.846C>T c.(844-846)gtC>gtT p.V282V GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GCGCAGGAGTGACTACGGTGT 0.532000 24 98 0 0 0.005443 0 0 NLRP4 147945 broad.mit.edu 37 19 56370296 56370296 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:56370296G>A ENST00000301295.6 + 3 1959 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K NLRP4_ENST00000587891.1_Missense_Mutation_p.E438K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E513K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 513 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) AAAGGAACAAGAAAAACTGGA 0.423000 28 59 0 0 0.006320 0 0 FAM208B 54906 broad.mit.edu 37 10 5791322 5791322 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:5791322C>T ENST00000328090.5 + 15 6563 c.5938C>T c.(5938-5940)Ctg>Ttg p.L1980L NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1980 CCTGGAGTATCTGCGTTTTGC 0.507000 28 24 0 0 0.006320 0 0 MAP4K4 9448 broad.mit.edu 37 2 102490542 102490542 + Splice_Site SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:102490542A>C ENST00000413150.2 + 22 2435 c.e22-1 MAP4K4_ENST00000425019.1_Splice_Site|MAP4K4_ENST00000350878.4_Splice_Site|MAP4K4_ENST00000350198.4_Splice_Site|MAP4K4_ENST00000324219.4_Splice_Site|MAP4K4_ENST00000302217.5_Splice_Site|MAP4K4_ENST00000456652.1_Splice_Site|MAP4K4_ENST00000347699.4_Splice_Site NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 ATTGTGTTTCAGTGGGATTTT 0.428000 21 11 0 0 0.002780 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057749 63057749 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:63057749G>C ENST00000332793.6 + 1 114 c.112G>C c.(112-114)Gag>Cag p.E38Q SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Splice_Site NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 38 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TATACTGCTAGAGAACTTTGC 0.448000 18 58 0 0 0.008871 0 0 FAM47B 170062 broad.mit.edu 37 X 34961419 34961419 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:34961419G>A ENST00000329357.5 + 1 507 c.471G>A c.(469-471)agG>agA p.R157R NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 157 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATCCCGAGAGGAAGCTGGAGG 0.572000 18 10 0 0 0.006122 0 0 CNTN3 5067 broad.mit.edu 37 3 74411041 74411041 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:74411041C>T ENST00000263665.6 - 10 1391 c.1364_splice c.e10+1 p.R455_splice NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 455 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ATCAAAATACCTTTCATGCTC 0.448000 23 34 0 0 0.003954 0 0 ZNF229 7772 broad.mit.edu 37 19 44934700 44934700 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:44934700C>T ENST00000291187.4 - 6 560 c.238G>A c.(238-240)Gat>Aat p.D80N ZNF229_ENST00000588931.1_Missense_Mutation_p.D86N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 86 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TACTCCGTATCCTTTCCATTC 0.403000 6 33 0 0 0.001168 0 0 TMEM245 23731 broad.mit.edu 37 9 111812952 111812952 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:111812952G>A ENST00000374586.3 - 13 1906 c.1875C>T c.(1873-1875)atC>atT p.I625I NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 625 integral to membrane GGCTCATAACGATCCACAGAG 0.458000 13 16 0 0 0.003163 0 0 MMP12 4321 broad.mit.edu 37 11 102736603 102736603 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:102736603G>A ENST00000532855.1 - 0 1204 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AAAACCAAAAGAATGTATGCT 0.328000 14 41 0 0 0.003163 0 0 CFHR1 3078 broad.mit.edu 37 1 196794623 196794623 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:196794623T>C ENST00000320493.5 + 2 163 c.75T>C c.(73-75)ttT>ttC p.F25F CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Silent_p.F25F|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 25 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TTTGTGATTTTCCAAAAATAA 0.269000 6 47 0 0 0.003080 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356646 22356646 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:22356646C>T ENST00000390437.2 + 0 409 AGACTCCCAGCCCAGTGATTC 0.507000 48 107 0 0 0.003610 0 0 GNG2 54331 broad.mit.edu 37 14 52433367 52433367 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:52433367C>T ENST00000335281.4 + 3 584 c.178C>T c.(178-180)Ccg>Tcg p.P60S GNG2_ENST00000554736.1_Missense_Mutation_p.P60S|GNG2_ENST00000553432.1_Missense_Mutation_p.P91S|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556766.1_Missense_Mutation_p.P60S|GNG2_ENST00000557376.1_Missense_Mutation_p.P99S|GNG2_ENST00000555472.1_Missense_Mutation_p.P60S|GNG2_ENST00000556752.1_Missense_Mutation_p.P60S NM_001243774.1 NP_001230703.1 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), gamma 2 60 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) TTCAGAAAACCCGTTTAGGGA 0.522000 37 88 0 0 0.007835 0 0 ASXL3 80816 broad.mit.edu 37 18 31320358 31320358 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:31320358C>T ENST00000269197.5 + 11 2990 c.2990C>T c.(2989-2991)cCt>cTt p.P997L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 997 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 AGCAGCCCACCTGAGAAAGAA 0.438000 9 13 0 0 0.006214 0 0 YIF1B 90522 broad.mit.edu 37 19 38799877 38799877 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38799877G>A ENST00000392124.3 - 2 610 c.296C>T c.(295-297)cCc>cTc p.P99L YIF1B_ENST00000339413.6_Missense_Mutation_p.P130L|YIF1B_ENST00000337679.8_Missense_Mutation_p.P127L|YIF1B_ENST00000329420.8_Missense_Mutation_p.P115L|YIF1B_ENST00000591784.1_Missense_Mutation_p.P99L|YIF1B_ENST00000591755.1_Missense_Mutation_p.P127L|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592694.1_Missense_Mutation_p.P99L|YIF1B_ENST00000592246.1_Intron NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) 130 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTGTAGGTAGGGGAAGAACAG 0.607000 56 143 0 0 0.003610 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 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) TCTTAACTTACTGTTGTGAAA 0.418000 4 50 0 0 0.000602 0 0 ABCG8 64241 broad.mit.edu 37 2 44102518 44102518 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:44102518G>A ENST00000272286.2 + 11 1812 c.1722G>A c.(1720-1722)ggG>ggA p.G574G NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 574 ABC transmembrane type-2. G -> E (in STSL).|G -> R (in STSL). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACCTCGCCGGGGGCTTCATGA 0.602000 243 124 0 0 0.003610 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475885 140475885 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:140475885C>T ENST00000194155.4 + 1 1659 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 504 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S504F(1) 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) CCCCTCGCCTCCCTGGTCTCC 0.687000 43 42 0 0 0.003610 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860504 43860504 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:43860504G>A ENST00000389420.3 - 9 1317 c.1318C>T c.(1318-1320)Cct>Tct p.P440S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P440S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 440 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGCTCCAAGGACTCATGTGA 0.318000 30 54 0 0 0.002836 0 0 LTN1 26046 broad.mit.edu 37 21 30338844 30338844 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:30338844G>A ENST00000361371.4 - 10 2119 c.1969C>T c.(1969-1971)Cct>Tct p.P657S LTN1_ENST00000389194.2_Missense_Mutation_p.P703S|LTN1_ENST00000389195.2_Missense_Mutation_p.P703S NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 657 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGCACCGCAGGATTTTTTTGT 0.393000 16 37 0 0 0.006122 0 0 PHF20L1 51105 broad.mit.edu 37 8 133855107 133855107 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:133855107G>A ENST00000395386.2 + 19 3034 c.2735G>A c.(2734-2736)gGa>gAa p.G912E PHF20L1_ENST00000395390.2_Missense_Mutation_p.G887E|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.G299E NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 912 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AAAGAACATGGAATGCCTGAA 0.348000 40 86 0 0 0.002852 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664219 169664219 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:169664219C>T ENST00000483289.2 - 0 3075 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 GCCACAAAGGCCTTGAAGCAC 0.522000 16 13 0 0 0.006122 0 0 FAT3 120114 broad.mit.edu 37 11 92539573 92539573 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:92539573A>T ENST00000298047.6 + 11 9156 c.9139A>T c.(9139-9141)Atc>Ttc p.I3047F FAT3_ENST00000409404.2_Missense_Mutation_p.I3047F|FAT3_ENST00000525166.1_Missense_Mutation_p.I2897F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3047 Cadherin 28. 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) ATCAAATAAAATCATCCTGAA 0.368000 TCGA Ovarian(4;0.039) 70 351 0 0 0.003610 0 0 CSMD2 114784 broad.mit.edu 37 1 34192204 34192204 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:34192204G>A ENST00000373381.4 - 16 2627 c.2451C>T c.(2449-2451)agC>agT p.S817S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 777 CUB 5. 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) CCCAGGCACAGCTCAAGGCAT 0.612000 24 49 0 0 0.002780 0 0 OGFRL1 79627 broad.mit.edu 37 6 72003052 72003052 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:72003052G>A ENST00000370435.4 + 2 425 c.291G>A c.(289-291)agG>agA p.R97R RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 97 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 ATGCTGCCAGGGATTTGTACA 0.378000 24 60 0 0 0.003954 0 0 SEPT9 10801 broad.mit.edu 37 17 75398431 75398431 + Missense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:75398431G>T ENST00000329047.8 + 2 1125 c.313G>T c.(313-315)Ggg>Tgg p.G105W SEPT9_ENST00000590294.1_Missense_Mutation_p.G105W|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.G123W|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.G116W|SEPT9_ENST00000591198.1_Missense_Mutation_p.G104W NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 123 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GGAGAACGCCGGGGCCATCGG 0.687000 9 26 3.86212e-05 4.62572e-05 0.008291 1 0 PYGL 5836 broad.mit.edu 37 14 51382199 51382199 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:51382199G>A ENST00000216392.7 - 11 1590 c.1258C>T c.(1258-1260)Cct>Tct p.P420S PYGL_ENST00000532462.1_Missense_Mutation_p.P420S|PYGL_ENST00000544180.2_Missense_Mutation_p.P386S NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 420 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ACATCTTTAGGAAACAAGGCC 0.458000 23 44 0 0 0.002780 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435605 7435605 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:7435605C>T ENST00000319098.4 - 1 1095 c.1002G>A c.(1000-1002)aaG>aaA p.K334K SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 334 Saposin B-type 3. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 TGATGCACTCCTTCGTGATAG 0.562000 32 81 0 0 0.001786 0 0 CHST4 10164 broad.mit.edu 37 16 71571180 71571180 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:71571180C>T ENST00000338482.5 + 3 943 c.600C>T c.(598-600)atC>atT p.I200I CHST4_ENST00000572450.1_Silent_p.I200I|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 200 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 ACCTGCATATCGTGCACCTGG 0.607000 11 35 0 0 0.008291 0 0 CDHR5 53841 broad.mit.edu 37 11 619372 619372 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:619372C>T ENST00000358353.3 - 13 1634 c.1312G>A c.(1312-1314)Gtg>Atg p.V438M CDHR5_ENST00000349570.7_Missense_Mutation_p.V438M|CDHR5_ENST00000397542.2_Missense_Mutation_p.V438M Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 438 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CCAGAGGTCACCGTGTTGTGG 0.622000 9 20 0 0 0.006214 0 0 OR6C4 341418 broad.mit.edu 37 12 55945170 55945170 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:55945170C>T ENST00000394256.2 + 1 188 c.160C>T c.(160-162)Cag>Tag p.Q54* RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CCCCCACCTCCAGACCCCCAT 0.418000 45 113 0 0 0.003610 0 0 SEPT9 10801 broad.mit.edu 37 17 75398432 75398432 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:75398432G>A ENST00000329047.8 + 2 1126 c.314G>A c.(313-315)gGg>gAg p.G105E SEPT9_ENST00000590294.1_Missense_Mutation_p.G105E|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.G123E|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.G116E|SEPT9_ENST00000591198.1_Missense_Mutation_p.G104E NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 123 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GAGAACGCCGGGGCCATCGGC 0.682000 10 26 0 0 0.008291 0 0 MUTYH 4595 broad.mit.edu 37 1 45798075 45798075 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:45798075G>A ENST00000450313.1 - 9 991 c.776C>T c.(775-777)tCc>tTc p.S259F MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.S231F|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.S231F|MUTYH_ENST00000448481.1_Missense_Mutation_p.S242F|MUTYH_ENST00000372110.3_Missense_Mutation_p.S246F|MUTYH_ENST00000372098.3_Missense_Mutation_p.S256F|MUTYH_ENST00000372100.5_Missense_Mutation_p.S242F|MUTYH_ENST00000372104.1_Missense_Mutation_p.S231F|MUTYH_ENST00000372115.3_Missense_Mutation_p.S245F|MUTYH_ENST00000354383.6_Missense_Mutation_p.S232F|MUTYH_ENST00000488731.2_Intron NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 256 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GAGCTGCTGGGAAACAAGGGT 0.587000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 14 30 0 0 0.004007 0 0 ALX3 257 broad.mit.edu 37 1 110604122 110604122 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:110604122C>T ENST00000369792.4 - 3 745 c.658G>A c.(658-660)Ggg>Agg p.G220R RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 220 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGTTCCGCCCCTCCTGGATC 0.627000 23 75 0 0 0.004656 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643803 121643803 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:121643803C>T ENST00000489711.1 + 13 1435 c.1047C>T c.(1045-1047)ccC>ccT p.P349P SLC15A2_ENST00000295605.2_Silent_p.P318P NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 349 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTCTAAATCCCCTTCTGGTTC 0.388000 51 62 0 0 0.003610 0 0 GALNT8 26290 broad.mit.edu 37 12 4873136 4873136 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:4873136G>A ENST00000252318.2 + 9 1853 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 506 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CCTATTGGATGAAAATGTCTG 0.493000 22 61 0 0 0.002780 0 0 LILRA2 11027 broad.mit.edu 37 19 55086465 55086465 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:55086465C>T ENST00000251377.3 + 5 753 c.620C>T c.(619-621)tCt>tTt p.S207F LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S207F|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S207F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S195F leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S207C(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TATGTGTGGTCTCTACCCAGT 0.587000 48 100 0 0 0.003610 0 0 TAAR8 83551 broad.mit.edu 37 6 132873887 132873887 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:132873887G>A ENST00000275200.1 + 1 56 c.56G>A c.(55-57)gGa>gAa p.G19E NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 19 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) GATGTGAATGGATCTTGTATT 0.433000 23 77 0 0 0.002299 0 0 CHAF1A 10036 broad.mit.edu 37 19 4418031 4418031 + Silent SNP C C T rs143106881 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:4418031C>T ENST00000301280.5 + 4 1076 c.975C>T c.(973-975)ttC>ttT p.F325F NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 325 Arg/Glu/Lys-rich. 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) CTAAGAAATTCGTCAAAGGCT 0.348000 Chromatin Structure 26 52 0 0 0.007291 0 0 MYO18B 84700 broad.mit.edu 37 22 26231385 26231385 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:26231385C>T ENST00000335473.7 + 17 3433 c.3183C>T c.(3181-3183)ttC>ttT p.F1061F MYO18B_ENST00000407587.2_Silent_p.F1062F|MYO18B_ENST00000536101.1_Silent_p.F1061F NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1061 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGCTGCTTTCGAGAAGAAAG 0.567000 43 77 0 0 0.003214 0 0 KCNS3 3790 broad.mit.edu 37 2 18113419 18113419 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:18113419G>A ENST00000403915.1 + 3 1595 c.1144G>A c.(1144-1146)Gcg>Acg p.A382T KCNS3_ENST00000304101.4_Missense_Mutation_p.A382T|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 382 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGTCACCTTGGCGGGAAAGCT 0.552000 53 25 0 0 0.003610 0 0 SIX4 51804 broad.mit.edu 37 14 61180583 61180583 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:61180583G>A ENST00000216513.4 - 3 1947 c.1888C>T c.(1888-1890)Ccc>Tcc p.P630S NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 630 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) AGCTCAGTGGGATTTAGTAGT 0.473000 13 14 0 0 0.001855 0 0 TNN 63923 broad.mit.edu 37 1 175113555 175113555 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:175113555T>C ENST00000239462.4 + 18 3741 c.3628T>C c.(3628-3630)Ttt>Ctt p.F1210L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1210 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGATGGAAGTTTACAACTTT 0.507000 42 167 0 0 0.002222 0 0 RNF43 54894 broad.mit.edu 37 17 56435450 56435450 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:56435450G>A ENST00000584437.1 - 8 3642 c.1687C>T c.(1687-1689)Cag>Tag p.Q563* RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q563*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q563*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q522*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.Q436*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.Q436*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q522* Q68DV7 RNF43_HUMAN ring finger protein 43 563 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCATGCCACTGGAACCGCTTT 0.622000 59 117 0 0 0.003610 0 0 PGR 5241 broad.mit.edu 37 11 100912815 100912815 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:100912815C>T ENST00000325455.5 - 7 3960 c.2507G>A c.(2506-2508)cGa>cAa p.R836Q PGR_ENST00000263463.5_Missense_Mutation_p.R734Q|PGR_ENST00000534013.1_Missense_Mutation_p.R242Q NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 836 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.R836Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GGTTTGACTTCGTAGCCCTTC 0.383000 18 29 0 0 0.001523 0 0 KLKB1 3818 broad.mit.edu 37 4 187157998 187157998 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:187157998T>G ENST00000264690.6 + 5 579 c.392T>G c.(391-393)gTt>gGt p.V131G KLKB1_ENST00000513864.1_Missense_Mutation_p.V131G NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 131 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GTGTCTAAGGTTAGCAGTGTT 0.393000 20 50 0 0 0.008871 0 0 ARHGAP5 394 broad.mit.edu 37 14 32615492 32615492 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:32615492C>T ENST00000345122.3 + 4 4204 c.3889C>T c.(3889-3891)Cgt>Tgt p.R1297C ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R1296C|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.R36C|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.R32C|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R1296C|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R1297C NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1297 Rho-GAP. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.R1297C(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGGACTCTACCGTGTCAGCGG 0.353000 12 29 0 0 0.002450 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33410236 33410236 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:33410236C>T ENST00000418600.2 + 14 2402 c.2301C>T c.(2299-2301)atC>atT p.I767I SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.I708I|SYNGAP1_ENST00000293748.5_Silent_p.I767I NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 767 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CCAGCTCCATCGACCTTCAGT 0.592000 46 129 0 0 0.003610 0 0 MYH7 4625 broad.mit.edu 37 14 23902789 23902789 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:23902789G>A ENST00000355349.3 - 3 315 c.153C>T c.(151-153)atC>atT p.I51I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 51 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCGAGACACGATCTTGGCCT 0.557000 54 104 0 0 0.003610 0 0 OR2A5 393046 broad.mit.edu 37 7 143747845 143747845 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143747845G>A ENST00000408906.2 + 1 385 c.351G>A c.(349-351)atG>atA p.M117I NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCTTGGTAATGATGTCCTACG 0.458000 44 120 0 0 0.002852 0 0 DPYD 1806 broad.mit.edu 37 1 98164976 98164976 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:98164976G>A ENST00000370192.3 - 6 711 c.611C>T c.(610-612)tCc>tTc p.S204F DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 204 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGCCAAAAAGGAAGCACAACT 0.393000 29 75 0 0 0.001786 0 0 TOP3B 8940 broad.mit.edu 37 22 22322018 22322018 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:22322018G>A ENST00000398793.2 - 8 1243 c.809C>T c.(808-810)gCa>gTa p.A270V TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.A270V NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 270 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AAACATCTGTGCGATCTCCCG 0.502000 28 67 0 0 0.001786 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209195 71209195 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:71209195C>T ENST00000554752.2 - 6 1439 c.1440G>A c.(1438-1440)ctG>ctA p.L480L MAP3K9_ENST00000553414.1_Silent_p.L174L|MAP3K9_ENST00000554146.1_Silent_p.L217L|MAP3K9_ENST00000381250.4_Silent_p.L480L|MAP3K9_ENST00000555993.2_Silent_p.L480L P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 480 Leucine-zipper 2. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCTCCCGTTCCAGGATGTCAA 0.622000 12 36 0 0 0.001368 0 0 FAM83B 222584 broad.mit.edu 37 6 54805432 54805432 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:54805432G>A ENST00000306858.7 + 5 1779 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 555 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) TGAGCAAAAGGAAGTTAACAG 0.428000 14 32 0 0 0.003163 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163545 32163545 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:32163545C>T ENST00000564145.1 - 0 65 CCAAACTCATCGTGCACAATT 0.582000 9 71 0 0 0.008291 0 0 PDE6G 5148 broad.mit.edu 37 17 79620265 79620265 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:79620265C>T ENST00000573076.1 - 2 696 c.221G>A c.(220-222)aGg>aAg p.R74K PDE6G_ENST00000331056.5_Missense_Mutation_p.R24K|PDE6G_ENST00000571004.1_Missense_Mutation_p.R24K|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.R24K P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma 24 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 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) GGGCCCTTTCCTGGGGGTGAC 0.627000 45 91 0 0 0.003610 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31125012 31125012 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:31125012G>A ENST00000304166.4 + 9 913 c.624G>A c.(622-624)tgG>tgA p.W208* ADCYAP1R1_ENST00000396211.2_Nonsense_Mutation_p.W208*|ADCYAP1R1_ENST00000409363.1_Nonsense_Mutation_p.W187*|ADCYAP1R1_ENST00000409489.1_Nonsense_Mutation_p.W208* NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 208 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity p.W208C(1) endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TCAAAGACTGGATTCTGTATG 0.547000 103 83 0 0 0.003610 0 0 SLC22A9 114571 broad.mit.edu 37 11 63143178 63143178 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:63143178G>A ENST00000279178.3 + 5 1141 c.892G>A c.(892-894)Gaa>Aaa p.E298K SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 298 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AGGCTTAAAGGAACTTAGAAA 0.498000 19 49 0 0 0.006122 0 0 PTK2 5747 broad.mit.edu 37 8 141900847 141900847 + Translation_Start_Site SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:141900847G>C ENST00000522684.1 - 0 219 PTK2_ENST00000521059.1_De_novo_Start_OutOfFrame|PTK2_ENST00000520892.1_De_novo_Start_OutOfFrame|PTK2_ENST00000517887.1_Missense_Mutation_p.S41C|PTK2_ENST00000519881.1_De_novo_Start_OutOfFrame|PTK2_ENST00000519419.1_Missense_Mutation_p.S41C|PTK2_ENST00000340930.3_De_novo_Start_OutOfFrame|PTK2_ENST00000535192.1_De_novo_Start_OutOfFrame|PTK2_ENST00000395218.2_De_novo_Start_OutOfFrame NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TATTTTGCTAGATGCTAGGTA 0.348000 32 44 0 0 0.002445 0 0 CSMD1 64478 broad.mit.edu 37 8 3889592 3889592 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:3889592C>T ENST00000602557.1 - 4 1000 c.445G>A c.(445-447)Gga>Aga p.G149R CSMD1_ENST00000400186.3_Missense_Mutation_p.G149R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G149R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G149R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G149R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G149R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G149R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 149 Sushi 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGATTTCTCCAGGATTTCCA 0.413000 13 45 0 0 0.001368 0 0 ARHGAP1 392 broad.mit.edu 37 11 46702856 46702856 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:46702856T>C ENST00000311956.4 - 6 620 c.523A>G c.(523-525)Aag>Gag p.K175E NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 175 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) ATGAGGGGCTTGAAGAGGATG 0.567000 24 75 0 0 0.007291 0 0 NUTM1 256646 broad.mit.edu 37 15 34640675 34640675 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:34640675C>T ENST00000537011.1 + 3 988 c.606C>T c.(604-606)ccC>ccT p.P202P NUTM1_ENST00000333756.4_Silent_p.P174P|NUTM1_ENST00000438749.3_Silent_p.P192P NUT midline carcinoma, family member 1 CCATTGTGCCCCTGGAAAAAG 0.597000 9 19 0 0 0.006214 0 0 CUZD1 50624 broad.mit.edu 37 10 124595698 124595698 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:124595698C>T ENST00000368904.1 - 8 1935 c.986G>A c.(985-987)aGa>aAa p.R329K CUZD1_ENST00000392790.1_Missense_Mutation_p.R329K|CUZD1_ENST00000545804.1_Missense_Mutation_p.R329K Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 329 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CTTTACCTTTCTGATTGTACC 0.388000 29 36 0 0 0.002836 0 0 CHRD 8646 broad.mit.edu 37 3 184102390 184102390 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:184102390C>T ENST00000204604.1 + 13 1752 c.1506C>T c.(1504-1506)ttC>ttT p.F502F EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.F132F|CHRD_ENST00000348986.3_Silent_p.F462F|CHRD_ENST00000450923.1_Silent_p.F502F NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 502 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGAGCTCTTCCTGAACGTGG 0.647000 60 49 0 0 0.003610 0 0 PFDN2 5202 broad.mit.edu 37 1 161071905 161071905 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:161071905A>C ENST00000368010.3 - 3 305 c.221T>G c.(220-222)gTt>gGt p.V74G PFDN2_ENST00000468311.1_Intron NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 74 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CACTCCTCCAACCATGCGGTA 0.517000 16 98 0 0 0.004990 0 0 ERC2 26059 broad.mit.edu 37 3 56207483 56207483 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:56207483G>A ENST00000288221.6 - 4 1395 c.1140C>T c.(1138-1140)atC>atT p.I380I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 380 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCTTCATTTCGATGACAGTCT 0.468000 26 44 0 0 0.006320 0 0 KMT2C 58508 broad.mit.edu 37 7 151878118 151878118 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:151878118G>A ENST00000355193.2 - 36 7045 c.6827C>T c.(6826-6828)cCt>cTt p.P2276L KMT2C_ENST00000262189.6_Missense_Mutation_p.P2276L lysine (K)-specific methyltransferase 2C AGGGGGCCTAGGTGTCTGGGA 0.532000 29 59 0 0 0.001786 0 0 ABCA13 154664 broad.mit.edu 37 7 48349586 48349586 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:48349586G>A ENST00000435803.1 + 24 9388 c.9364G>A c.(9364-9366)Gat>Aat p.D3122N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3122 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 TGGAAAGTGTGATCAGGAAAT 0.478000 25 154 0 0 0.004656 0 0 LRRC66 339977 broad.mit.edu 37 4 52861055 52861055 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:52861055G>A ENST00000343457.3 - 4 2139 c.2133C>T c.(2131-2133)ttC>ttT p.F711F NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 711 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AGCTCAGAGTGAACAGAGACC 0.527000 34 49 0 0 0.003755 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265234 42265234 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:42265234G>A ENST00000199764.6 + 3 720 c.502G>A c.(502-504)Gaa>Aaa p.E168K AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 168 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CTTCACCTGTGAACCTGAGGT 0.567000 80 142 0 0 0.003610 0 0 MDN1 23195 broad.mit.edu 37 6 90468564 90468564 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:90468564G>A ENST00000369393.3 - 18 2691 c.2576C>T c.(2575-2577)tCc>tTc p.S859F MDN1_ENST00000428876.1_Missense_Mutation_p.S859F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 859 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAACACCAGGGATCCAGAAGA 0.458000 23 38 0 0 0.003330 0 0 PRKCG 5582 broad.mit.edu 37 19 54394975 54394975 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:54394975G>A ENST00000263431.3 + 6 859 c.577G>A c.(577-579)Gat>Aat p.D193N PRKCG_ENST00000542049.1_Missense_Mutation_p.D80N|PRKCG_ENST00000540413.1_Missense_Mutation_p.D193N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D193N NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 193 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding p.D193N(1) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TGGTCTCTCTGATCCCTATGT 0.537000 40 101 0 0 0.002852 0 0 TTN 7273 broad.mit.edu 37 2 179597667 179597667 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179597667G>A ENST00000589042.1 - 55 16460 c.16236C>T c.(16234-16236)gcC>gcT p.A5412A TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.A5095A|TTN_ENST00000342992.6_Silent_p.A4168A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5095 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) TCTCCAAAGAGGCTGTGCCTT 0.483000 29 14 0 0 0.006320 0 0 ZNF556 80032 broad.mit.edu 37 19 2877909 2877909 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:2877909G>A ENST00000586426.1 + 4 1037 c.950G>A c.(949-951)gGa>gAa p.G317E ZNF556_ENST00000307635.2_Missense_Mutation_p.G318E Q9HAH1 ZN556_HUMAN zinc finger protein 556 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) TATAAGTGTGGAAAATGCGGG 0.507000 27 41 0 0 0.007291 0 0 CREBRF 153222 broad.mit.edu 37 5 172517345 172517345 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:172517345C>T ENST00000540014.1 + 4 482 c.163C>T c.(163-165)Cct>Tct p.P55S CREBRF_ENST00000520420.1_Missense_Mutation_p.P55S|CREBRF_ENST00000296953.2_Missense_Mutation_p.P55S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P55S Q8IUR6 CE041_HUMAN CREB3 regulatory factor 55 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CCAACAGAATCCTAGAGACAA 0.373000 18 20 0 0 0.007413 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914706 94914706 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:94914706T>G ENST00000334708.3 - 2 470 c.406A>C c.(406-408)Aaa>Caa p.K136Q RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 136 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.K318*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TTTCCTACTTTTAGTTCGAGT 0.532000 80 73 0 0 0.003610 0 0 HDAC11 79885 broad.mit.edu 37 3 13543387 13543387 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:13543387T>G ENST00000295757.3 + 7 689 c.506T>G c.(505-507)gTg>gGg p.V169G HDAC11_ENST00000522202.1_Missense_Mutation_p.V118G|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.V141G|HDAC11_ENST00000433119.1_Missense_Mutation_p.W127G|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402271.1_Missense_Mutation_p.V90G NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 169 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 TTTGAGCGTGTGGAGGGCATC 0.612000 33 85 0 0 0.006999 0 0 DSP 1832 broad.mit.edu 37 6 7583627 7583627 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:7583627C>T ENST00000379802.3 + 24 6473 c.6132C>T c.(6130-6132)tcC>tcT p.S2044S DSP_ENST00000418664.2_Silent_p.S1445S NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2044 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCCCAGAATCCACAGTCATGC 0.502000 26 146 0 0 0.005443 0 0 ANKIB1 54467 broad.mit.edu 37 7 91936786 91936786 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:91936786C>T ENST00000265742.3 + 3 678 c.302C>T c.(301-303)cCt>cTt p.P101L NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 101 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCCCTTCATCCTCGCTTGGCA 0.418000 34 78 0 0 0.003271 0 0 SLC13A2 9058 broad.mit.edu 37 17 26800787 26800787 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:26800787C>T ENST00000444914.3 + 1 477 c.57C>T c.(55-57)ttC>ttT p.F19F SLC13A2_ENST00000545060.1_Silent_p.F19F|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Silent_p.F19F NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 19 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TCGTGTTCTTCGTGCCCATTC 0.607000 10 21 0 0 0.001368 0 0 ARL2 402 broad.mit.edu 37 11 64785862 64785862 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:64785862C>T ENST00000246747.4 + 2 187 c.92C>T c.(91-93)aCc>aTc p.T31I SNX15_ENST00000301886.3_3'UTR|ARL2_ENST00000533729.1_Missense_Mutation_p.T31I|ARL2_ENST00000529384.1_Missense_Mutation_p.T31I NM_001667.3 NP_001658.2 P36404 ARL2_HUMAN ADP-ribosylation factor-like 2 31 cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus GTP binding|GTPase activity|GTPase inhibitor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 5 GGAAAGACAACCATCCTGAAG 0.582000 4 9 0 0 0.000248 0 0 USP19 10869 broad.mit.edu 37 3 49149150 49149150 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:49149150G>A ENST00000453664.1 - 21 3282 c.2964C>T c.(2962-2964)tcC>tcT p.S988S USP19_ENST00000398898.2_Silent_p.S937S|USP19_ENST00000398896.1_Silent_p.S705S|USP19_ENST00000434032.2_Silent_p.S998S|USP19_ENST00000398892.3_Silent_p.S937S|USP19_ENST00000398888.2_Silent_p.S897S|USP19_ENST00000417901.1_Silent_p.S1000S NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 897 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCCTCCAGGGAACCTGTGG 0.637000 20 47 0 0 0.002299 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281594 103281594 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:103281594G>A ENST00000233969.2 + 3 931 c.789G>A c.(787-789)atG>atA p.M263I NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 263 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTTGCCAGATGAAAACCATTG 0.463000 84 53 0 0 0.003610 0 0 GLG1 2734 broad.mit.edu 37 16 74493682 74493682 + Silent SNP G G A rs139538436 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:74493682G>A ENST00000422840.2 - 23 3041 c.3042C>T c.(3040-3042)tcC>tcT p.S1014S GLG1_ENST00000205061.5_Silent_p.S1014S|GLG1_ENST00000447066.2_Silent_p.S1003S NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1014 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CACATAGACTGGAGATCTGTT 0.423000 10 17 0 0 0.000978 0 0 BAAT 570 broad.mit.edu 37 9 104133228 104133228 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:104133228G>A ENST00000259407.2 - 2 567 c.459C>T c.(457-459)ctC>ctT p.L153L BAAT_ENST00000395051.3_Silent_p.L153L NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 153 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CACCTGGAGGGAGAAAGAGAG 0.438000 31 36 0 0 0.003271 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490332 141490332 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:141490332C>T ENST00000247883.4 + 1 316 c.171C>T c.(169-171)ctC>ctT p.L57L NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 57 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) GCCGATTTCTCCTGCAGTGGC 0.483000 30 56 0 0 0.002096 0 0 OR51B5 282763 broad.mit.edu 37 11 5363817 5363817 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5363817C>T ENST00000300773.2 - 1 992 c.938G>A c.(937-939)tGa>tAa p.*313* HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTGGAGATCAGGTTCCAAT 0.383000 11 26 0 0 0.000978 0 0 ANO5 203859 broad.mit.edu 37 11 22242716 22242716 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:22242716C>T ENST00000324559.8 + 5 571 c.254C>T c.(253-255)tCc>tTc p.S85F NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 85 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTTGTGCTTTCCTACGTTGAT 0.343000 9 34 0 0 0.008291 0 0 CSMD3 114788 broad.mit.edu 37 8 114290842 114290842 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:114290842C>T ENST00000297405.5 - 3 737 c.493G>A c.(493-495)Gga>Aga p.G165R CSMD3_ENST00000343508.3_Missense_Mutation_p.G125R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G165R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G165R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 165 CUB 1. 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 ACCTTAAATCCATGAGCACTA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 31 0 0 0.002450 0 0 ALX3 257 broad.mit.edu 37 1 110604123 110604123 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:110604123C>T ENST00000369792.4 - 3 744 c.657G>A c.(655-657)gaG>gaA p.E219E RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGTTCCGCCCCTCCTGGATCT 0.627000 23 77 0 0 0.004656 0 0 OR56A4 120793 broad.mit.edu 37 11 6023588 6023588 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:6023588G>A ENST00000330728.4 - 1 836 c.791C>T c.(790-792)tCt>tTt p.S264F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATAAGATCAGAGCCCAACAG 0.463000 16 25 0 0 0.003163 0 0 HIVEP1 3096 broad.mit.edu 37 6 12121520 12121520 + Nonsense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:12121520G>T ENST00000379388.2 + 4 1824 c.1492G>T c.(1492-1494)Gaa>Taa p.E498* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 498 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAGCGAGGAGGAAGGCGCCAC 0.502000 27 39 7.92952e-12 9.53744e-12 0.003954 1 0 DAB1 1600 broad.mit.edu 37 1 57476931 57476931 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:57476931G>A ENST00000371236.2 - 13 1722 c.1459C>T c.(1459-1461)Cct>Tct p.P487S DAB1_ENST00000420954.2_Missense_Mutation_p.P485S|DAB1_ENST00000371234.4_Missense_Mutation_p.P487S|DAB1_ENST00000414851.2_Missense_Mutation_p.P469S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P520S|DAB1_ENST00000439789.2_Missense_Mutation_p.P401S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 520 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTCTGTCTAGGGGCTGGGGTT 0.478000 41 86 0 0 0.003214 0 0 STOML3 161003 broad.mit.edu 37 13 39550716 39550716 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:39550716G>A ENST00000379631.4 - 3 534 c.190C>T c.(190-192)Cgt>Tgt p.R64C STOML3_ENST00000423210.1_Missense_Mutation_p.R55C NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 64 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CGTCCCAGACGGAATACAACA 0.473000 17 21 0 0 0.008871 0 0 NPY5R 4889 broad.mit.edu 37 4 164272412 164272412 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:164272412C>T ENST00000515560.1 + 4 2509 c.987C>T c.(985-987)ttC>ttT p.F329F NPY5R_ENST00000338566.3_Silent_p.F329F|NPY5R_ENST00000506953.1_Silent_p.F329F Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 329 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CCAGTAAGTTCATACCAGGGG 0.393000 18 37 0 0 0.001523 0 0 OR2T1 26696 broad.mit.edu 37 1 248569979 248569979 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:248569979C>T ENST00000366474.1 + 1 684 c.684C>T c.(682-684)ttC>ttT p.F228F NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCACTTCTTCTGTGAGGCAC 0.512000 24 108 0 0 0.003954 0 0 PSG3 5671 broad.mit.edu 37 19 43236937 43236937 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:43236937G>A ENST00000327495.5 - 3 892 c.709_splice c.e3+1 p.L236_splice PSG3_ENST00000595140.1_Splice_Site_p.L236_splice NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 236 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GATACTCACGGAGGAGATTCA 0.537000 106 202 0 0 0.003610 0 0 GCM2 9247 broad.mit.edu 37 6 10875048 10875048 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:10875048G>A ENST00000379491.4 - 5 848 c.701C>T c.(700-702)tCc>tTc p.S234F RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 234 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CTTTGGGAAGGAAGGGCAAGG 0.453000 56 73 0 0 0.003610 0 0 BDKRB2 624 broad.mit.edu 37 14 96706806 96706806 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:96706806C>T ENST00000542454.2 + 3 3148 c.60C>T c.(58-60)tgC>tgT p.C20C BDKRB2_ENST00000539359.1_Silent_p.C20C|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.C47C|BDKRB2_ENST00000306005.3_Silent_p.C47C P30411 BKRB2_HUMAN bradykinin receptor B2 47 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) AGAGCAAATGCCCCCAAGTGG 0.577000 57 59 0 0 0.003610 0 0 KCNQ1 3784 broad.mit.edu 37 11 2608822 2608822 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:2608822C>T ENST00000155840.5 + 9 1259 c.1151C>T c.(1150-1152)gCc>gTc p.A384V KCNQ1_ENST00000335475.5_Missense_Mutation_p.A257V NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 384 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TGCTATGCTGCCGAGAACCCC 0.647000 88 224 0 0 0.003610 0 0 CHP2 63928 broad.mit.edu 37 16 23768600 23768600 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:23768600G>A ENST00000300113.2 + 6 916 c.493G>A c.(493-495)Gat>Aat p.D165N NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 165 EF-hand 4. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) GCAGGAGGCTGATGAAGATGG 0.567000 15 36 0 0 0.002450 0 0 FBXL7 23194 broad.mit.edu 37 5 15936668 15936668 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:15936668C>T ENST00000504595.1 + 4 1330 c.849C>T c.(847-849)ttC>ttT p.F283F FBXL7_ENST00000329673.7_Silent_p.F271F|FBXL7_ENST00000510662.1_Silent_p.F236F NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 283 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CGGACTGCTTCGTGCTGGAGG 0.617000 32 23 0 0 0.004289 0 0 OR13G1 441933 broad.mit.edu 37 1 247836293 247836293 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:247836293C>T ENST00000359688.2 - 1 72 c.51G>A c.(49-51)aaG>aaA p.K17K RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGAGTTCAGGCTTTTTGGTGA 0.398000 17 85 0 0 0.008871 0 0 NEGR1 257194 broad.mit.edu 37 1 72076757 72076757 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:72076757C>T ENST00000357731.4 - 5 979 c.740G>A c.(739-741)gGt>gAt p.G247D NEGR1_ENST00000434200.1_Missense_Mutation_p.G201D|NEGR1_ENST00000306821.3_Missense_Mutation_p.G119D NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 247 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CACACCTGCACCTTCACATCT 0.453000 31 79 0 0 0.002836 0 0 RHBDL1 9028 broad.mit.edu 37 16 727513 727513 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:727513G>A ENST00000219551.2 + 5 965 c.938G>A c.(937-939)gGc>gAc p.G313D RHBDL1_ENST00000352681.3_Missense_Mutation_p.G248D O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 313 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) GGAGGCTCCGGCGGGGTCTAC 0.721000 11 25 0 0 0.002450 0 0 OR51B4 79339 broad.mit.edu 37 11 5322301 5322301 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5322301C>T ENST00000380224.1 - 1 925 c.876G>A c.(874-876)aaG>aaA p.K292K HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 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) TCTGCTTGGTCTTGATGCTAT 0.433000 11 51 0 0 0.008291 0 0 ADH7 131 broad.mit.edu 37 4 100349108 100349108 + Missense_Mutation SNP C C T rs72552718 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:100349108C>T ENST00000437033.2 - 5 889 c.386G>A c.(385-387)aGa>aAa p.R129K ADH7_ENST00000482593.1_Missense_Mutation_p.R72K|ADH7_ENST00000476959.1_Missense_Mutation_p.R149K|ADH7_ENST00000209665.4_Missense_Mutation_p.R141K P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 141 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) GCATGTAAATCTGGTGGTGCC 0.383000 37 85 0 0 0.006999 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611694 84611694 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:84611694G>A ENST00000286744.5 + 19 2574 c.2350G>A c.(2350-2352)Gtc>Atc p.V784I ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V784I NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 784 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAACAGAAGAGTCACCTGTCG 0.547000 14 36 0 0 0.001855 0 0 LAMTOR2 28956 broad.mit.edu 37 1 156028139 156028139 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:156028139C>T ENST00000368305.4 + 4 493 c.355C>T c.(355-357)Ctc>Ttc p.L119F LAMTOR2_ENST00000368302.3_Missense_Mutation_p.P131L|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.L89F NM_014017.3 NP_054736.1 Q9Y2Q5 LTOR2_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 119 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 GGAGGAGCCCCTCACCCAAGT 0.572000 67 138 0 0 0.003610 0 0 TMC4 147798 broad.mit.edu 37 19 54676765 54676765 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:54676765C>T ENST00000376591.4 - 1 179 c.48G>A c.(46-48)agG>agA p.R16R TMC4_ENST00000301187.4_Silent_p.R16R NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 16 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCAGCCACCCCCTAGAGGAGC 0.632000 37 104 0 0 0.003610 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032718 46032718 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:46032718C>T ENST00000334662.2 + 1 723 c.701C>T c.(700-702)tCc>tTc p.S234F TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 234 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 cctgcctcctcctgccagccc 0.711000 11 22 0 0 0.008291 0 0 OR52E6 390078 broad.mit.edu 37 11 5862440 5862440 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5862440G>A ENST00000329322.5 - 1 687 c.688C>T c.(688-690)Ccc>Tcc p.P230S OR52E6_ENST00000379946.2_Missense_Mutation_p.P234S|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCCAGGAGGGCAGGCAGAAG 0.433000 16 30 0 0 0.003163 0 0 ITLN2 142683 broad.mit.edu 37 1 160920382 160920382 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:160920382G>A ENST00000368029.3 - 5 618 c.561C>T c.(559-561)ttC>ttT p.F187F ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 187 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTCTCTGGAGGAAGCCAGTGT 0.567000 78 129 0 0 0.003610 0 0 PROKR2 128674 broad.mit.edu 37 20 5282768 5282768 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:5282768C>T ENST00000546004.1 - 3 1319 c.1073G>A c.(1072-1074)gGg>gAg p.G358E PROKR2_ENST00000217270.3_Missense_Mutation_p.G358E Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 358 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GGACTTGCTCCCCCGCTGGGA 0.547000 HNSCC(71;0.22) 16 59 0 0 0.004990 0 0 DOCK8 81704 broad.mit.edu 37 9 463581 463581 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:463581G>A ENST00000432829.2 + 47 6245 c.5929G>A c.(5929-5931)Gaa>Aaa p.E1977K RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1945K|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1512K|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.E2045K|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2045 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATATCAGCAGGAACTCAAAAA 0.413000 25 47 0 0 0.003330 0 0 ANK2 287 broad.mit.edu 37 4 114277367 114277367 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:114277367A>G ENST00000357077.4 + 38 7646 c.7593A>G c.(7591-7593)tcA>tcG p.S2531S ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.S2498S|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2498 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGAGAGCTCAGGGAAGAGCC 0.547000 32 79 0 0 0.002836 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469223 21469223 + Missense_Mutation SNP G G A rs144375696 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:21469223G>A ENST00000298681.4 + 4 572 c.415G>A c.(415-417)Gaa>Aaa p.E139K SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 139 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) AGTGCAGGACGAAGAATGGGG 0.547000 42 108 0 0 0.002222 0 0 ITIH1 3697 broad.mit.edu 37 3 52821082 52821082 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:52821082G>A ENST00000273283.2 + 14 1879 c.1855G>A c.(1855-1857)Ggc>Agc p.G619S ITIH1_ENST00000540715.1_Missense_Mutation_p.G477S|ITIH1_ENST00000542827.1_Missense_Mutation_p.G619S|ITIH1_ENST00000537050.1_Missense_Mutation_p.G331S NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 619 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GGACCAGGACGGCCTGAAGCC 0.592000 26 71 0 0 0.002836 0 0 PEAR1 375033 broad.mit.edu 37 1 156874579 156874579 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:156874579C>T ENST00000338302.3 + 4 366 c.141C>T c.(139-141)ttC>ttT p.F47F PEAR1_ENST00000292357.7_Silent_p.F47F Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 47 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCGCCCCTTCAGCCTGCTCC 0.677000 21 100 0 0 0.002780 0 0 DNAH5 1767 broad.mit.edu 37 5 13776579 13776579 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:13776579G>A ENST00000265104.4 - 55 9446 c.9342C>T c.(9340-9342)ttC>ttT p.F3114F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3114 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) GCCATCGGCTGAACCAGTCAA 0.448000 Kartagener syndrome 104 42 0 0 0.003610 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814973 54814973 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:54814973C>T ENST00000585477.1 + 1 681 c.430C>T c.(430-432)Ctg>Ttg p.L144L NM_001257964.1 NP_001244893.1 biorientation of chromosomes in cell division 1-like 2 TCATGAATTCCTGGTGGCCCA 0.507000 9 17 0 0 0.006214 0 0 NMRK2 27231 broad.mit.edu 37 19 3941087 3941087 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:3941087C>T ENST00000168977.2 + 7 704 c.414C>T c.(412-414)gtC>gtT p.V138V NMRK2_ENST00000593949.1_Silent_p.V143V|NMRK2_ENST00000599576.1_Intron NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 ACTACACAGTCCCTGATCCCC 0.582000 48 108 0 0 0.003610 0 0 SLC4A3 6508 broad.mit.edu 37 2 220496989 220496989 + Silent SNP C C T rs145141849 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:220496989C>T ENST00000358055.3 + 8 1478 c.966C>T c.(964-966)ttC>ttT p.F322F SLC4A3_ENST00000373762.3_Silent_p.F349F|SLC4A3_ENST00000273063.6_Silent_p.F349F|SLC4A3_ENST00000373760.2_Silent_p.F322F|SLC4A3_ENST00000317151.3_Silent_p.F322F|SLC4A3_ENST00000497589.1_3'UTR P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 322 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCAGGTGTTCGTGGAGCTGA 0.672000 41 23 0 0 0.007835 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956201 18956201 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:18956201C>T ENST00000302797.3 - 1 355 c.131G>A c.(130-132)gGa>gAa p.G44E MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 44 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AACTGCGTTTCCTGTCAGCCC 0.567000 56 296 0 0 0.003610 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:123301320G>A ENST00000296513.2 + 3 281 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 32 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 26 49 0 0 0.005443 0 0 TMEM239 100288797 broad.mit.edu 37 20 2796002 2796002 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:2796002G>A ENST00000554164.1 + 2 255 c.172G>A c.(172-174)Gga>Aga p.G58R TMEM239_ENST00000380593.4_Missense_Mutation_p.G58R|C20orf141_ENST00000603872.1_Missense_Mutation_p.G58R|C20orf141_ENST00000380589.4_Missense_Mutation_p.G58R Q8WW34 Q8WW34_HUMAN transmembrane protein 239 92 GGGGGCACTAGGACTGACAAT 0.612000 42 98 0 0 0.003214 0 0 STH 246744 broad.mit.edu 37 17 44076811 44076811 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:44076811T>G ENST00000537309.1 + 1 196 c.166T>G c.(166-168)Tcc>Gcc p.S56A MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 56 cytoplasm|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGAAGTAGCTTCCCTGTTGAC 0.522000 15 40 0 0 0.002450 0 0 CAT 847 broad.mit.edu 37 11 34473726 34473726 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:34473726C>T ENST00000241052.4 + 4 541 c.452C>T c.(451-453)cCc>cTc p.P151L NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 151 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) AATAACACCCCCATTTTCTTC 0.413000 12 50 0 0 0.000978 0 0 TYRO3 7301 broad.mit.edu 37 15 41861141 41861141 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:41861141C>T ENST00000263798.3 + 9 1397 c.1173C>T c.(1171-1173)atC>atT p.I391I TYRO3_ENST00000559066.1_Silent_p.I346I NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 391 Fibronectin type-III 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) AGGACCTGATCGTACGTGTGT 0.587000 15 30 0 0 0.002450 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031781 132031781 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:132031781C>T ENST00000314099.8 - 1 425 c.377G>A c.(376-378)cGa>cAa p.R126Q ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 126 integral to membrane endometrium(1)|lung(1) 2 CTCCAAACTTCGTGCTTCTTC 0.403000 50 121 0 0 0.003610 0 0 OR5M11 219487 broad.mit.edu 37 11 56310405 56310405 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:56310405T>G ENST00000528616.2 - 1 352 c.329A>C c.(328-330)gAg>gCg p.E110A NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CATGTAAAACTCAGTGAGTAG 0.473000 10 28 0 0 0.008291 0 0 HNF4G 3174 broad.mit.edu 37 8 76471192 76471192 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:76471192A>T ENST00000396423.2 + 8 1137 c.1013A>T c.(1012-1014)cAa>cTa p.Q338L HNF4G_ENST00000354370.1_Missense_Mutation_p.Q301L NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 301 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ATCACGTGGCAAATGATTGAG 0.428000 30 81 0 0 0.008361 0 0 KPRP 448834 broad.mit.edu 37 1 152732591 152732591 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152732591G>A ENST00000368773.1 + 2 585 c.527G>A c.(526-528)gGa>gAa p.G176E KPRP_ENST00000606109.1_Missense_Mutation_p.G176E NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 176 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCCTCAGGGAAGATTCTCC 0.542000 23 128 0 0 0.002780 0 0 GTPBP2 54676 broad.mit.edu 37 6 43589866 43589866 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:43589866G>A ENST00000307126.5 - 11 1505 c.1506C>T c.(1504-1506)atC>atT p.I502I GTPBP2_ENST00000307114.7_Silent_p.I414I|GTPBP2_ENST00000476510.1_5'UTR NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 502 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) ACACCGAGCAGATGGTAGGAT 0.577000 20 64 0 0 0.008871 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324641 61324641 + Missense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:61324641T>A ENST00000283752.5 - 6 618 c.475A>T c.(475-477)Att>Ttt p.I159F SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.I159F NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 159 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 AGGTTTTTAATTTTTTCTGCA 0.348000 29 55 0 0 0.001786 0 0 AGAP1 116987 broad.mit.edu 37 2 236706445 236706445 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:236706445C>T ENST00000409538.1 + 7 2007 c.1511C>T c.(1510-1512)tCc>tTc p.S504F AGAP1_ENST00000409457.1_Missense_Mutation_p.S239F|AGAP1_ENST00000304032.7_Missense_Mutation_p.S239F|AGAP1_ENST00000428334.2_Missense_Mutation_p.S78F|AGAP1_ENST00000336665.5_Missense_Mutation_p.S239F Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 239 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CAGCAGCTGTCCATAGGACCC 0.502000 162 86 0 0 0.003610 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763932 92763932 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:92763932C>T ENST00000318238.4 - 5 2569 c.1353G>A c.(1351-1353)atG>atA p.M451I SAMD9L_ENST00000411955.1_Missense_Mutation_p.M451I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M451I NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 451 p.M451I(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTCCATTGATCATAGATTCAG 0.343000 15 45 0 0 0.004007 0 0 TNR 7143 broad.mit.edu 37 1 175375428 175375428 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:175375428G>A ENST00000367674.1 - 3 1131 c.423C>T c.(421-423)atC>atT p.I141I TNR_ENST00000263525.2_Silent_p.I141I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 141 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.I141I(1) 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) CCAGCATCTCGATCCGGCTCA 0.597000 26 86 0 0 0.003954 0 0 SUPT5H 6829 broad.mit.edu 37 19 39963960 39963960 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:39963960C>T ENST00000599117.1 + 25 2743 c.2376C>T c.(2374-2376)ccC>ccT p.P792P SUPT5H_ENST00000402194.2_Silent_p.P788P|SUPT5H_ENST00000359191.6_Silent_p.P788P|SUPT5H_ENST00000598725.1_Silent_p.P792P|SUPT5H_ENST00000432763.2_Silent_p.P792P O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 792 9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CACAGACACCCCTCCAGGATG 0.617000 38 70 0 0 0.002222 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390289 61390289 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:61390289G>A ENST00000544088.1 + 0 897 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TAACATGATGGAAAGAGAAGT 0.418000 3 10 0 0 0.000248 0 0 EHMT2 10919 broad.mit.edu 37 6 31855988 31855988 + Silent SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:31855988A>T ENST00000395728.3 - 12 1745 c.1746T>A c.(1744-1746)tcT>tcA p.S582S EHMT2_ENST00000375530.4_Silent_p.S491S|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.S548S|EHMT2_ENST00000375537.4_Silent_p.S525S Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 525 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CATTCAGCTGAGACACACAGG 0.627000 85 351 0 0 0.003610 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457365 45457365 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:45457365C>T ENST00000548424.1 + 0 448 GGAACAGACTCCCTGTGACAG 0.473000 16 24 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179464508 179464508 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179464508T>C ENST00000589042.1 - 289 56344 c.56120A>G c.(56119-56121)aAa>aGa p.K18707R TTN_ENST00000359218.5_Missense_Mutation_p.K9767R|TTN_ENST00000342175.6_Missense_Mutation_p.K9834R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17066R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16139R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9642R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17066 Fibronectin type-III 35. 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) ACCTTTAATTTTGGCCACAAT 0.383000 60 31 0 0 0.003610 0 0 MAP2 4133 broad.mit.edu 37 2 210557362 210557362 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:210557362C>T ENST00000447185.1 + 4 456 c.454_splice c.e4-1 p.A152_splice MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000360351.4_Silent_p.A156A|MAP2_ENST00000392194.1_Intron P11137 MAP2_HUMAN microtubule-associated protein 2 156 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TACTTACAGCCTCGAAGATGG 0.393000 28 18 0 0 0.004656 0 0 NETO1 81832 broad.mit.edu 37 18 70417358 70417358 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:70417358C>T ENST00000327305.6 - 9 2137 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K NETO1_ENST00000583169.1_Missense_Mutation_p.E494K|NETO1_ENST00000299430.2_Missense_Mutation_p.E493K NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 494 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCTTCGATTTCATCTATGTCA 0.473000 11 42 0 0 0.008291 0 0 UNC13C 440279 broad.mit.edu 37 15 54825229 54825229 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:54825229T>C ENST00000545554.1 + 25 5661 c.5661T>C c.(5659-5661)atT>atC p.I1887I UNC13C_ENST00000537900.1_Silent_p.I1885I|UNC13C_ENST00000260323.11_Silent_p.I1887I Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1887 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGCAGAGATTGTGTTAAGAT 0.338000 6 8 0 0 0.003080 0 0 OR5B2 390190 broad.mit.edu 37 11 58190410 58190410 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:58190410C>T ENST00000302581.2 - 1 376 c.325G>A c.(325-327)Gaa>Aaa p.E109K NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAGTAATTTTCCACCGTGGCC 0.517000 20 53 0 0 0.001882 0 0 USH2A 7399 broad.mit.edu 37 1 216424272 216424272 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:216424272G>A ENST00000366943.2 - 12 2526 c.2140C>T c.(2140-2142)Cag>Tag p.Q714* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q714*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q714* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 714 Laminin EGF-like 4. 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) CACTTGCACTGGCCTGAATTT 0.408000 HNSCC(13;0.011) 12 48 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9090467 9090467 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9090467C>T ENST00000397910.4 - 1 1551 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 450 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 GCAGTCATTTCGGACTCTTCT 0.488000 59 107 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14819310 14819310 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:14819310C>T ENST00000380881.4 - 15 3286 c.2471G>A c.(2470-2472)gGa>gAa p.G824E FREM1_ENST00000422223.2_Missense_Mutation_p.G823E|FREM1_ENST00000380880.3_Missense_Mutation_p.G823E Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 823 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) CTCCACCCTTCCGTGCAGAGG 0.453000 16 30 0 0 0.008871 0 0 OR4K13 390433 broad.mit.edu 37 14 20502084 20502084 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:20502084G>A ENST00000315693.2 - 1 835 c.834C>T c.(832-834)ttC>ttT p.F278F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGAGAGGTGTGAAAATTGTGT 0.333000 8 27 0 0 0.004482 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817423 23817423 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:23817423C>T ENST00000354772.3 - 6 1288 c.785G>A c.(784-786)cGa>cAa p.R262Q SLC22A17_ENST00000206544.8_Missense_Mutation_p.R262Q|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R262Q|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R151Q|SLC22A17_ENST00000474057.1_5'UTR NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 262 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity p.R262Q(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) GGGCCGGTTTCGCTCAGCCAG 0.622000 38 67 0 0 0.006230 0 0 NOC4L 79050 broad.mit.edu 37 12 132636693 132636693 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:132636693C>T ENST00000330579.1 + 14 1423 c.1382C>T c.(1381-1383)tCc>tTc p.S461F NOC4L_ENST00000538784.1_Missense_Mutation_p.S76F NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 461 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CAGGCCCTGTCCATGCCTGAG 0.682000 11 18 0 0 0.002450 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325007 150325007 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150325007C>T ENST00000328902.5 - 3 895 c.679G>A c.(679-681)Gaa>Aaa p.E227K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 227 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TAATCTCCTTCGTTTTCCCAC 0.512000 40 111 0 0 0.007835 0 0 CSMD2 114784 broad.mit.edu 37 1 34209001 34209001 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:34209001G>A ENST00000373381.4 - 14 2229 c.2053C>T c.(2053-2055)Ctg>Ttg p.L685L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 645 CUB 4. 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) AAGGTGCCCAGGACGGGCGCC 0.617000 26 48 0 0 0.006320 0 0 OR4D9 390199 broad.mit.edu 37 11 59283138 59283138 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:59283138C>T ENST00000329328.3 + 1 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CCCTGCATTTCGTGCCCTGCA 0.562000 76 132 0 0 0.003610 0 0 SPACA3 124912 broad.mit.edu 37 17 31322522 31322522 + Translation_Start_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:31322522G>A ENST00000580599.1 + 0 332 SPACA3_ENST00000269053.3_Missense_Mutation_p.G44S|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) GAGCCAGAGTGGTGGTGGCTC 0.617000 35 66 0 0 0.003271 0 0 SLIT1 6585 broad.mit.edu 37 10 98802661 98802661 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:98802661C>T ENST00000266058.4 - 20 2406 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E721K NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 721 LRRCT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GAGTTACCTTCCTCACACCTG 0.642000 21 20 0 0 0.008871 0 0 FAM73A 374986 broad.mit.edu 37 1 78309071 78309071 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:78309071T>C ENST00000370791.3 + 8 1007 c.975T>C c.(973-975)gaT>gaC p.D325D FAM73A_ENST00000443751.2_Silent_p.D287D NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 325 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) CATCCACGGATTCCTTTGCTT 0.403000 29 49 0 0 0.002836 0 0 G2E3 55632 broad.mit.edu 37 14 31085542 31085542 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:31085542C>T ENST00000206595.6 + 15 2077 c.1923C>T c.(1921-1923)tcC>tcT p.S641S G2E3_ENST00000553504.1_Silent_p.S671S|G2E3_ENST00000438909.2_Silent_p.S595S NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 641 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GTTGCAGTTCCATTCCTCCAG 0.348000 7 41 0 0 0.001984 0 0 SLC26A8 116369 broad.mit.edu 37 6 35928780 35928780 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:35928780G>A ENST00000490799.1 - 13 1911 c.1558C>T c.(1558-1560)Cgt>Tgt p.R520C SLC26A8_ENST00000394602.2_Missense_Mutation_p.R415C|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R520C NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 520 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CTGTGTGAACGAACAGTGGTG 0.413000 16 39 0 0 0.004007 0 0 H1FNT 341567 broad.mit.edu 37 12 48723794 48723794 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:48723794G>A ENST00000335017.1 + 1 1032 c.720G>A c.(718-720)agG>agA p.R240R NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 240 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 CCAAGCCCAGGGAAGAGAAGC 0.642000 7 7 0 0 0.006214 0 0 FNDC1 84624 broad.mit.edu 37 6 159670212 159670212 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:159670212T>C ENST00000297267.9 + 16 5032 c.4832T>C c.(4831-4833)gTt>gCt p.V1611A FNDC1_ENST00000340366.6_Missense_Mutation_p.V1548A NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1611 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AAACGATTTGTTGGTAAATAT 0.438000 7 14 0 0 0.003080 0 0 MROH7 374977 broad.mit.edu 37 1 55118967 55118967 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:55118967C>T ENST00000414150.2 + 3 646 c.368C>T c.(367-369)cCa>cTa p.P123L MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.P123L|MROH7_ENST00000339553.5_Missense_Mutation_p.P123L|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.P123L maestro heat-like repeat family member 7 CGCCTCTGTCCAGCCTCAAAC 0.572000 41 102 0 0 0.003610 0 0 OR4X2 119764 broad.mit.edu 37 11 48266970 48266970 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:48266970C>T ENST00000302329.3 + 1 363 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CTGAGATTTTCCTGCTCACTG 0.498000 30 61 0 0 0.001786 0 0 DCTN3 11258 broad.mit.edu 37 9 34616097 34616097 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:34616097G>A ENST00000378913.2 - 4 298 c.282C>T c.(280-282)atC>atT p.I94I DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000259632.7_Silent_p.I94I|DCTN3_ENST00000477738.2_Silent_p.I94I|DCTN3_ENST00000341694.2_Silent_p.I94I|DCTN3_ENST00000447983.2_3'UTR|DCTN3_ENST00000479399.1_5'UTR O75935 DCTN3_HUMAN dynactin 3 (p22) 94 cytokinesis|G2/M transition of mitotic cell cycle|mitosis centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle protein binding|structural molecule activity large_intestine(1)|skin(1) 2 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0388) CCTGGGAAAGGATAAACTGCT 0.498000 11 27 0 0 0.000978 0 0 ABCB1 5243 broad.mit.edu 37 7 87214866 87214866 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:87214866C>T ENST00000265724.3 - 5 665 c.248G>A c.(247-249)gGa>gAa p.G83E ABCB1_ENST00000543898.1_Missense_Mutation_p.G83E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 83 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCTAAATTTCCTGCATTTGC 0.393000 20 30 0 0 0.002299 0 0 ACP6 51205 broad.mit.edu 37 1 147124277 147124277 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:147124277A>C ENST00000369238.5 - 7 1303 c.856T>G c.(856-858)Ttg>Gtg p.L286V NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 286 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding p.L286L(1) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) AGTATGTACAAGGATGTGTCC 0.512000 29 55 0 0 0.007291 0 0 NRP1 8829 broad.mit.edu 37 10 33515181 33515181 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:33515181C>T ENST00000265371.4 - 8 1543 c.1018G>A c.(1018-1020)Ggg>Agg p.G340R NRP1_ENST00000374823.5_Missense_Mutation_p.G340R|NRP1_ENST00000374867.2_Missense_Mutation_p.G340R|NRP1_ENST00000374816.3_Missense_Mutation_p.G340R|NRP1_ENST00000374821.5_Missense_Mutation_p.G340R|NRP1_ENST00000374822.4_Missense_Mutation_p.G340R|NRP1_ENST00000395995.1_Missense_Mutation_p.G340R O14786 NRP1_HUMAN neuropilin 1 340 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CCCTGTGTCCCGACAGCCGTG 0.488000 16 23 0 0 0.004007 0 0 MON1A 84315 broad.mit.edu 37 3 49949036 49949036 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:49949036G>A ENST00000417270.1 - 4 1253 c.560C>T c.(559-561)tCc>tTc p.S187F MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.S276F Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 179 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CATAGTGCTGGAAAGTGCCTC 0.592000 23 42 0 0 0.002780 0 0 LILRA1 11024 broad.mit.edu 37 19 55105721 55105721 + Silent SNP C C T rs147201880 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:55105721C>T ENST00000453777.1 + 2 182 c.12C>T c.(10-12)atC>atT p.I4I LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.I4I NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 4 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGACCCCCATCGTCACAGTCC 0.582000 37 57 0 0 0.003610 0 0 BTBD11 121551 broad.mit.edu 37 12 107937824 107937824 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:107937824C>T ENST00000280758.5 + 3 1926 c.1398C>T c.(1396-1398)gcC>gcT p.A466A BTBD11_ENST00000490090.2_Silent_p.A466A|BTBD11_ENST00000420571.2_Silent_p.A466A NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 466 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGCCCGAGGCCCTGTACACCC 0.577000 8 32 0 0 0.004482 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001293 13001293 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:13001293C>T ENST00000376189.1 - 3 489 c.390G>A c.(388-390)agG>agA p.R130R PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Silent_p.R130R NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 130 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGTTTTGTTCCTCTTGGCAT 0.498000 115 748 0 0 0.003610 0 0 NOS1 4842 broad.mit.edu 37 12 117728169 117728169 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:117728169G>A ENST00000344089.3 - 5 1656 c.971C>T c.(970-972)tCc>tTc p.S324F NOS1_ENST00000338101.4_Silent_p.F305F|NOS1_ENST00000317775.6_Silent_p.F305F NM_001204213.1|NM_001204214.1 NP_001191142.1|NP_001191143.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 548 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.F305L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGACCTTGAGGAAGCGTGGAC 0.557000 17 37 0 0 0.006122 0 0 QKI 9444 broad.mit.edu 37 6 163987773 163987773 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:163987773C>T ENST00000361752.3 + 7 1506 c.955C>T c.(955-957)Cga>Tga p.R319* QKI_ENST00000275262.7_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000361195.2_Nonsense_Mutation_p.R311* NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 319 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TACTAAAGTTCGAAGGCACGA 0.418000 9 32 0 0 0.001368 0 0 KRT2 3849 broad.mit.edu 37 12 53045732 53045732 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:53045732G>A ENST00000309680.3 - 1 216 c.195C>T c.(193-195)ggC>ggT p.G65G NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 65 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TCCCTCCAAGGCCAACAAGAC 0.617000 16 33 0 0 0.004007 0 0 VN1R2 317701 broad.mit.edu 37 19 53762433 53762433 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:53762433C>T ENST00000341702.3 + 1 889 c.805C>T c.(805-807)Cat>Tat p.H269Y NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 269 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) GACATCCTTCCATGATGTTTT 0.453000 49 86 0 0 0.003610 0 0 SUSD1 64420 broad.mit.edu 37 9 114886619 114886619 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:114886619C>T ENST00000374270.3 - 6 976 c.804G>A c.(802-804)gaG>gaA p.E268E SUSD1_ENST00000374263.3_Silent_p.E268E|SUSD1_ENST00000374264.2_Silent_p.E268E|SUSD1_ENST00000482851.1_5'UTR NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 268 Sushi 2. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TCTCAAAGCCCTCTTGACAGA 0.517000 47 37 0 0 0.003610 0 0 CEP70 80321 broad.mit.edu 37 3 138251411 138251411 + Splice_Site SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:138251411A>G ENST00000264982.3 - 8 903 c.635_splice c.e8-1 p.L213_splice CEP70_ENST00000542237.1_Splice_Site_p.L193_splice|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000489254.1_Splice_Site_p.L61_splice|CEP70_ENST00000484888.1_Splice_Site_p.L213_splice|CEP70_ENST00000481834.1_Splice_Site_p.L213_splice NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 213 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 AGACAAAGCAACCTAGAAAAC 0.279000 86 102 0 0 0.003610 0 0 SYNE1 23345 broad.mit.edu 37 6 152639236 152639236 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:152639236G>A ENST00000367255.5 - 86 17153 c.16552C>T c.(16552-16554)Cgg>Tgg p.R5518W SYNE1_ENST00000448038.1_Missense_Mutation_p.R5447W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R42W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5447W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5518W|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5518 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGGAGAGCCGATTCTCAGCT 0.433000 HNSCC(10;0.0054) 50 113 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9057584 9057584 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9057584C>T ENST00000397910.4 - 3 30065 c.29862G>A c.(29860-29862)atG>atA p.M9954I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9956 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 TGGTGATGGTCATTTGTGTTG 0.498000 97 231 0 0 0.003610 0 0 EPHA8 2046 broad.mit.edu 37 1 22927217 22927217 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:22927217G>A ENST00000166244.3 + 14 2524 c.2452G>A c.(2452-2454)Gcc>Acc p.A818T NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 818 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTTCTCCTCGGCCAGCGACGT 0.662000 21 81 0 0 0.001523 0 0 IFI44L 10964 broad.mit.edu 37 1 79102833 79102833 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:79102833C>T ENST00000370751.4 + 6 1172 c.993C>T c.(991-993)ctC>ctT p.L331L IFI44L_ENST00000342282.3_Silent_p.L73L|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 331 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 TTGACAATCTCTACTCTAAAA 0.343000 21 53 0 0 0.001523 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33802161 33802161 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:33802161G>A ENST00000260908.7 - 4 1665 c.1548C>T c.(1546-1548)atC>atT p.I516I SLFN12L_ENST00000449046.1_Silent_p.I547I|SLFN12L_ENST00000361112.4_Silent_p.I545I NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 548 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TCAAGTAGAAGATCTTTGTCA 0.383000 14 29 0 0 0.001855 0 0 NT5E 4907 broad.mit.edu 37 6 86181160 86181160 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:86181160G>A ENST00000369646.3 + 3 817 c.768G>A c.(766-768)agG>agA p.R256R NT5E_ENST00000369651.3_Intron|NT5E_ENST00000257770.3_Intron P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 0 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) GTTTCAAAAGGATTGCATGGG 0.388000 24 46 0 0 0.002780 0 0 THSD7B 80731 broad.mit.edu 37 2 138413199 138413199 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:138413199C>T ENST00000409968.1 + 22 4252 c.4074C>T c.(4072-4074)atC>atT p.I1358I THSD7B_ENST00000413152.2_Silent_p.I1330I|THSD7B_ENST00000272643.3_Silent_p.I1361I|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGACAGCATCCTGAAGCAGC 0.498000 20 8 0 0 0.002780 0 0 MAST1 22983 broad.mit.edu 37 19 12975917 12975917 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:12975917G>C ENST00000251472.4 + 14 1602 c.1563G>C c.(1561-1563)atG>atC p.M521I NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 521 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCTCCAAGATGGGGCTCATGA 0.572000 22 80 0 0 0.003330 0 0 ZNF813 126017 broad.mit.edu 37 19 53994186 53994186 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:53994186C>T ENST00000396403.4 + 4 828 c.700C>T c.(700-702)Caa>Taa p.Q234* ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAGGAAACATCAAATAATCCA 0.383000 24 52 0 0 0.002299 0 0 LIN7A 8825 broad.mit.edu 37 12 81205335 81205335 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:81205335C>T ENST00000552864.1 - 5 813 c.611G>A c.(610-612)cGa>cAa p.R204Q NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 204 exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CCTGGCTGTTCGTAGCTTTTC 0.502000 13 16 0 0 0.001368 0 0 CCDC68 80323 broad.mit.edu 37 18 52596091 52596091 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:52596091C>T ENST00000591504.1 - 8 897 c.623G>A c.(622-624)aGa>aAa p.R208K CCDC68_ENST00000337363.4_Missense_Mutation_p.R208K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R208K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 208 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AGACAGTTTTCTTTCTAGTAG 0.363000 6 24 0 0 0.001984 0 0 SLC22A25 387601 broad.mit.edu 37 11 62933731 62933731 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:62933731C>T ENST00000306494.6 - 7 1070 c.e7-1 SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ACTTGCAAATCTGCAGGGAAC 0.433000 14 29 0 0 0.004990 0 0 FLG 2312 broad.mit.edu 37 1 152282971 152282971 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152282971C>T ENST00000368799.1 - 3 4426 c.4391G>A c.(4390-4392)gGa>gAa p.G1464E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1464 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGTCTTCCTCCAGTGCT 0.567000 Ichthyosis 82 300 0 0 0.003610 0 0 NTRK2 4915 broad.mit.edu 37 9 87482207 87482207 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:87482207T>C ENST00000304053.6 + 14 1977 c.1494T>C c.(1492-1494)caT>caC p.H498H NTRK2_ENST00000376213.1_Silent_p.H482H|NTRK2_ENST00000376208.1_Silent_p.H482H|NTRK2_ENST00000277120.3_Silent_p.H498H|NTRK2_ENST00000376214.1_Silent_p.H498H|NTRK2_ENST00000323115.4_Silent_p.H482H NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 482 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GCCCACTCCATCACATCTCCA 0.453000 TSP Lung(25;0.17) 23 27 0 0 0.006320 0 0 HECTD1 25831 broad.mit.edu 37 14 31637529 31637529 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:31637529G>A ENST00000399332.1 - 10 2085 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* HECTD1_ENST00000553700.1_Nonsense_Mutation_p.Q533* NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 533 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATAGTTTGCTGAAATGTTTGT 0.348000 63 147 0 0 0.003610 0 0 TPD52 7163 broad.mit.edu 37 8 80992579 80992579 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:80992579G>A ENST00000520527.1 - 1 472 c.110C>T c.(109-111)cCa>cTa p.P37L TPD52_ENST00000379097.3_Missense_Mutation_p.P37L|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.P37L|TPD52_ENST00000517427.1_Missense_Mutation_p.P37L|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.P37L|TPD52_ENST00000519303.2_Intron P55327 TPD52_HUMAN tumor protein D52 37 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TGATCCGGGTGGAGATGAATT 0.403000 25 28 0 0 0.006320 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749330 8749330 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:8749330G>A ENST00000276282.6 - 1 1825 c.1239C>T c.(1237-1239)ctC>ctT p.L413L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 413 Roc. endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GCCCCATCAGGAGCAGCTTGA 0.622000 23 45 0 0 0.003330 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128850516 128850516 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:128850516G>A ENST00000310343.9 - 17 1865 c.1866C>T c.(1864-1866)atC>atT p.I622I ARHGAP32_ENST00000392657.3_Silent_p.I273I|ARHGAP32_ENST00000524655.1_Silent_p.I548I|ARHGAP32_ENST00000527272.1_Silent_p.I273I NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 622 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTCCTACTTCGATATATTTAT 0.418000 41 29 0 0 0.002222 0 0 SPG11 80208 broad.mit.edu 37 15 44898230 44898230 + Silent SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:44898230A>T ENST00000261866.7 - 20 3529 c.3513T>A c.(3511-3513)gcT>gcA p.A1171A SPG11_ENST00000558319.1_Silent_p.A1171A|SPG11_ENST00000427534.2_Silent_p.A1171A|SPG11_ENST00000535302.2_Silent_p.A1171A NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1171 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TACCTCCTATAGCTAGTGTGT 0.373000 13 31 0 0 0.004990 0 0 SP140 11262 broad.mit.edu 37 2 231103041 231103041 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:231103041G>A ENST00000392045.3 + 3 465 c.351G>A c.(349-351)agG>agA p.R117R SP140_ENST00000417495.3_Silent_p.R117R|SP140_ENST00000420434.3_Silent_p.R117R|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Silent_p.R117R|SP140_ENST00000373645.3_Silent_p.R117R|SP140_ENST00000350136.5_Silent_p.R97R|SP140_ENST00000343805.6_Silent_p.R117R NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 117 HSR. 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) TGTTCAGCAGGATTAACCTGA 0.433000 39 19 0 0 0.006999 0 0 MUC17 140453 broad.mit.edu 37 7 100679927 100679927 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:100679927C>T ENST00000306151.4 + 3 5294 c.5230C>T c.(5230-5232)Cct>Tct p.P1744S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1744 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AAACTCAACTCCTAGTGAAGG 0.493000 100 245 0 0 0.003610 0 0 ZNF648 127665 broad.mit.edu 37 1 182026903 182026903 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:182026903G>A ENST00000339948.3 - 2 450 c.243C>T c.(241-243)ttC>ttT p.F81F NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 AGGAGTCAGAGAATTTCTCTT 0.567000 22 93 0 0 0.001523 0 0 MYCBP2 23077 broad.mit.edu 37 13 77655574 77655574 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:77655574G>A ENST00000407578.2 - 65 11672 c.11406C>T c.(11404-11406)tcC>tcT p.S3802S MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Silent_p.S3764S|MYCBP2_ENST00000544440.2_Silent_p.S3764S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3764 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CAAGATCTCGGGAATTGTCCA 0.393000 46 45 0 0 0.003610 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757235 56757235 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:56757235C>T ENST00000326855.2 + 1 889 c.847C>T c.(847-849)Ccc>Tcc p.P283S NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CACAGTTATTCCCATGTTAAA 0.318000 18 33 0 0 0.008871 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473085 22473085 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:22473085C>T ENST00000557788.2 - 0 185 CCAGCCCCTTCCCTGGGGGCT 0.572000 25 162 0 0 0.002780 0 0 HPCAL4 51440 broad.mit.edu 37 1 40149819 40149819 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:40149819G>A ENST00000372844.3 - 3 559 c.168C>T c.(166-168)ttC>ttT p.F56F NM_016257.2 NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 56 EF-hand 1. central nervous system development intracellular calcium ion binding breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CGCCGTAGGGGAAGAACTGAG 0.692000 7 15 0 0 0.001984 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815664 106815664 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:106815664G>A ENST00000407775.2 + 8 3604 c.3354G>A c.(3352-3354)ggG>ggA p.G1118G RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.G986G|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.G849G|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.G986G|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1118 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAACCAGTGGGAAATATTGCC 0.428000 5 15 0 0 0.000602 0 0 CA11 770 broad.mit.edu 37 19 49142225 49142225 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:49142225A>C ENST00000084798.4 - 8 1560 c.881T>G c.(880-882)tTg>tGg p.L294W SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 294 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) CCTGTGGGCCAAGGGCTGCAG 0.652000 10 21 0 0 0.006214 0 0 PLXNA3 55558 broad.mit.edu 37 X 153695625 153695625 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:153695625C>T ENST00000369682.3 + 19 3427 c.3252C>T c.(3250-3252)atC>atT p.I1084I NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1084 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCCCGGCATCTTTCTTGGGC 0.632000 42 19 0 0 0.003214 0 0 ISL2 64843 broad.mit.edu 37 15 76630250 76630250 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:76630250G>A ENST00000290759.4 + 2 350 c.190G>A c.(190-192)Gag>Aag p.E64K NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 64 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 GTACCTGGACGAGACGTGCAC 0.667000 14 35 0 0 0.004990 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36226076 36226076 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:36226076G>A ENST00000258840.6 - 7 976 c.586C>T c.(586-588)Cca>Tca p.P196S RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P196S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P196S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P196S|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 196 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCTGATTGTGGGGGGACAAGA 0.313000 24 64 0 0 0.002445 0 0 ALPK2 115701 broad.mit.edu 37 18 56205126 56205126 + Missense_Mutation SNP G G A rs115584025 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:56205126G>A ENST00000361673.3 - 5 2506 c.2293C>T c.(2293-2295)Cgt>Tgt p.R765C RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 765 ATP binding|protein serine/threonine kinase activity p.R765S(1)|p.R131S(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AAGTCAGCACGAGCATCCTTG 0.517000 41 94 0 0 0.006230 0 0 DENND3 22898 broad.mit.edu 37 8 142202548 142202548 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:142202548G>A ENST00000519811.1 + 21 3568 c.3498_splice c.e21+1 p.E1166_splice DENND3_ENST00000424248.1_Splice_Site_p.E1034_splice|DENND3_ENST00000523308.1_Splice_Site_p.E136_splice|DENND3_ENST00000262585.2_Splice_Site_p.E1086_splice A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1086 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCTTCCTGAGGTATCCCAGC 0.582000 14 38 0 0 0.003163 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460333 107460333 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:107460333T>C ENST00000409382.3 - 2 711 c.101A>G c.(100-102)aAc>aGc p.N34S ST6GAL2_ENST00000361686.4_Missense_Mutation_p.N34S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.N34S NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 34 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTCAGCGGGGTTGCTGTCGGT 0.562000 32 17 0 0 0.002096 0 0 MUC16 94025 broad.mit.edu 37 19 9089865 9089865 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9089865G>A ENST00000397910.4 - 1 2153 c.1950C>T c.(1948-1950)tcC>tcT p.S650S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 650 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 CTGGAGACACGGAGACTGGGA 0.552000 40 102 0 0 0.003610 0 0 VWA2 340706 broad.mit.edu 37 10 116049073 116049073 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:116049073C>T ENST00000603594.1 + 12 2268 c.1947C>T c.(1945-1947)gcC>gcT p.A649A VWA2_ENST00000392982.3_Silent_p.A649A NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 649 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AGGATGCAGCCGTTCCTGCCC 0.627000 10 10 0 0 0.008291 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871471 20871471 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:20871471G>A ENST00000324344.3 - 3 937 c.652C>T c.(652-654)Cct>Tct p.P218S DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P218S|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 218 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) AATACCGGAGGATTGTTCTGG 0.498000 60 111 0 0 0.003610 0 0 ST5 6764 broad.mit.edu 37 11 8752657 8752657 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:8752657G>A ENST00000534127.1 - 6 565 c.180C>T c.(178-180)caC>caT p.H60H ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Silent_p.H60H|ST5_ENST00000313726.6_Silent_p.H60H|ST5_ENST00000530438.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 60 Pro-rich. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGGAGCTGGAGTGGCTGGGGT 0.612000 22 36 0 0 0.001523 0 0 TRERF1 55809 broad.mit.edu 37 6 42224802 42224802 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:42224802G>A ENST00000541110.1 - 11 3003 c.2435C>T c.(2434-2436)cCt>cTt p.P812L TRERF1_ENST00000372917.4_Missense_Mutation_p.P709L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P709L|TRERF1_ENST00000340840.2_Missense_Mutation_p.P709L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P792L Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 792 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTGGAGTTCAGGGATTTCTGC 0.478000 70 70 0 0 0.003610 0 0 OVCH2 341277 broad.mit.edu 37 11 7721858 7721858 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:7721858C>T ENST00000454689.1 - 0 885 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TGGATGTGTTCGTGGATCCAG 0.493000 10 20 0 0 0.008291 0 0 EIF3A 8661 broad.mit.edu 37 10 120816534 120816534 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:120816534G>A ENST00000369144.3 - 13 2123 c.1996C>T c.(1996-1998)Cca>Tca p.P666S EIF3A_ENST00000541549.1_Missense_Mutation_p.P632S|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 666 Glu-rich.|Interaction with EIF3B. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ATAAAATCTGGATCCAATTCC 0.343000 17 9 0 0 0.004990 0 0 ACAA1 30 broad.mit.edu 37 3 38167134 38167134 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38167134G>A ENST00000333167.8 - 11 1293 c.1121C>T c.(1120-1122)gCc>gTc p.A374V ACAA1_ENST00000450296.1_Missense_Mutation_p.A333V|ACAA1_ENST00000301810.7_Missense_Mutation_p.A281V|ACAA1_ENST00000480865.1_5'UTR NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 374 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) GTGCCCTAAGGCCACTGCACC 0.617000 16 36 0 0 0.004007 0 0 USH2A 7399 broad.mit.edu 37 1 216465577 216465577 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:216465577G>A ENST00000366943.2 - 10 2166 c.1780C>T c.(1780-1782)Cct>Tct p.P594S USH2A_ENST00000307340.3_Missense_Mutation_p.P594S|USH2A_ENST00000366942.3_Missense_Mutation_p.P594S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 594 Laminin EGF-like 2. 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) TGCTCAAAAGGAAATGGGTCT 0.433000 HNSCC(13;0.011) 25 129 0 0 0.005443 0 0 FRAS1 80144 broad.mit.edu 37 4 79399128 79399128 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:79399128G>A ENST00000264895.6 + 55 8451 c.8011G>A c.(8011-8013)Gag>Aag p.E2671K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2666 Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CAACGATACCGAGGATGAACC 0.458000 7 19 0 0 0.001984 0 0 SLC6A9 6536 broad.mit.edu 37 1 44475699 44475699 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:44475699G>A ENST00000372310.3 - 4 422 c.257C>T c.(256-258)tCc>tTc p.S86F SLC6A9_ENST00000372307.3_Missense_Mutation_p.S21F|SLC6A9_ENST00000372306.3_Missense_Mutation_p.S86F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S105F|SLC6A9_ENST00000537678.1_Missense_Mutation_p.S21F|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000360584.2_Missense_Mutation_p.S159F|SLC6A9_ENST00000475075.2_Intron NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 159 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTGGCCGAAGGAGAGCTCCAT 0.597000 36 73 0 0 0.002836 0 0 RGS6 9628 broad.mit.edu 37 14 72936762 72936762 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:72936762C>T ENST00000553530.1 + 8 714 c.507C>T c.(505-507)ttC>ttT p.F169F RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000554782.1_Silent_p.F30F|RGS6_ENST00000556437.1_Silent_p.F169F|RGS6_ENST00000434263.2_Silent_p.F100F|RGS6_ENST00000404301.2_Silent_p.F169F|RGS6_ENST00000555571.1_Silent_p.F169F|RGS6_ENST00000343854.6_Silent_p.F169F|RGS6_ENST00000406236.4_Silent_p.F169F|RGS6_ENST00000355512.6_Silent_p.F169F|RGS6_ENST00000553525.1_Silent_p.F169F|RGS6_ENST00000402788.2_Silent_p.F169F|RGS6_ENST00000407322.4_Silent_p.F169F NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 169 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) AGTGGGAATTCATCTTTATGC 0.413000 16 25 0 0 0.006122 0 0 CNGA1 1259 broad.mit.edu 37 4 47953412 47953412 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:47953412G>A ENST00000402813.3 - 4 543 c.401C>T c.(400-402)tCc>tTc p.S134F CNGA1_ENST00000544810.1_Missense_Mutation_p.S65F|CNGA1_ENST00000420489.2_Missense_Mutation_p.S65F|CNGA1_ENST00000514170.1_Missense_Mutation_p.S65F|CNGA1_ENST00000358519.4_Missense_Mutation_p.S65F P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 65 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 ATAACTAAAGGAACCCCTTGC 0.443000 5 46 0 0 0.001168 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283465 33283465 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:33283465G>C ENST00000431845.2 - 2 1380 c.1229C>G c.(1228-1230)tCc>tGc p.S410C ZBTB22_ENST00000418724.1_Missense_Mutation_p.S410C NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGGAGGGTGGGAGGGGGCATA 0.597000 49 156 0 0 0.003610 0 0 UNC13A 23025 broad.mit.edu 37 19 17728550 17728550 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:17728550G>A ENST00000428389.2 - 42 4782 c.4783C>T c.(4783-4785)Ctg>Ttg p.L1595L UNC13A_ENST00000550896.1_Silent_p.L1480L|UNC13A_ENST00000519716.2_Silent_p.L1507L|UNC13A_ENST00000252773.7_Silent_p.L1507L|UNC13A_ENST00000551649.1_Silent_p.L1507L|UNC13A_ENST00000552293.1_Silent_p.L1482L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1507 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTGATTAGCAGGTCGGTGGCC 0.637000 34 107 0 0 0.004289 0 0 KLHL8 57563 broad.mit.edu 37 4 88116516 88116516 + Missense_Mutation SNP C C T rs144616595 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:88116516C>T ENST00000273963.5 - 2 517 c.176G>A c.(175-177)cGa>cAa p.R59Q KLHL8_ENST00000498875.2_Missense_Mutation_p.R59Q|KLHL8_ENST00000425278.2_Missense_Mutation_p.R59Q|KLHL8_ENST00000512111.1_Missense_Mutation_p.R59Q|KLHL8_ENST00000545252.1_5'UTR NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 59 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TTCATAAAATCGAAGAAGAGA 0.368000 15 44 0 0 0.004007 0 0 OR2M3 127062 broad.mit.edu 37 1 248366969 248366969 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:248366969C>T ENST00000456743.1 + 1 638 c.600C>T c.(598-600)ttC>ttT p.F200F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGATTCTTTTCATCTGCTGTA 0.443000 70 300 0 0 0.003610 0 0 CYP4A22 284541 broad.mit.edu 37 1 47607252 47607252 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:47607252C>T ENST00000371891.3 + 3 378 c.347C>T c.(346-348)tCc>tTc p.S116F CYP4A22_ENST00000371890.3_Missense_Mutation_p.S116F|CYP4A22_ENST00000294337.3_Missense_Mutation_p.S116F|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 116 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GACCCGAAATCCCATGGATCC 0.458000 17 55 0 0 0.006122 0 0 FAM174B 400451 broad.mit.edu 37 15 93277250 93277250 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:93277250G>A ENST00000556424.1 - 0 78 GAGGTACCCCGGAATCGCAGC 0.587000 16 21 0 0 0.007413 0 0 CSF2RA 1438 broad.mit.edu 37 X 1424365 1424365 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:1424365C>T ENST00000381524.3 + 12 1256 c.1070C>T c.(1069-1071)cCg>cTg p.P357L CSF2RA_ENST00000501036.2_Missense_Mutation_p.P224L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.P357L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R325C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.P357L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.P357L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R325C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.P391L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R225C P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 357 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CGGCTGTTCCCGCCAGTTCCA 0.547000 41 66 0 0 0.003610 0 0 EYA4 2070 broad.mit.edu 37 6 133802735 133802735 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:133802735G>A ENST00000367895.5 + 12 1569 c.1105G>A c.(1105-1107)Gag>Aag p.E369K EYA4_ENST00000525849.1_Missense_Mutation_p.E346K|EYA4_ENST00000355286.6_Missense_Mutation_p.E346K|EYA4_ENST00000452339.2_Missense_Mutation_p.E315K|EYA4_ENST00000430974.2_Missense_Mutation_p.E321K|EYA4_ENST00000355167.3_Missense_Mutation_p.E369K|EYA4_ENST00000531901.1_Missense_Mutation_p.E375K|EYA4_ENST00000431403.2_Missense_Mutation_p.E369K NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 369 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TAGTGACCTGGAGGTATGCCT 0.398000 28 46 0 0 0.007291 0 0 ANKRD55 79722 broad.mit.edu 37 5 55528733 55528733 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:55528733C>T ENST00000341048.4 - 2 159 c.8G>A c.(7-9)aGa>aAa p.R3K ANKRD55_ENST00000504958.2_Missense_Mutation_p.R3K|ANKRD55_ENST00000513241.2_Intron NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 2 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GGTAGCCTGTCTCATCATTTA 0.428000 4 40 0 0 0.000248 0 0 TIMD4 91937 broad.mit.edu 37 5 156378700 156378700 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:156378700G>A ENST00000274532.2 - 3 558 c.502C>T c.(502-504)Cca>Tca p.P168S TIMD4_ENST00000407087.3_Missense_Mutation_p.P168S NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 168 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTGTTGTTGGAAGTGCAGCT 0.527000 17 565 0 0 0.007413 0 0 OR2J3 442186 broad.mit.edu 37 6 29079884 29079884 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:29079884G>A ENST00000377169.1 + 1 217 c.217G>A c.(217-219)Gat>Aat p.D73N NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CTCATTTCTGGATCTCTGCTA 0.463000 69 172 0 0 0.003610 0 0 COL14A1 7373 broad.mit.edu 37 8 121259887 121259887 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:121259887G>A ENST00000297848.3 + 21 2785 c.2515G>A c.(2515-2517)Gag>Aag p.E839K COL14A1_ENST00000247781.3_Missense_Mutation_p.E744K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E839K NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 839 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCGGGTGTCCGAGGAATGGTA 0.473000 19 50 0 0 0.008871 0 0 VPS13D 55187 broad.mit.edu 37 1 12337809 12337809 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:12337809C>T ENST00000358136.3 + 19 4294 c.4164C>T c.(4162-4164)atC>atT p.I1388I VPS13D_ENST00000356315.4_Silent_p.I1388I NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1388 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGTTTCTATCCCTCGGAAGC 0.438000 14 44 0 0 0.001855 0 0 GNA15 2769 broad.mit.edu 37 19 3151735 3151735 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:3151735G>A ENST00000262958.3 + 4 774 c.516G>A c.(514-516)gaG>gaA p.E172E AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 172 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GCATCACCGAGGAGGGCTACG 0.627000 34 97 0 0 0.005524 0 0 TRPV5 56302 broad.mit.edu 37 7 142625961 142625961 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:142625961C>T ENST00000265310.1 - 6 935 c.586_splice c.e6-1 p.G196_splice TRPV5_ENST00000442623.1_Splice_Site_p.G196_splice NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 196 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TACTGTGTTTCCTGGGGAGGA 0.552000 32 72 0 0 0.002836 0 0 OPN4 94233 broad.mit.edu 37 10 88419807 88419807 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:88419807C>T ENST00000372071.2 + 7 1216 c.989C>T c.(988-990)gCc>gTc p.A330V OPN4_ENST00000241891.5_Missense_Mutation_p.A319V NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 319 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 GCCCTGGTGGCCTTTGCTGGG 0.622000 26 28 0 0 0.002836 0 0 HEATR1 55127 broad.mit.edu 37 1 236735812 236735812 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:236735812A>G ENST00000366582.3 - 26 3720 c.3606T>C c.(3604-3606)tcT>tcC p.S1202S HEATR1_ENST00000366581.2_Silent_p.S1121S NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1202 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTTGCCAGTAAGAACCTCCAA 0.383000 31 63 0 0 0.002445 0 0 ZNF750 79755 broad.mit.edu 37 17 80788365 80788365 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:80788365C>T ENST00000269394.3 - 3 2658 c.1825G>A c.(1825-1827)Gcc>Acc p.A609T TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A210T|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 609 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GTGGGTGGGGCCCCGTCACCG 0.677000 25 28 0 0 0.005443 0 0 ZNF536 9745 broad.mit.edu 37 19 30936591 30936591 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:30936591G>A ENST00000355537.3 + 2 2269 c.2122G>A c.(2122-2124)Ggg>Agg p.G708R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 708 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.G708W(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTCCCAGACCGGGAGTGCCCA 0.677000 11 30 0 0 0.001368 0 0 POF1B 79983 broad.mit.edu 37 X 84562249 84562249 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:84562249C>T ENST00000262753.4 - 11 1229 c.1084G>A c.(1084-1086)Gat>Aat p.D362N POF1B_ENST00000373145.3_Missense_Mutation_p.D362N NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 362 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 AATGATAAATCTTTCTCAAGT 0.328000 12 8 0 0 0.000978 0 0 TMC5 79838 broad.mit.edu 37 16 19451378 19451378 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:19451378G>A ENST00000396229.2 + 3 767 c.18G>A c.(16-18)agG>agA p.R6R TMC5_ENST00000541464.1_Silent_p.R6R|TMC5_ENST00000542583.2_Silent_p.R6R|TMC5_ENST00000381414.4_Silent_p.R6R NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 6 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCTACTACAGGAATAACTGGT 0.448000 21 64 0 0 0.002780 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922587 43922587 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:43922587G>A ENST00000329196.5 + 1 332 c.315G>A c.(313-315)acG>acA p.T105T MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 105 integral to membrane aspartic-type endopeptidase activity GCTTCCACACGAAAGGCTGGC 0.667000 25 37 0 0 0.005443 0 0 PDZD8 118987 broad.mit.edu 37 10 119044225 119044225 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:119044225C>T ENST00000334464.5 - 5 2258 c.2019G>A c.(2017-2019)tcG>tcA p.S673S PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 673 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GACGGTCGTCCGAACTGTCCT 0.428000 28 31 0 0 0.008361 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370128 35370128 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:35370128G>A ENST00000373347.1 - 3 1125 c.857C>T c.(856-858)cCc>cTc p.P286L DLGAP3_ENST00000235180.4_Missense_Mutation_p.P286L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 286 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CAGGCAGAAGGGACCACCAGG 0.662000 43 53 0 0 0.002852 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24255246 24255246 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:24255246G>A ENST00000538205.1 + 8 988 c.441G>A c.(439-441)ctG>ctA p.L147L ADAMDEC1_ENST00000256412.4_Silent_p.L226L|ADAMDEC1_ENST00000522298.1_Silent_p.L147L|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 226 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) ATTTGGTGCTGGATAATGCCT 0.353000 13 27 0 0 0.003163 0 0 OR2B2 81697 broad.mit.edu 37 6 27879209 27879209 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:27879209C>T ENST00000303324.2 - 1 965 c.889G>A c.(889-891)Gta>Ata p.V297I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 GCTTCCTTTACCTCTTTGTTC 0.388000 17 104 0 0 0.004990 0 0 ASB2 51676 broad.mit.edu 37 14 94413746 94413746 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:94413746T>C ENST00000555019.1 - 7 1431 c.1001A>G c.(1000-1002)aAc>aGc p.N334S ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.N286S NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 286 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCGTCCTTGTTGGTCTTGTT 0.632000 21 28 0 0 0.002780 0 0 OR4N2 390429 broad.mit.edu 37 14 20295729 20295729 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:20295729G>A ENST00000315947.1 + 1 122 c.122G>A c.(121-123)gGa>gAa p.G41E OR4N2_ENST00000568211.1_Missense_Mutation_p.G41E NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTCCCTGGAAATTTTCTC 0.448000 70 264 0 0 0.003610 0 0 LMX1B 4010 broad.mit.edu 37 9 129453146 129453146 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:129453146G>A ENST00000355497.5 + 3 365 c.358G>A c.(358-360)Gag>Aag p.E120K LMX1B_ENST00000425646.2_Missense_Mutation_p.E97K|LMX1B_ENST00000526117.1_Missense_Mutation_p.E120K|LMX1B_ENST00000561065.1_Missense_Mutation_p.E97K|LMX1B_ENST00000373474.4_Missense_Mutation_p.E120K NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 97 LIM zinc-binding 2. C -> S (in NPS). dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 CGGCTGCATGGAGAAGATCGC 0.657000 Nail-Patella Syndrome 4 6 0 0 0.000602 0 0 NTNG1 22854 broad.mit.edu 37 1 107867320 107867320 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:107867320C>T ENST00000370067.1 + 3 1290 c.663C>T c.(661-663)atC>atT p.I221I NTNG1_ENST00000370071.2_Silent_p.I221I|NTNG1_ENST00000370072.3_Silent_p.I221I|NTNG1_ENST00000370068.1_Silent_p.I221I|NTNG1_ENST00000370070.2_Silent_p.I221I|NTNG1_ENST00000370073.2_Silent_p.I221I|NTNG1_ENST00000370074.4_Silent_p.I221I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Silent_p.I221I|NTNG1_ENST00000370061.3_Silent_p.I221I|NTNG1_ENST00000370065.1_Silent_p.I221I|NTNG1_ENST00000370066.1_Silent_p.I221I Q9Y2I2 NTNG1_HUMAN netrin G1 221 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GCAAAATAATCCACTTTGAAA 0.423000 17 53 0 0 0.004990 0 0 RNF111 54778 broad.mit.edu 37 15 59323125 59323125 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:59323125G>A ENST00000348370.4 + 2 537 c.104G>A c.(103-105)gGg>gAg p.G35E RNF111_ENST00000561186.1_Missense_Mutation_p.G35E|RNF111_ENST00000434298.1_Missense_Mutation_p.G35E|RNF111_ENST00000559209.1_Missense_Mutation_p.G35E|RNF111_ENST00000557998.1_Missense_Mutation_p.G35E NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 35 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) AGTCTGAAAGGGATCCTTTTG 0.438000 16 38 0 0 0.003163 0 0 KIAA0319 9856 broad.mit.edu 37 6 24551732 24551732 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:24551732C>T ENST00000535378.1 - 21 3585 c.2943G>A c.(2941-2943)agG>agA p.R981R KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Silent_p.R945R|KIAA0319_ENST00000543707.1_Silent_p.R990R|KIAA0319_ENST00000378214.3_Silent_p.R990R NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 990 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 TTGTTTTTTTCCTGATTTTAG 0.398000 20 55 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237777871 237777871 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:237777871G>A ENST00000366574.2 + 37 5760 c.5443G>A c.(5443-5445)Gaa>Aaa p.E1815K RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1815 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) AGGGACTACTGAATTCCTCTT 0.483000 158 243 0 0 0.003610 0 0 TSPAN18 90139 broad.mit.edu 37 11 44939538 44939538 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:44939538C>T ENST00000340160.3 + 5 513 c.274C>T c.(274-276)Ctg>Ttg p.L92L TSPAN18_ENST00000520358.2_Silent_p.L92L NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 92 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 CCTGTTCATCCTGATCATCTT 0.572000 15 71 0 0 0.004990 0 0 L1TD1 54596 broad.mit.edu 37 1 62672782 62672782 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:62672782C>T ENST00000498273.1 + 3 777 c.482C>T c.(481-483)cCc>cTc p.P161L NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 161 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 aagaaattaccccagggtgaa 0.333000 5 14 0 0 0.000602 0 0 CFHR5 81494 broad.mit.edu 37 1 196952101 196952101 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:196952101G>A ENST00000367414.5 + 2 273 c.217G>A c.(217-219)Gaa>Aaa p.E73K CFHR5_ENST00000256785.4_Missense_Mutation_p.E49K NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 49 Sushi 1. complement activation, alternative pathway extracellular region p.E49K(1) NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TCCTACAGGGGAAGTTTTCTA 0.373000 48 80 0 0 0.003610 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061552 13061552 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:13061552C>T ENST00000014914.5 + 2 1259 c.369C>T c.(367-369)gtC>gtT p.V123V GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 123 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CCAAGCTCGTCCGGGGGAGGA 0.557000 68 146 0 0 0.003610 0 0 FTCD 10841 broad.mit.edu 37 21 47566215 47566215 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:47566215G>A ENST00000397748.1 - 8 976 c.933C>T c.(931-933)tcC>tcT p.S311S FTCD_ENST00000355384.2_Silent_p.S311S|FTCD_ENST00000359679.2_Silent_p.S311S|FTCD_ENST00000397743.1_Silent_p.S311S|FTCD_ENST00000397746.3_Silent_p.S311S|FTCD_ENST00000291670.5_Silent_p.S311S|FTCD_ENST00000498355.2_5'UTR O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 311 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AGGGGCACAGGGAGTCCAGGC 0.687000 6 10 0 0 0.001984 0 0 FMN2 56776 broad.mit.edu 37 1 240601433 240601433 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:240601433C>T ENST00000319653.9 + 16 5213 c.4983C>T c.(4981-4983)ttC>ttT p.F1661F FMN2_ENST00000545751.1_Silent_p.F257F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1661 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAAATGCTTTCTTCAGTATCT 0.388000 36 142 0 0 0.002836 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472504 47472504 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:47472504C>T ENST00000266581.4 - 2 748 c.282G>A c.(280-282)aaG>aaA p.K94K AMIGO2_ENST00000429635.1_Silent_p.K94K|AMIGO2_ENST00000550413.1_Silent_p.K94K|AMIGO2_ENST00000321382.3_Silent_p.K94K NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 94 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) GGGTGTTCAGCTTTGCAAACG 0.428000 27 60 0 0 0.005443 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32632738 32632738 + Silent SNP G G A rs41556424 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:32632738G>A ENST00000399084.1 - 3 394 c.216C>T c.(214-216)ttC>ttT p.F72F HLA-DQB1_ENST00000374943.4_Silent_p.F72F|HLA-DQB1_ENST00000434651.2_Silent_p.F72F|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Silent_p.F72F P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 72 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGTCGCTGTCGAAGCGCGCGT 0.627000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 44 68 0 0 0.002852 0 0 COL19A1 1310 broad.mit.edu 37 6 70778345 70778345 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:70778345C>T ENST00000322773.4 + 15 1303 c.1201C>T c.(1201-1203)Cca>Tca p.P401S COL19A1_ENST00000393344.1_Missense_Mutation_p.P23S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 401 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.P401T(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CCCCCAAGGTCCACCTGGAAA 0.438000 19 41 0 0 0.002780 0 0 PLCE1 51196 broad.mit.edu 37 10 95791085 95791085 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:95791085C>T ENST00000260766.3 + 2 916 c.282C>T c.(280-282)atC>atT p.I94I PLCE1_ENST00000371380.2_Silent_p.I94I NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 94 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GGGAGAAAATCATGCCAGATT 0.378000 23 21 0 0 0.002780 0 0 NEB 4703 broad.mit.edu 37 2 152410459 152410459 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:152410459C>T ENST00000397345.3 - 126 19711 c.19509G>A c.(19507-19509)aaG>aaA p.K6503K NEB_ENST00000603639.1_Silent_p.K6503K|NEB_ENST00000172853.10_Silent_p.K4802K|NEB_ENST00000604864.1_Silent_p.K6503K|NEB_ENST00000409198.1_Silent_p.K4802K|NEB_ENST00000427231.2_Silent_p.K6503K NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 4802 Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTGGGAATCCTTGGCAGTAA 0.453000 86 53 0 0 0.003610 0 0 APOB 338 broad.mit.edu 37 2 21229895 21229895 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:21229895C>T ENST00000233242.1 - 26 9972 c.9845G>A c.(9844-9846)aGt>aAt p.S3282N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3282 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) GATGGAGAAACTAGGCATGCT 0.468000 411 190 0 0 0.003610 0 0 BIN2 51411 broad.mit.edu 37 12 51695812 51695812 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:51695812C>T ENST00000267012.4 - 5 461 c.400G>A c.(400-402)Gaa>Aaa p.E134K BIN2_ENST00000604560.1_Missense_Mutation_p.E107K|BIN2_ENST00000544402.1_Missense_Mutation_p.E108K|BIN2_ENST00000452142.2_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 134 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 ACCTTAATTTCACTGAACTGG 0.418000 9 27 0 0 0.004482 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131798931 131798931 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:131798931G>A ENST00000392953.3 + 9 1752 c.1233G>A c.(1231-1233)atG>atA p.M411I ARHGEF4_ENST00000525839.1_Missense_Mutation_p.M411I|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.M351I|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.M411I|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.M340I NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 411 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TGCAGAAGATGATTGACATCT 0.587000 38 22 0 0 0.004878 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745814 23745814 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:23745814G>A ENST00000357460.5 - 2 787 c.623C>T c.(622-624)cCt>cTt p.P208L HOMEZ_ENST00000561013.1_Missense_Mutation_p.P210L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P210L NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 208 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TCCACTGCCAGGTGTCATCAG 0.532000 31 80 0 0 0.008361 0 0 TRIP13 9319 broad.mit.edu 37 5 916028 916028 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:916028G>A ENST00000166345.3 + 12 1499 c.1143G>A c.(1141-1143)gaG>gaA p.E381E TRIP13_ENST00000510412.1_3'UTR NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 381 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GGAAGAGCGAGGGCCTCAGCG 0.542000 113 71 0 0 0.003610 0 0 OR51E1 143503 broad.mit.edu 37 11 4673853 4673853 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4673853C>T ENST00000396952.5 + 2 747 c.97C>T c.(97-99)Cca>Tca p.P33S OR51E1_ENST00000530215.1_Missense_Mutation_p.P33S NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTGGCCTTCCCATTGTGCTC 0.468000 46 69 0 0 0.003610 0 0 SLC13A2 9058 broad.mit.edu 37 17 26823577 26823577 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:26823577C>T ENST00000444914.3 + 11 2147 c.1727C>T c.(1726-1728)tCt>tTt p.S576F SLC13A2_ENST00000545060.1_Missense_Mutation_p.S484F|SLC13A2_ENST00000537681.1_Missense_Mutation_p.S456F|SLC13A2_ENST00000314669.5_Missense_Mutation_p.S527F NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 527 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ATCGTCTTCTCTTTCGGGGAC 0.557000 22 42 0 0 0.003954 0 0 KCNK1 3775 broad.mit.edu 37 1 233807177 233807177 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:233807177C>T ENST00000366621.3 + 3 1080 c.912C>T c.(910-912)atC>atT p.I304I KCNK1_ENST00000366620.1_Silent_p.I188I|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 304 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCTCCTCGATCACAGACCAGG 0.488000 38 51 0 0 0.004289 0 0 KLK6 5653 broad.mit.edu 37 19 51465128 51465128 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:51465128G>A ENST00000376851.3 - 5 893 c.454C>T c.(454-456)Cct>Tct p.P152S KLK6_ENST00000391808.1_Missense_Mutation_p.P45S|KLK6_ENST00000310157.2_Missense_Mutation_p.P152S|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.P152S|KLK6_ENST00000456750.2_Missense_Mutation_p.P45S|CTB-147C22.8_ENST00000601506.1_RNA NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 152 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ATGGTGTCAGGGAAATCACCT 0.587000 20 43 0 0 0.002299 0 0 LRP2 4036 broad.mit.edu 37 2 170029621 170029621 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:170029621C>T ENST00000263816.3 - 57 11413 c.11128G>A c.(11128-11130)Gat>Aat p.D3710N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3710 LDL-receptor class A 30. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCTTGCTCATCACTGTTGTCC 0.498000 36 18 0 0 0.008740 0 0 USP49 25862 broad.mit.edu 37 6 41774178 41774178 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:41774178T>C ENST00000394253.3 - 3 873 c.544A>G c.(544-546)Aag>Gag p.K182E USP49_ENST00000297229.2_Missense_Mutation_p.K182E|USP49_ENST00000373010.1_Missense_Mutation_p.K182E|USP49_ENST00000373006.1_Missense_Mutation_p.K182E|USP49_ENST00000373009.3_Missense_Mutation_p.K182E Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 182 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCTCCTCCTTCTTGCGCTCC 0.726000 20 22 0 0 0.008871 0 0 CPD 1362 broad.mit.edu 37 17 28783503 28783503 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:28783503A>T ENST00000225719.4 + 17 3533 c.3457A>T c.(3457-3459)Atg>Ttg p.M1153L CPD_ENST00000543464.2_Missense_Mutation_p.M906L|CPD_ENST00000584051.1_3'UTR NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1153 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGGAGGAGTAATGCGTGGAGC 0.438000 28 32 0 0 0.002096 0 0 DNAH8 1769 broad.mit.edu 37 6 38919147 38919147 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:38919147C>T ENST00000359357.3 + 80 11905 c.11651C>T c.(11650-11652)tCt>tTt p.S3884F RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4101F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3848F dynein, axonemal, heavy chain 8 p.S3884Y(2) 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 ATTGCAGATTCTTTGGAGGAG 0.398000 110 132 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179590133 179590133 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179590133C>G ENST00000589042.1 - 71 21022 c.20798G>C c.(20797-20799)gGt>gCt p.G6933A TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G6616A|TTN_ENST00000342992.6_Missense_Mutation_p.G5689A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6616 Ig-like 51. 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) CCTCATTCCACCATCATTCTT 0.413000 12 6 0 0 0.003163 0 0 GSDMB 55876 broad.mit.edu 37 17 38062490 38062490 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:38062490C>T ENST00000394175.2 - 5 919 c.696G>A c.(694-696)atG>atA p.M232I GSDMB_ENST00000520542.1_Missense_Mutation_p.M245I|GSDMB_ENST00000418519.1_Missense_Mutation_p.M254I|GSDMB_ENST00000394179.1_Missense_Mutation_p.M249I|GSDMB_ENST00000309481.7_Missense_Mutation_p.M241I|GSDMB_ENST00000360317.3_Missense_Mutation_p.M254I NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 249 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 ACTTCTCCTTCATGTTTCTGG 0.498000 20 56 0 0 0.002780 0 0 PTPRE 5791 broad.mit.edu 37 10 129868693 129868693 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:129868693C>T ENST00000254667.3 + 14 1551 c.1272C>T c.(1270-1272)atC>atT p.I424I PTPRE_ENST00000419012.2_Silent_p.I424I|PTPRE_ENST00000306042.5_Silent_p.I366I NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 424 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TCGACAAGATCGGGCTGGAGG 0.567000 4 20 0 0 0.000602 0 0 CSMD1 64478 broad.mit.edu 37 8 3266994 3266994 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:3266994G>A ENST00000602557.1 - 14 2253 c.1698C>T c.(1696-1698)atC>atT p.I566I CSMD1_ENST00000400186.3_Silent_p.I566I|CSMD1_ENST00000542608.1_Silent_p.I565I|CSMD1_ENST00000537824.1_Silent_p.I565I|CSMD1_ENST00000520002.1_Silent_p.I566I|CSMD1_ENST00000539096.1_Silent_p.I565I|CSMD1_ENST00000602723.1_Silent_p.I566I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 566 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTGACAGGTGATAACTCTCT 0.557000 6 13 0 0 0.001984 0 0 CACNA1C 775 broad.mit.edu 37 12 2721185 2721185 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:2721185C>T ENST00000480911.1 + 29 3859 c.3834C>T c.(3832-3834)ggC>ggT p.G1278G CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000327702.7_Intron Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 0 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCAAGGTAGGCCTCTGAGAAA 0.527000 12 18 0 0 0.002450 0 0 ANKRD17 26057 broad.mit.edu 37 4 74005789 74005789 + Silent SNP G G A rs143690709 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:74005789G>A ENST00000358602.4 - 15 2660 c.2544C>T c.(2542-2544)atC>atT p.I848I ANKRD17_ENST00000509867.2_Silent_p.I735I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 848 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGAGCTCCTCGATCTTCTCCT 0.418000 66 139 0 0 0.003610 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911876 158911876 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:158911876C>T ENST00000368140.1 + 5 934 c.689C>T c.(688-690)tCc>tTc p.S230F PYHIN1_ENST00000392254.2_Missense_Mutation_p.S230F|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000485134.1_3'UTR 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 1 230 HIN-200. 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) AAATATGAATCCTCAGAAAAT 0.383000 25 52 0 0 0.005443 0 0 BCLAF1 9774 broad.mit.edu 37 6 136590624 136590624 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:136590624C>T ENST00000531224.1 - 9 2422 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K BCLAF1_ENST00000527759.1_Missense_Mutation_p.E722K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E551K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E724K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E722K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E722K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 724 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGAGTTTTTTCCTGCTTTCTT 0.393000 6 74 0 0 0.001984 0 0 PGK2 5232 broad.mit.edu 37 6 49754498 49754498 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:49754498G>A ENST00000304801.3 - 1 555 c.403C>T c.(403-405)Ccc>Tcc p.P135S NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 135 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTCCAGAGGGATCTTGGCCC 0.507000 36 69 0 0 0.004289 0 0 ZNF287 57336 broad.mit.edu 37 17 16455518 16455518 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:16455518T>G ENST00000395824.1 - 6 2555 c.1938A>C c.(1936-1938)aaA>aaC p.K646N ZNF287_ENST00000395825.3_Missense_Mutation_p.K646N Q9HBT7 ZN287_HUMAN zinc finger protein 287 639 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) ATTTAAAGGGTTTTTCTCCAT 0.388000 14 14 0 0 0.001855 0 0 TPK1 27010 broad.mit.edu 37 7 144320338 144320338 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:144320338G>A ENST00000360057.3 - 6 377 c.275C>T c.(274-276)tCa>tTa p.S92L TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.S87L|TPK1_ENST00000378099.3_Missense_Mutation_p.S92L|TPK1_ENST00000549981.1_5'UTR NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 92 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATCAGGAGTTGAAATGAGCTC 0.308000 98 213 0 0 0.003610 0 0 NOMO1 23420 broad.mit.edu 37 16 14973896 14973896 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:14973896C>T ENST00000287667.7 + 24 2953 c.2782C>T c.(2782-2784)Ccc>Tcc p.P928S NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 928 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTACTTCAAACCCATGATGAA 0.517000 41 128 0 0 0.003610 0 0 COL8A1 1295 broad.mit.edu 37 3 99513871 99513871 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:99513871G>A ENST00000261037.3 + 5 1506 c.1126G>A c.(1126-1128)Gag>Aag p.E376K COL8A1_ENST00000273342.4_Missense_Mutation_p.E376K NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 376 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ACCAAGAGGGGAGAAAGGACC 0.617000 9 19 0 0 0.004482 0 0 NCR1 9437 broad.mit.edu 37 19 55424075 55424075 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:55424075C>T ENST00000594765.1 + 7 773 c.748C>T c.(748-750)Cac>Tac p.H250Y NCR1_ENST00000598576.1_Missense_Mutation_p.H238Y|NCR1_ENST00000357397.5_Missense_Mutation_p.H144Y|NCR1_ENST00000447255.1_Missense_Mutation_p.H250Y|NCR1_ENST00000338835.5_Missense_Mutation_p.H234Y|NCR1_ENST00000350790.5_Missense_Mutation_p.H156Y|NCR1_ENST00000291890.4_Missense_Mutation_p.H251Y O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 251 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CCTCTGGGATCACACTGCCCA 0.478000 15 50 0 0 0.004007 0 0 DSCAML1 57453 broad.mit.edu 37 11 117651428 117651428 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:117651428C>T ENST00000321322.6 - 2 325 c.324G>A c.(322-324)ccG>ccA p.P108P DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 48 Ig-like C2-type 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCCCGCGGCCGGGCAGGGCA 0.662000 19 24 0 0 0.008871 0 0 FBLN5 10516 broad.mit.edu 37 14 92336596 92336596 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:92336596C>T ENST00000267620.10 - 12 1611 c.1442G>A c.(1441-1443)cGg>cAg p.R481Q FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000342058.4_Missense_Mutation_p.R440Q|FBLN5_ENST00000556154.1_Missense_Mutation_p.R445Q Q9UBX5 FBLN5_HUMAN fibulin 5 440 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CACATATATCCGCAGTCGGAT 0.552000 47 41 0 0 0.003214 0 0 C4BPB 725 broad.mit.edu 37 1 207269908 207269908 + Missense_Mutation SNP G G A rs75563598 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:207269908G>A ENST00000243611.5 + 4 745 c.451G>A c.(451-453)Gaa>Aaa p.E151K C4BPB_ENST00000367076.3_Missense_Mutation_p.E150K|C4BPB_ENST00000367078.3_Missense_Mutation_p.E151K|C4BPB_ENST00000391923.1_Missense_Mutation_p.E151K NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 151 Sushi 3. blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 TGGCTATTTTGAAGGAAATAA 0.468000 23 80 0 0 0.002780 0 0 TGM6 343641 broad.mit.edu 37 20 2375916 2375916 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:2375916A>C ENST00000202625.2 + 3 319 c.258A>C c.(256-258)acA>acC p.T86T TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.T86T NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 86 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGGGCTGGACAGCAGCAAGGG 0.612000 9 21 0 0 0.004482 0 0 PRSS1 5644 broad.mit.edu 37 7 142459673 142459673 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:142459673G>A ENST00000486171.1 + 4 308 c.291G>A c.(289-291)ggG>ggA p.G97G PRSS1_ENST00000311737.7_Silent_p.G83G P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 83 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity 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) TCCTGGAGGGGAATGAGCAGT 0.547000 56 127 0 0 0.003610 0 0 DRD5 1816 broad.mit.edu 37 4 9783893 9783893 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:9783893C>T ENST00000304374.2 + 1 636 c.240C>T c.(238-240)atC>atT p.I80I NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 80 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ACGTCTTCATCGTGTCTCTGG 0.632000 15 35 0 0 0.003163 0 0 NUMA1 4926 broad.mit.edu 37 11 71727571 71727571 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:71727571G>A ENST00000393695.3 - 14 1456 c.1125C>T c.(1123-1125)tgC>tgT p.C375C NUMA1_ENST00000358965.6_Silent_p.C375C|NUMA1_ENST00000351960.6_Silent_p.C375C|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 375 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TCTCTTCAAGGCATTTCTGGG 0.512000 T RARA APL 18 49 0 0 0.001882 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394846 233394846 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:233394846C>T ENST00000258229.8 - 5 996 c.762G>A c.(760-762)aaG>aaA p.K254K PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 254 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GGGGCAACTTCTTCAAGGGTC 0.502000 24 117 0 0 0.003330 0 0 TEX15 56154 broad.mit.edu 37 8 30699874 30699874 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:30699874C>T ENST00000256246.2 - 1 6734 c.6660G>A c.(6658-6660)agG>agA p.R2220R NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2220 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) CTAAATCTTTCCTAGGGGCAG 0.338000 31 83 0 0 0.001786 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69334628 69334628 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:69334628G>A ENST00000305363.4 + 4 354 c.290G>A c.(289-291)aGg>aAg p.R97K NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 97 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.R97M(1) endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TCTCCATTAAGGGAAGAATTT 0.299000 48 127 0 0 0.003610 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416260 57416260 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:57416260C>T ENST00000565912.1 + 2 3102 c.396C>T c.(394-396)ccC>ccT p.P132P CX3CL1_ENST00000006053.6_Silent_p.P170P|CX3CL1_ENST00000563383.1_Silent_p.P176P|CX3CL1_ENST00000564948.1_3'UTR P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 170 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CCAGGCTCCCCCCGACGCCAA 0.682000 28 38 0 0 0.008361 0 0 OR10A3 26496 broad.mit.edu 37 11 7960951 7960951 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:7960951C>T ENST00000360759.3 - 1 190 c.117G>A c.(115-117)ctG>ctA p.L39L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATTTCCCATCAGGGTCACCA 0.473000 30 36 0 0 0.008361 0 0 SPATA8 145946 broad.mit.edu 37 15 97326937 97326937 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:97326937G>A ENST00000328504.3 + 1 319 c.52G>A c.(52-54)Gaa>Aaa p.E18K SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 18 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTACCAGGAAATTGCCCC 0.552000 21 48 0 0 0.001523 0 0 PLCL2 23228 broad.mit.edu 37 3 17052619 17052619 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:17052619A>C ENST00000418129.2 + 2 1868 c.1403A>C c.(1402-1404)cAg>cCg p.Q468P PLCL2_ENST00000396755.2_Missense_Mutation_p.Q468P|PLCL2_ENST00000432376.1_Missense_Mutation_p.Q468P NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 594 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GAAATGTCTCAGAGGATGGGA 0.423000 11 22 0 0 0.008291 0 0 P2RY8 286530 broad.mit.edu 37 X 1585282 1585282 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:1585282G>A ENST00000381297.4 - 2 380 c.170C>T c.(169-171)cCg>cTg p.P57L NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 57 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GATGACCGACGGGGATCTGGG 0.622000 T CRLF2 """B-ALL, Downs associated ALL""" 24 37 0 0 0.003330 0 0 OR13G1 441933 broad.mit.edu 37 1 247836013 247836013 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:247836013G>A ENST00000359688.2 - 1 352 c.331C>T c.(331-333)Ctc>Ttc p.L111F RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L111I(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGGTGAAGAGAACCATCTCA 0.468000 18 40 0 0 0.008871 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2979713 2979713 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:2979713G>A ENST00000399667.2 + 3 390 c.27G>A c.(25-27)caG>caA p.Q9Q FLYWCH1_ENST00000416288.2_Silent_p.Q9Q|FLYWCH1_ENST00000253928.9_Silent_p.Q9Q Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 9 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 CCAGCGAGCAGGAGGGCGAGA 0.692000 6 11 0 0 0.003080 0 0 EMR1 2015 broad.mit.edu 37 19 6921750 6921750 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:6921750C>T ENST00000312053.4 + 14 1684 c.1647C>T c.(1645-1647)atC>atT p.I549I EMR1_ENST00000381407.5_Silent_p.I408I|EMR1_ENST00000450315.3_Silent_p.I372I|EMR1_ENST00000381404.4_Silent_p.I497I|EMR1_ENST00000250572.8_Silent_p.I549I NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 549 GPS.|Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) AGAGGCCCATCTGTGTTTCCT 0.428000 19 20 0 0 0.006122 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340393 29340393 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:29340393G>A ENST00000269205.5 - 1 450 c.262C>T c.(262-264)Cga>Tga p.R88* SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.R78* NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 78 transport integral to membrane|mitochondrial inner membrane TACAAATTTCGAAATCCATCC 0.463000 33 75 0 0 0.002836 0 0 WNT2 7472 broad.mit.edu 37 7 116937682 116937682 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:116937682G>A ENST00000265441.3 - 4 1136 c.837C>T c.(835-837)atC>atT p.I279I NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 279 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CTCGGTCCCTGATACAGTAGT 0.393000 29 55 0 0 0.008361 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136307760 136307760 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:136307760C>T ENST00000371929.3 + 18 2574 c.2130C>T c.(2128-2130)tgC>tgT p.C710C ADAMTS13_ENST00000356589.2_Silent_p.C679C|ADAMTS13_ENST00000355699.2_Silent_p.C710C|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 710 TSP type-1 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACTACAGCTGCCTGGACCAGG 0.672000 28 17 0 0 0.006320 0 0 CNTN6 27255 broad.mit.edu 37 3 1337488 1337488 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:1337488G>A ENST00000446702.2 + 6 1285 c.658_splice c.e6+1 p.G220_splice CNTN6_ENST00000539053.1_Splice_Site_p.G148_splice|CNTN6_ENST00000350110.2_Splice_Site_p.G220_splice Q9UQ52 CNTN6_HUMAN contactin 6 220 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GCGCACTGATGGTAAGATAAT 0.448000 16 38 0 0 0.004990 0 0 NLRP3 114548 broad.mit.edu 37 1 247588113 247588113 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:247588113G>A ENST00000366497.2 + 4 2148 c.1368G>A c.(1366-1368)ggG>ggA p.G456G NLRP3_ENST00000348069.2_Silent_p.G456G|NLRP3_ENST00000391828.3_Silent_p.G456G|NLRP3_ENST00000366496.2_Silent_p.G456G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.G456G|NLRP3_ENST00000391827.2_Silent_p.G456G NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 456 NACHT. 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) CCCGGGGAGGGAGCCAGGAGC 0.592000 17 67 0 0 0.004990 0 0 LPAR2 9170 broad.mit.edu 37 19 19737444 19737444 + Missense_Mutation SNP C C A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:19737444C>A ENST00000542587.1 - 5 1552 c.650G>T c.(649-651)cGg>cTg p.R217L LPAR2_ENST00000407877.3_Missense_Mutation_p.R217L|LPAR2_ENST00000586703.1_Missense_Mutation_p.R217L Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 217 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 CTGCACTCGCCGCCGCACGTA 0.602000 31 69 8.16721e-17 9.84709e-17 0.002096 1 0 RAB40AL 282808 broad.mit.edu 37 X 102193023 102193023 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:102193023C>T ENST00000218249.5 + 1 824 c.777C>T c.(775-777)atC>atT p.I259I LL0XNC01-237H1.3_ENST00000413528.1_RNA NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 259 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 AAGTGAAGATCGTCTGCCCAC 0.537000 39 18 0 0 0.004878 0 0 CHPF2 54480 broad.mit.edu 37 7 150931226 150931226 + Silent SNP C C T rs143803281 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150931226C>T ENST00000035307.2 + 1 1642 c.129C>T c.(127-129)gtC>gtT p.V43V CHPF2_ENST00000495645.1_Silent_p.V35V NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 43 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 ATCCCTGTGTCGAGGCTGTAG 0.597000 27 63 0 0 0.008361 0 0 CPSF1 29894 broad.mit.edu 37 8 145620346 145620346 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:145620346G>A ENST00000349769.3 - 29 3333 c.3239C>T c.(3238-3240)tCc>tTc p.S1080F NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1080 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GCTGACCGGGGAGATGAGCTG 0.662000 16 33 0 0 0.006122 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427288 38427288 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:38427288C>T ENST00000322350.5 + 14 2334 c.1988C>T c.(1987-1989)tCc>tTc p.S663F EGFLAM_ENST00000397202.2_Missense_Mutation_p.S29F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S429F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S663F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 663 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GACTTCCTGTCCATCAACTTG 0.527000 65 120 0 0 0.003610 0 0 SLC37A1 54020 broad.mit.edu 37 21 44000468 44000468 + Nonstop_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:44000468T>G ENST00000352133.2 + 20 2582 c.1600T>G c.(1600-1602)Tga>Gga p.*534G SLC37A1_ENST00000398341.3_Nonstop_Mutation_p.*534G P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 0 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 TAAGGAACAGTGACACCCCAC 0.527000 7 30 0 0 0.004482 0 0 RASAL3 64926 broad.mit.edu 37 19 15566920 15566920 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:15566920G>A ENST00000343625.6 - 11 1796 c.1716C>T c.(1714-1716)tcC>tcT p.S572S NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 572 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CTCACTCGTAGGAATGGATAA 0.567000 19 50 0 0 0.001882 0 0 DNAH8 1769 broad.mit.edu 37 6 38793989 38793989 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:38793989G>A ENST00000359357.3 + 27 3508 c.3254G>A c.(3253-3255)cGa>cAa p.R1085Q DNAH8_ENST00000449981.2_Missense_Mutation_p.R1302Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1085Q dynein, axonemal, heavy chain 8 p.R1085Q(2) 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 TTACTCTGTCGATATCTGAAT 0.328000 26 41 0 0 0.006320 0 0 DAB1 1600 broad.mit.edu 37 1 57536707 57536707 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:57536707G>A ENST00000371236.2 - 7 849 c.586C>T c.(586-588)Cct>Tct p.P196S DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.P196S|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371230.1_Missense_Mutation_p.P196S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P196S|DAB1_ENST00000439789.2_Intron O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 196 cell differentiation|nervous system development p.P196S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TGGTACACAGGATCTTCAACA 0.433000 42 93 0 0 0.002852 0 0 NR2F1 7025 broad.mit.edu 37 5 92929450 92929450 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:92929450C>T ENST00000327111.3 + 3 2861 c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 392 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTTCTTCGTCCGTTTGGTAGG 0.567000 63 43 0 0 0.003610 0 0 MADD 8567 broad.mit.edu 37 11 47330880 47330880 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:47330880C>T ENST00000342922.4 + 24 4160 c.3803C>T c.(3802-3804)gCc>gTc p.A1268V MADD_ENST00000407859.3_Missense_Mutation_p.A1245V|MADD_ENST00000406482.1_Missense_Mutation_p.A1225V|MADD_ENST00000405573.2_Missense_Mutation_p.A137V|MADD_ENST00000402799.1_Missense_Mutation_p.A1225V|MADD_ENST00000402192.2_Missense_Mutation_p.A1267V|MADD_ENST00000395336.3_Missense_Mutation_p.A1327V|MADD_ENST00000395344.3_Missense_Mutation_p.A1221V|MADD_ENST00000349238.3_Missense_Mutation_p.A1288V|MADD_ENST00000311027.5_Missense_Mutation_p.A1327V NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1327 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TGGGAAGATGCCTTCTTAGAT 0.443000 22 40 0 0 0.002780 0 0 RP1 6101 broad.mit.edu 37 8 55540288 55540288 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:55540288T>C ENST00000220676.1 + 4 3994 c.3846T>C c.(3844-3846)ccT>ccC p.P1282P NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1282 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTTTTTTTCCTAGTGATGGTT 0.408000 48 117 0 0 0.003610 0 0 KIF1C 10749 broad.mit.edu 37 17 4926928 4926928 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:4926928C>T ENST00000320785.5 + 23 3151 c.2794C>T c.(2794-2796)Cct>Tct p.P932S NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 932 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGAGGAGGACCCTGCCTTCCG 0.716000 14 35 0 0 0.001855 0 0 SETX 23064 broad.mit.edu 37 9 135224736 135224736 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:135224736G>A ENST00000372169.2 - 3 262 c.80C>T c.(79-81)tCc>tTc p.S27F SETX_ENST00000224140.5_Missense_Mutation_p.S27F|SETX_ENST00000393220.1_Missense_Mutation_p.S27F Q7Z333 SETX_HUMAN senataxin 27 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AAATTCACCGGACGGAGTGTT 0.488000 28 15 0 0 0.004656 0 0 CLCN1 1180 broad.mit.edu 37 7 143049035 143049035 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143049035G>A ENST00000343257.2 + 23 3031 c.2944G>A c.(2944-2946)Gat>Aat p.D982N NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 982 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) AGACGAGGAGGATGAGGATGA 0.627000 47 64 0 0 0.003610 0 0 HERC2 8924 broad.mit.edu 37 15 28362298 28362298 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:28362298G>A ENST00000261609.7 - 87 13383 c.13275C>T c.(13273-13275)gtC>gtT p.V4425V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4425 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTGATCGTTTGACCTGGAGAG 0.622000 14 17 0 0 0.006122 0 0 SVEP1 79987 broad.mit.edu 37 9 113312281 113312281 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:113312281C>T ENST00000401783.2 - 2 971 c.635G>A c.(634-636)cGa>cAa p.R212Q SVEP1_ENST00000374469.1_Missense_Mutation_p.R189Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.R212Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.R189Q|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 212 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCCTGAATCTCGCAGTGACGC 0.458000 42 34 0 0 0.007835 0 0 SPOP 8405 broad.mit.edu 37 17 47685283 47685283 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:47685283G>A ENST00000393331.3 - 9 1137 c.667C>T c.(667-669)Ccg>Tcg p.P223S SPOP_ENST00000503676.1_Missense_Mutation_p.P223S|SPOP_ENST00000393328.2_Missense_Mutation_p.P223S|SPOP_ENST00000504102.1_Missense_Mutation_p.P223S|SPOP_ENST00000347630.2_Missense_Mutation_p.P223S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 223 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CTAAAAACCGGAGAACGAGCT 0.408000 Prostate(2;0.17) 60 116 0 0 0.003610 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38632042 38632042 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38632042C>T ENST00000222345.6 + 11 3871 c.3362C>T c.(3361-3363)cCc>cTc p.P1121L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1121 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCCATAGTCCCCTTCCGGGAG 0.647000 36 86 0 0 0.007835 0 0 OR52B4 143496 broad.mit.edu 37 11 4389397 4389397 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4389397C>T ENST00000408920.2 - 1 219 c.129G>A c.(127-129)ggG>ggA p.G43G NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAGGCTGTTCCCAAGAAGGG 0.527000 14 29 0 0 0.001855 0 0 COL19A1 1310 broad.mit.edu 37 6 70916851 70916851 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:70916851C>T ENST00000322773.4 + 51 3404 c.3301_splice c.e51-1 p.A1101_splice COL19A1_ENST00000393344.1_Splice_Site_p.A723_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1101 Triple-helical region 6 (COL6). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ATGTCGTTAGCTCTGGGTTTG 0.512000 55 146 0 0 0.003610 0 0 VILL 50853 broad.mit.edu 37 3 38035811 38035811 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38035811G>A ENST00000283713.6 + 4 461 c.195G>A c.(193-195)ggG>ggA p.G65G VILL_ENST00000383759.2_Silent_p.G65G|VILL_ENST00000465644.1_Intron O15195 VILL_HUMAN villin-like 65 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACTGGGTCGGGAAGCAGGCGG 0.697000 13 23 0 0 0.003163 0 0 STH 246744 broad.mit.edu 37 17 44076813 44076813 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:44076813C>T ENST00000537309.1 + 1 198 c.168C>T c.(166-168)tcC>tcT p.S56S MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 56 cytoplasm|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 AAGTAGCTTCCCTGTTGACCC 0.522000 15 40 0 0 0.002450 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805875 77805875 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:77805875C>T ENST00000380345.2 - 4 837 c.162G>A c.(160-162)ccG>ccA p.P54P LHFPL2_ENST00000515007.2_Silent_p.P54P NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 54 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) GGTAGGGCTCCGGGGAgcccc 0.706000 4 8 0 0 0.000248 0 0 MEGF6 1953 broad.mit.edu 37 1 3425766 3425766 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:3425766G>A ENST00000356575.4 - 12 1627 c.1401C>T c.(1399-1401)ttC>ttT p.F467F MEGF6_ENST00000294599.4_Silent_p.F362F NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 467 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GGGGCCGCACGAAAGGCAGCT 0.687000 4 5 0 0 0.000602 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973485 29973485 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:29973485T>C ENST00000378993.1 + 11 2312 c.1639T>C c.(1639-1641)Ttg>Ctg p.L547L IL1RAPL1_ENST00000302196.4_Silent_p.L547L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 547 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ATGCAACAAGTTGAACTCCAA 0.453000 8 11 0 0 0.006214 0 0 S100A7A 338324 broad.mit.edu 37 1 153391683 153391683 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:153391683G>A ENST00000368729.4 + 3 261 c.204G>A c.(202-204)aaG>aaA p.K68K S100A7A_ENST00000329256.2_Silent_p.K68K|S100A7A_ENST00000368728.2_Silent_p.K68K NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 68 EF-hand 2. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ATGAGGATAAGAAGATTGATT 0.443000 21 95 0 0 0.002299 0 0 OR2J2 26707 broad.mit.edu 37 6 29141408 29141408 + Translation_Start_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:29141408G>A ENST00000377167.2 + 0 98 NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 ATAAGAAAAAGATGAATGATG 0.358000 23 72 0 0 0.002299 0 0 APOB 338 broad.mit.edu 37 2 21230801 21230801 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:21230801G>A ENST00000233242.1 - 26 9066 c.8939C>T c.(8938-8940)tCc>tTc p.S2980F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2980 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) AAAGTTGAGGGAGCCAGATTC 0.428000 392 192 0 0 0.003610 0 0 SEPT6 23157 broad.mit.edu 37 X 118786936 118786936 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:118786936G>A ENST00000394610.1 - 4 673 c.409C>T c.(409-411)Cga>Tga p.R137* SEPT6_ENST00000394617.2_Nonsense_Mutation_p.R167*|SEPT6_ENST00000489216.1_Nonsense_Mutation_p.R137*|SEPT6_ENST00000360156.7_Nonsense_Mutation_p.R137*|SEPT6_ENST00000354416.3_Nonsense_Mutation_p.R137*|SEPT6_ENST00000354228.4_Nonsense_Mutation_p.R137*|SEPT6_ENST00000343984.5_Nonsense_Mutation_p.R137*|SEPT6_ENST00000394616.4_Nonsense_Mutation_p.R79* NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 137 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 AGCACTCTTCGGATCTTTAGC 0.512000 T MLL AML 27 14 0 0 0.001786 0 0 UBL7 84993 broad.mit.edu 37 15 74742300 74742300 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:74742300G>A ENST00000567435.1 - 7 1104 c.641C>T c.(640-642)tCc>tTc p.S214F UBL7_ENST00000564488.1_Missense_Mutation_p.S214F|UBL7_ENST00000361351.4_Missense_Mutation_p.S214F|UBL7_ENST00000395081.2_Missense_Mutation_p.S214F|UBL7_ENST00000565335.1_Missense_Mutation_p.S214F Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 214 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 GTATGAGCTGGAGGGCATGCT 0.592000 11 23 0 0 0.001855 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524815 26524815 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:26524815C>T ENST00000456354.2 + 6 784 c.717C>T c.(715-717)ttC>ttT p.F239F NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 239 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TTGGTGCATTCGTGCCCAAGC 0.512000 113 209 0 0 0.003610 0 0 MAP1A 4130 broad.mit.edu 37 15 43817994 43817994 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:43817994G>A ENST00000382031.1 + 5 5068 c.5037G>A c.(5035-5037)aaG>aaA p.K1679K MAP1A_ENST00000300231.5_Silent_p.K1441K|MAP1A_ENST00000399453.1_Silent_p.K1441K P78559 MAP1A_HUMAN microtubule-associated protein 1A 1441 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAAAAGACAAGGCCCTGGAAC 0.448000 12 28 0 0 0.000978 0 0 LOC645166 645166 broad.mit.edu 37 1 148932909 148932909 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:148932909C>T ENST00000539543.1 + 0 165 NR_027355.1 GGCCAAGACTCCGTCCTGCAA 0.607000 8 185 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113662432 113662432 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:113662432C>T ENST00000297405.5 - 19 3395 c.3151G>A c.(3151-3153)Gaa>Aaa p.E1051K CSMD3_ENST00000343508.3_Missense_Mutation_p.E1011K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1051K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E947K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1051 Sushi 5. integral to membrane|plasma membrane p.E1051K(1) 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 TGGTTTTTTTCGCATAGAAGG 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 76 0 0 0.003330 0 0 PLCB4 5332 broad.mit.edu 37 20 9440329 9440329 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:9440329C>T ENST00000378501.2 + 31 3099 c.3084C>T c.(3082-3084)atC>atT p.I1028I PLCB4_ENST00000334005.3_Silent_p.I1028I|PLCB4_ENST00000378473.3_Silent_p.I1040I|PLCB4_ENST00000378493.1_Silent_p.I1028I|PLCB4_ENST00000414679.2_Silent_p.I1040I|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000278655.4_Silent_p.I1028I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1028 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 CAGAAATGATCAATACCCACA 0.483000 7 27 0 0 0.003080 0 0 OR6X1 390260 broad.mit.edu 37 11 123624355 123624355 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:123624355C>T ENST00000327930.2 - 1 898 c.872G>A c.(871-873)aGa>aAa p.R291K NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCCTTGTTTCTAATAGTATA 0.418000 61 74 0 0 0.003610 0 0 MAP10 54627 broad.mit.edu 37 1 232942561 232942561 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:232942561G>A ENST00000418460.1 + 1 1919 c.1792G>A c.(1792-1794)Gga>Aga p.G598R NM_019090.2 NP_061963.2 microtubule-associated protein 10 TTCTGTGGGGGGATGTGAAAA 0.423000 17 44 0 0 0.004990 0 0 SLC9A8 23315 broad.mit.edu 37 20 48481307 48481307 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:48481307C>T ENST00000417961.1 + 10 1142 c.932C>T c.(931-933)cCt>cTt p.P311L SLC9A8_ENST00000361573.2_Missense_Mutation_p.P295L|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.P76L NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 295 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) AGGAAAACGCCTTCCTTGGAG 0.453000 18 68 0 0 0.007413 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6428092 6428092 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:6428092G>A ENST00000536531.1 + 12 1636 c.1457G>A c.(1456-1458)gGg>gAg p.G486E PLEKHG6_ENST00000011684.7_Intron|PLEKHG6_ENST00000449001.2_Intron|PLEKHG6_ENST00000396988.3_Intron Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 559 PH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 TCTCAGCGAGGGGAAGGAGGA 0.562000 5 19 0 0 0.000602 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764926 109764926 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:109764926C>T ENST00000602699.1 + 0 1387 NR_002718.2 TACTATTAATCGACATTGACC 0.408000 19 4 0 0 0.001523 0 0 NCOR2 9612 broad.mit.edu 37 12 124979719 124979719 + Missense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:124979719G>T ENST00000356219.3 - 2 234 c.79C>A c.(79-81)Cca>Aca p.P27T NCOR2_ENST00000429285.2_Missense_Mutation_p.P27T|NCOR2_ENST00000404621.1_Missense_Mutation_p.P27T|NCOR2_ENST00000397355.1_Missense_Mutation_p.P27T|NCOR2_ENST00000405201.1_Missense_Mutation_p.P27T|NCOR2_ENST00000404121.2_5'UTR NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 27 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) ATCTGCACTGGGTAGGAAAGG 0.647000 17 28 1.50039e-11 1.80355e-11 0.001882 1 0 CACNA1A 773 broad.mit.edu 37 19 13476165 13476165 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:13476165T>C ENST00000360228.5 - 5 749 c.750A>G c.(748-750)ggA>ggG p.G250G CACNA1A_ENST00000573710.2_Silent_p.G250G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 250 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TATGAAATTTTCCCATATAAA 0.443000 45 97 0 0 0.003610 0 0 TROVE2 6738 broad.mit.edu 37 1 193038753 193038753 + Missense_Mutation SNP C C A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:193038753C>A ENST00000367446.3 + 2 779 c.569C>A c.(568-570)cCt>cAt p.P190H TROVE2_ENST00000367444.3_Missense_Mutation_p.P190H|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.P190H|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.P190H|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.P190H|TROVE2_ENST00000400968.2_Missense_Mutation_p.P190H NM_004600.5 NP_004591.2 P10155 RO60_HUMAN TROVE domain family, member 2 190 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 CATCTTAAACCTTCCAGTGAA 0.363000 17 70 4.7546e-09 5.70839e-09 0.004007 1 0 OR12D3 81797 broad.mit.edu 37 6 29342328 29342328 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:29342328A>C ENST00000396806.3 - 1 740 c.737T>G c.(736-738)gTg>gGg p.V246G OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 AAGACATACCACCATAAAATG 0.473000 9 31 0 0 0.004482 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779702 31779702 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:31779702G>A ENST00000375654.4 - 2 237 c.48C>T c.(46-48)acC>acT p.T16T HSPA1L_ENST00000417199.3_Silent_p.T16T NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 16 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CACAGGAGTAGGTGGTGCCCA 0.572000 88 360 0 0 0.003610 0 0 OAF 220323 broad.mit.edu 37 11 120099837 120099837 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:120099837C>T ENST00000328965.4 + 4 1321 c.808C>T c.(808-810)Ccc>Tcc p.P270S OAF_ENST00000531220.1_Missense_Mutation_p.P154S NM_178507.2 NP_848602.1 Q86UD1 OAF_HUMAN OAF homolog (Drosophila) 270 kidney(1)|lung(5) 6 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) GGATGAGGATCCCTACCCAGG 0.647000 18 23 0 0 0.001882 0 0 FNTB 2342 broad.mit.edu 37 14 65494184 65494184 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:65494184C>T ENST00000246166.2 + 5 622 c.388C>T c.(388-390)Ctg>Ttg p.L130L MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000447296.2_Silent_p.L164L|CHURC1-FNTB_ENST00000448390.2_5'UTR|CHURC1-FNTB_ENST00000542227.1_Silent_p.L84L|FNTB_ENST00000555742.1_3'UTR NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) GTGTCAGTTCCTGGAGCTGTG 0.493000 64 129 0 0 0.003610 0 0 CALML5 51806 broad.mit.edu 37 10 5541038 5541038 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:5541038T>G ENST00000380332.3 - 1 495 c.364A>C c.(364-366)Atg>Ctg p.M122L NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 122 EF-hand 4. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 TCGCGGATCATGGCGTCCAGC 0.711000 7 7 0 0 0.003080 0 0 SEC14L5 9717 broad.mit.edu 37 16 5046880 5046880 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:5046880C>T ENST00000251170.7 + 8 985 c.805C>T c.(805-807)Cgg>Tgg p.R269W NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 269 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GCACATCCTTCGGTTCCTGCG 0.547000 10 24 0 0 0.008291 0 0 KLKB1 3818 broad.mit.edu 37 4 187153328 187153328 + Missense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:187153328G>T ENST00000264690.6 + 3 293 c.106G>T c.(106-108)Gta>Tta p.V36L KLKB1_ENST00000513864.1_Missense_Mutation_p.V36L NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 36 Apple 1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) AGGTGGGGATGTAGCTTCCAT 0.393000 23 61 1.80694e-10 2.17073e-10 0.001786 1 0 VAMP8 8673 broad.mit.edu 37 2 85808710 85808710 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:85808710C>G ENST00000263864.5 + 3 330 c.174C>G c.(172-174)ttC>ttG p.F58L VAMP8_ENST00000432071.1_Missense_Mutation_p.F32L|VAMP8_ENST00000409760.1_3'UTR NM_003761.4 NP_003752.2 Q9BV40 VAMP8_HUMAN vesicle-associated membrane protein 8 58 v-SNARE coiled-coil homology. post-Golgi vesicle-mediated transport early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane breast(1)|endometrium(2)|large_intestine(1)|stomach(2) 6 CTGAGCACTTCAAGACGACAT 0.473000 6 96 0 0 0.001168 0 0 THEMIS 387357 broad.mit.edu 37 6 128151021 128151021 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:128151021C>T ENST00000368250.1 - 4 570 c.72G>A c.(70-72)agG>agA p.R24R THEMIS_ENST00000543064.1_Silent_p.R103R|THEMIS_ENST00000368248.2_Silent_p.R103R|THEMIS_ENST00000537166.1_Silent_p.R68R Q8N1K5 THMS1_HUMAN thymocyte selection associated 103 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TATGAATGGTCCTTGTGATTT 0.363000 25 61 0 0 0.007291 0 0 ANXA3 306 broad.mit.edu 37 4 79503353 79503353 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:79503353G>A ENST00000264908.6 + 5 600 c.221G>A c.(220-222)gGt>gAt p.G74D ANXA3_ENST00000512884.1_Missense_Mutation_p.G35D|ANXA3_ENST00000503570.2_Missense_Mutation_p.G35D NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 74 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GACTTGAAGGGTGATCTCTCT 0.418000 25 48 0 0 0.005443 0 0 CLEC18B 497190 broad.mit.edu 37 16 74455147 74455147 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:74455147G>A ENST00000339953.5 - 1 143 c.22C>T c.(22-24)Cct>Tct p.P8S NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 8 extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CCCCGGCCAGGGGAGGTCTCT 0.682000 21 40 0 0 0.001882 0 0 NDOR1 27158 broad.mit.edu 37 9 140108686 140108686 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:140108686C>T ENST00000371521.4 + 6 626 c.543C>T c.(541-543)ctC>ctT p.L181L NDOR1_ENST00000458322.2_Silent_p.L181L|NDOR1_ENST00000427047.2_Silent_p.L147L|NDOR1_ENST00000344894.5_Silent_p.L181L NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 181 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGCTGTTCCTCCAAGAGGCAC 0.682000 13 7 0 0 0.002450 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121991770 121991770 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:121991770C>T ENST00000263707.5 - 12 1192 c.1094_splice c.e12-1 p.R365_splice NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 365 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GCCTCACATTCCTGGCAGGAG 0.507000 45 16 0 0 0.002852 0 0 GPR98 84059 broad.mit.edu 37 5 89989777 89989777 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:89989777G>A ENST00000405460.2 + 33 7300 c.7204G>A c.(7204-7206)Gag>Aag p.E2402K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2402 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTGGCAATGGAGGAAGGTCA 0.483000 17 9 0 0 0.004990 0 0 KMT2D 8085 broad.mit.edu 37 12 49445153 49445153 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:49445153G>A ENST00000301067.7 - 10 2312 c.2313C>T c.(2311-2313)tcC>tcT p.S771S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAGGCTGGGGGGACAGGTGTG 0.682000 14 25 0 0 0.004007 0 0 IGF2R 3482 broad.mit.edu 37 6 160494795 160494795 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:160494795T>G ENST00000356956.1 + 35 5102 c.4954T>G c.(4954-4956)Tgt>Ggt p.C1652G NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1652 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ACAGACCGAATGTTCCGTGAG 0.403000 12 35 0 0 0.002450 0 0 OR5B12 390191 broad.mit.edu 37 11 58206915 58206915 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:58206915G>A ENST00000302572.2 - 1 731 c.710C>T c.(709-711)tCt>tTt p.S237F NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S237C(1) large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGCACAAGTAGAAAAGGCCTT 0.418000 11 24 0 0 0.001368 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691241 18691241 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:18691241G>A ENST00000433979.1 + 24 3468 c.3352G>A c.(3352-3354)Gaa>Aaa p.E1118K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1159K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1118K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1118 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GAACCTGCTGGAAATGGTAAG 0.393000 24 48 0 0 0.005443 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301965 110301965 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:110301965A>C ENST00000369805.3 - 5 529 c.300T>G c.(298-300)aaT>aaG p.N100K EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Missense_Mutation_p.N100K|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.N100K NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 100 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGAGCGCCACATTCATGGCCT 0.597000 161 125 0 0 0.003610 0 0 LRP4 4038 broad.mit.edu 37 11 46916738 46916738 + Missense_Mutation SNP G G A rs140528156 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:46916738G>A ENST00000378623.1 - 11 1530 c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 430 EGF-like 2; calcium-binding (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CAGCTGCGCCGGTCGGGCCGT 0.607000 20 40 0 0 0.008871 0 0 CCDC24 149473 broad.mit.edu 37 1 44459600 44459600 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:44459600A>C ENST00000372318.3 + 5 632 c.461A>C c.(460-462)aAc>aCc p.N154T SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 154 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GACCAACTGAACGTGTCCAAC 0.562000 20 33 0 0 0.002299 0 0 ARSJ 79642 broad.mit.edu 37 4 114823887 114823887 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:114823887G>A ENST00000315366.7 - 2 2209 c.1343C>T c.(1342-1344)gCc>gTc p.A448V ARSJ_ENST00000541197.1_Missense_Mutation_p.A448V NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 448 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CACTCTGATGGCTGACTGGAT 0.522000 34 67 0 0 0.004878 0 0 DNM3 26052 broad.mit.edu 37 1 172292470 172292470 + Splice_Site SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:172292470G>C ENST00000358155.4 + 17 2059 c.1881_splice c.e17-1 p.G628_splice DNM3_ENST00000367731.1_Intron|DNM3_ENST00000355305.5_Intron NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 637 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CATGCATAGGGGAACAACAAA 0.408000 10 13 0 0 0.001855 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566434 45566434 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:45566434G>A ENST00000588982.1 - 3 1546 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P349S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P349S|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P349S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P349S A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 349 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGGGGCCAGGGTGGGAAGAGG 0.647000 32 85 0 0 0.003271 0 0 TIAM2 26230 broad.mit.edu 37 6 155450986 155450986 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:155450986C>T ENST00000461783.3 + 6 1902 c.629C>T c.(628-630)cCt>cTt p.P210L TIAM2_ENST00000456144.1_Missense_Mutation_p.P210L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P210L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P210L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.P210L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 210 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAAACCTCCCCTGTGCCTGAA 0.637000 9 39 0 0 0.008291 0 0 P2RY10 27334 broad.mit.edu 37 X 78217006 78217006 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:78217006G>A ENST00000171757.2 + 4 1269 c.989G>A c.(988-990)aGc>aAc p.S330N P2RY10_ENST00000544091.1_Missense_Mutation_p.S330N NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 330 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CGCCTCATGAGCAAGGAGAGT 0.428000 41 18 0 0 0.003610 0 0 CD40 958 broad.mit.edu 37 20 44757560 44757560 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:44757560C>T ENST00000372285.3 + 9 787 c.715C>T c.(715-717)Ccc>Tcc p.P239S CD40_ENST00000372276.3_3'UTR|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 239 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) GATCAATTTTCCCGACGATCT 0.607000 Immune Deficiency with Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 43 0 0 0.004990 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561576 11561576 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:11561576C>T ENST00000294484.6 + 2 665 c.527C>T c.(526-528)cCc>cTc p.P176L PTCHD2_ENST00000389575.3_Missense_Mutation_p.P176L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 176 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGCGTCATCCCCGCGGCCTCA 0.687000 8 19 0 0 0.006214 0 0 ZNF556 80032 broad.mit.edu 37 19 2878238 2878238 + Missense_Mutation SNP G G A rs35494032 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:2878238G>A ENST00000586426.1 + 4 1366 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K ZNF556_ENST00000307635.2_Missense_Mutation_p.E428K Q9HAH1 ZN556_HUMAN zinc finger protein 556 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) CAGTAAATGCGAAAAATGTGG 0.448000 42 120 0 0 0.003214 0 0 GPRC6A 222545 broad.mit.edu 37 6 117116940 117116940 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:117116940C>T ENST00000310357.3 - 5 1628 c.1607G>A c.(1606-1608)aGa>aAa p.R536K GPRC6A_ENST00000368549.3_Missense_Mutation_p.R465K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R361K NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 536 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GTGTTGACTTCTTGTAGTTTT 0.338000 16 36 0 0 0.004007 0 0 KCNU1 157855 broad.mit.edu 37 8 36768475 36768475 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:36768475C>T ENST00000399881.3 + 22 2396 c.2359C>T c.(2359-2361)Cat>Tat p.H787Y NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 787 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGGAGACCTCCATGCGGCCAA 0.527000 20 51 0 0 0.001882 0 0 KCNA1 3736 broad.mit.edu 37 12 5021335 5021335 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:5021335C>T ENST00000382545.3 + 2 1898 c.791C>T c.(790-792)cCt>cTt p.P264L KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 264 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCCATCATTCCTTATTTCATC 0.542000 38 45 0 0 0.008740 0 0 TSIX 9383 broad.mit.edu 37 X 73040479 73040479 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:73040479C>T ENST00000604411.1 + 0 28440 NR_003255.2 ATTGTCACATCAAAATACAAA 0.269000 7 2 0 0 0.003080 0 0 OR2A5 393046 broad.mit.edu 37 7 143747612 143747612 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143747612G>A ENST00000408906.2 + 1 152 c.118G>A c.(118-120)Gga>Aga p.G40R NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CACCCTGCTGGGAAATGGGGC 0.512000 31 62 0 0 0.001786 0 0 DNAH8 1769 broad.mit.edu 37 6 38891881 38891881 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:38891881G>A ENST00000359357.3 + 71 10508 c.10254G>A c.(10252-10254)cgG>cgA p.R3418R RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.R3635R|DNAH8_ENST00000441566.1_Silent_p.R3382R|RP1-207H1.3_ENST00000418399.1_RNA 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 TGAGAGCACGGAAAATTCCTT 0.373000 28 55 0 0 0.006320 0 0 AQP9 366 broad.mit.edu 37 15 58465319 58465319 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:58465319G>A ENST00000219919.4 + 3 661 c.291G>A c.(289-291)atG>atA p.M97I ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.M32I|AQP9_ENST00000536493.1_Missense_Mutation_p.M97I NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 97 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TTGGACGGATGAAATGGTTCA 0.478000 76 173 0 0 0.003610 0 0 FRS3 10817 broad.mit.edu 37 6 41744686 41744686 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:41744686G>A ENST00000373018.3 - 3 291 c.40C>T c.(40-42)Cca>Tca p.P14S FRS3_ENST00000466420.1_5'UTR|FRS3_ENST00000259748.2_Missense_Mutation_p.P14S NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 14 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGTTGTCTGGAACGCTGTCT 0.547000 30 103 0 0 0.004289 0 0 ZNF445 353274 broad.mit.edu 37 3 44491960 44491960 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:44491960A>T ENST00000425708.2 - 5 1140 c.799T>A c.(799-801)Tat>Aat p.Y267N ZNF445_ENST00000396077.2_Missense_Mutation_p.Y267N P59923 ZN445_HUMAN zinc finger protein 445 267 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) ATGTTCCTATAATTCTCCAGC 0.483000 33 42 0 0 0.002836 0 0 SPAG17 200162 broad.mit.edu 37 1 118565958 118565958 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:118565958C>T ENST00000336338.5 - 28 4103 c.4038G>A c.(4036-4038)acG>acA p.T1346T NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1346 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CAGATGGTATCGTTTCTGATT 0.398000 18 48 0 0 0.006122 0 0 RYR1 6261 broad.mit.edu 37 19 38976621 38976621 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:38976621C>T ENST00000355481.4 + 34 5457 c.5326C>T c.(5326-5328)Cat>Tat p.H1776Y RYR1_ENST00000359596.3_Missense_Mutation_p.H1776Y|RYR1_ENST00000360985.3_Missense_Mutation_p.H1776Y NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1776 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) GCCCCCGCATCATTTCTCGCC 0.687000 15 29 0 0 0.003163 0 0 TRPM6 140803 broad.mit.edu 37 9 77397640 77397640 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:77397640G>A ENST00000451710.3 - 22 3286 c.3049C>T c.(3049-3051)Cca>Tca p.P1017S TRPM6_ENST00000376864.4_Missense_Mutation_p.P1017S|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1012S|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1012S|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1017S Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1017 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 ATCCAGTATGGCTCAAATACA 0.458000 27 34 0 0 0.005443 0 0 KRT1 3848 broad.mit.edu 37 12 53073632 53073632 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:53073632C>T ENST00000252244.3 - 1 559 c.501G>A c.(499-501)gtG>gtA p.V167V NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 167 Head. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GGTCAATCTCCACATTGAGGG 0.493000 40 90 0 0 0.003214 0 0 GOLGA4 2803 broad.mit.edu 37 3 37366306 37366306 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:37366306C>T ENST00000361924.2 + 14 3303 c.2929C>T c.(2929-2931)Cag>Tag p.Q977* GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q999* NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 977 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ATTACTGGATCAGGAAGCCAA 0.338000 38 78 0 0 0.008740 0 0 CARD11 84433 broad.mit.edu 37 7 2963920 2963920 + Missense_Mutation SNP A A C rs150116627 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:2963920A>C ENST00000396946.4 - 15 2290 c.1887T>G c.(1885-1887)gaT>gaG p.D629E NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 629 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGTCGTAGGCATCCAGGCCCT 0.597000 Mis DLBCL 14 75 0 0 0.004007 0 0 SAMD4A 23034 broad.mit.edu 37 14 55236922 55236922 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:55236922G>A ENST00000251091.5 + 7 1738 c.1433G>A c.(1432-1434)gGa>gAa p.G478E SAMD4A_ENST00000555192.1_Missense_Mutation_p.G157E|SAMD4A_ENST00000392067.3_Missense_Mutation_p.G566E|SAMD4A_ENST00000357634.3_Missense_Mutation_p.G565E|SAMD4A_ENST00000554335.1_Missense_Mutation_p.G566E NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 566 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 GACATATCAGGATATCGACAG 0.458000 50 106 0 0 0.003610 0 0 FAM47A 158724 broad.mit.edu 37 X 34148365 34148365 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:34148365C>T ENST00000346193.3 - 1 2082 c.2031G>A c.(2029-2031)agG>agA p.R677R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 677 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGTGGAATTTCCTGCCCCAGT 0.433000 27 18 0 0 0.005443 0 0 GNAS 2778 broad.mit.edu 37 20 57429123 57429123 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:57429123C>T ENST00000371100.4 + 1 1355 c.803C>T c.(802-804)cCc>cTc p.P268L GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P268L|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.P268L|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.P205S|GNAS_ENST00000371098.2_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CGCCTCACTCCCGCCGCGAAC 0.692000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 4 22 0 0 0.000248 0 0 ZNF454 285676 broad.mit.edu 37 5 178392301 178392301 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:178392301C>T ENST00000320129.3 + 5 1199 c.896C>T c.(895-897)cCt>cTt p.P299L ZNF454_ENST00000519564.1_Missense_Mutation_p.P299L NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P299H(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GGAGAGAAACCTTTTAAATGT 0.383000 20 63 0 0 0.008871 0 0 OR52M1 119772 broad.mit.edu 37 11 4566561 4566561 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4566561C>T ENST00000360213.1 + 1 141 c.141C>T c.(139-141)atC>atT p.I47I NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTGACCATCCTGGCTGTGG 0.547000 28 65 0 0 0.006320 0 0 ERBB4 2066 broad.mit.edu 37 2 212812239 212812239 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:212812239C>T ENST00000342788.4 - 3 647 c.337G>A c.(337-339)Gat>Aat p.D113N ERBB4_ENST00000402597.1_Missense_Mutation_p.D113N|ERBB4_ENST00000436443.1_Missense_Mutation_p.D113N|ERBB4_ENST00000484474.1_5'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 113 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCATATCGATCCTCATAAAGT 0.383000 TSP Lung(8;0.080) 39 14 0 0 0.006999 0 0 ARID3A 1820 broad.mit.edu 37 19 964880 964880 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:964880G>A ENST00000263620.3 + 6 1325 c.998G>A c.(997-999)aGt>aAt p.S333N NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 333 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 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) CGGGGCCTCAGTAACCCCAAT 0.632000 24 32 0 0 0.005443 0 0 SERPINC1 462 broad.mit.edu 37 1 173873052 173873052 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:173873052C>T ENST00000367698.3 - 7 1488 c.1370G>A c.(1369-1371)aGa>aAa p.R457K NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 457 R -> T (in AT3D; type-II). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GTTGGCTACTCTGCCCATGAA 0.398000 14 72 0 0 0.001855 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 44 0 0 0.001168 0 0 PBXIP1 57326 broad.mit.edu 37 1 154918319 154918319 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:154918319G>A ENST00000368463.3 - 10 1902 c.1831C>T c.(1831-1833)Cgg>Tgg p.R611W PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 611 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCTGTTGCCGCACTGGGGCT 0.627000 27 98 0 0 0.006320 0 0 MYH4 4622 broad.mit.edu 37 17 10358358 10358358 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:10358358C>T ENST00000255381.2 - 21 2445 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 779 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTCGCATTTCCTCTAGAGTT 0.418000 24 40 0 0 0.006320 0 0 MAP6 4135 broad.mit.edu 37 11 75319354 75319354 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:75319354C>T ENST00000434603.2 - 2 983 c.919G>A c.(919-921)Gca>Aca p.A307T MAP6_ENST00000526740.1_5'UTR|MAP6_ENST00000304771.3_Missense_Mutation_p.A307T NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 307 Calmodulin-binding (By similarity).|Mn 3. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) TCCGTCCATGCCCTGAATTCA 0.483000 16 46 0 0 0.008871 0 0 PLD2 5338 broad.mit.edu 37 17 4726006 4726006 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:4726006C>T ENST00000263088.6 + 25 2780 c.2649C>T c.(2647-2649)ccC>ccT p.P883P PLD2_ENST00000572940.1_Silent_p.P872P NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 883 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) CCGTGGAGCCCTTGGCCACGG 0.647000 40 56 0 0 0.002852 0 0 PCED1B 91523 broad.mit.edu 37 12 47629803 47629803 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:47629803G>A ENST00000546455.1 + 4 1688 c.957G>A c.(955-957)caG>caA p.Q319Q PCED1B_ENST00000432328.1_Silent_p.Q319Q PC-esterase domain containing 1B tgtccccacagcctcctcctc 0.622000 37 80 0 0 0.004289 0 0 CD163 9332 broad.mit.edu 37 12 7647853 7647853 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:7647853C>T ENST00000359156.4 - 6 1446 c.1244G>A c.(1243-1245)gGa>gAa p.G415E CD163_ENST00000432237.2_Missense_Mutation_p.G415E|CD163_ENST00000541972.1_Missense_Mutation_p.G403E|CD163_ENST00000396620.3_Missense_Mutation_p.G415E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 415 SRCR 4. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGATCCACATCCCAGCTGCCT 0.468000 28 76 0 0 0.001786 0 0 C12orf40 283461 broad.mit.edu 37 12 40114937 40114937 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:40114937G>A ENST00000324616.5 + 13 1997 c.1843G>A c.(1843-1845)Gat>Aat p.D615N NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 615 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CATACAGTGTGATCTAATTTC 0.408000 20 52 0 0 0.008871 0 0 EYA2 2139 broad.mit.edu 37 20 45633618 45633618 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:45633618G>A ENST00000327619.5 + 4 567 c.193G>A c.(193-195)Gcc>Acc p.A65T EYA2_ENST00000317304.6_Missense_Mutation_p.A65T|EYA2_ENST00000357410.3_Missense_Mutation_p.A65T NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 65 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GCCTTCCACAGCCATGGCAGC 0.577000 34 89 0 0 0.006230 0 0 SETBP1 26040 broad.mit.edu 37 18 42531222 42531222 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:42531222G>A ENST00000282030.5 + 4 2213 c.1917G>A c.(1915-1917)gaG>gaA p.E639E NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 639 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGCCGGGAGAGGACAAACCCA 0.488000 Schinzel-Giedion syndrome 20 57 0 0 0.001523 0 0 RDH10 157506 broad.mit.edu 37 8 74209456 74209456 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:74209456C>T ENST00000240285.5 + 2 995 c.317C>T c.(316-318)cCc>cTc p.P106L RDH10_ENST00000519380.1_5'UTR NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 106 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) GAAATTCTGCCCCACTGTAAC 0.507000 25 22 0 0 0.004656 0 0 RP1L1 94137 broad.mit.edu 37 8 10464745 10464745 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:10464745G>A ENST00000382483.3 - 4 7086 c.6863C>T c.(6862-6864)cCc>cTc p.P2288L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2288 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) CCTTTGGTGGGGAGTGTCTCC 0.582000 60 164 0 0 0.003610 0 0 SLC25A40 55972 broad.mit.edu 37 7 87476316 87476316 + Silent SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:87476316A>T ENST00000341119.5 - 8 925 c.579T>A c.(577-579)atT>atA p.I193I NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 193 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) TCCAAAGGGAAATCCAACCAT 0.403000 41 100 0 0 0.007835 0 0 SLC25A40 55972 broad.mit.edu 37 7 87476314 87476314 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:87476314G>A ENST00000341119.5 - 8 927 c.581C>T c.(580-582)tCc>tTc p.S194F NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 194 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) CCTCCAAAGGGAAATCCAACC 0.403000 40 93 0 0 0.006999 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885453 180885453 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:180885453G>A ENST00000367588.4 + 2 269 c.214G>A c.(214-216)Gta>Ata p.V72I NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 72 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCCTCCCAGGGTATGGGGAGT 0.602000 13 43 0 0 0.001368 0 0 RGPD4 285190 broad.mit.edu 37 2 108489210 108489210 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:108489210G>A ENST00000408999.3 + 20 4827 c.4750G>A c.(4750-4752)Gaa>Aaa p.E1584K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1584K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1584 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TAACAACAGTGAAACTAGTTC 0.368000 219 141 0 0 0.003610 0 0 SYCP1 6847 broad.mit.edu 37 1 115455695 115455695 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:115455695C>T ENST00000369522.3 + 19 1811 c.1571C>T c.(1570-1572)tCa>tTa p.S524L SYCP1_ENST00000369518.1_Missense_Mutation_p.S524L NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 524 LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) AACAAGCTTTCACTAGAAAAC 0.313000 45 136 0 0 0.003610 0 0 NUP107 57122 broad.mit.edu 37 12 69136223 69136223 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:69136223G>A ENST00000229179.4 + 28 3091 c.2759G>A c.(2758-2760)gGg>gAg p.G920E NUP107_ENST00000378905.2_Missense_Mutation_p.G681E|NUP107_ENST00000539906.1_Missense_Mutation_p.G891E NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 920 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GACCCATTAGGGTATGAAATT 0.308000 20 48 0 0 0.002299 0 0 POU6F2 11281 broad.mit.edu 37 7 39246994 39246994 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:39246994C>T ENST00000518318.2 + 4 328 c.286C>T c.(286-288)Ctt>Ttt p.L96F POU6F2_ENST00000559001.1_Missense_Mutation_p.L88F|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.L96F P78424 PO6F2_HUMAN POU class 6 homeobox 2 96 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CTTGCAGCCACTTCTGACGGC 0.532000 32 229 0 0 0.003271 0 0 MUC7 4589 broad.mit.edu 37 4 71347045 71347045 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:71347045C>T ENST00000413702.1 + 4 872 c.584C>T c.(583-585)cCt>cTt p.P195L MUC7_ENST00000456088.1_Missense_Mutation_p.P195L|MUC7_ENST00000304887.5_Missense_Mutation_p.P195L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 195 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCACCCACACCTTCTGCAACT 0.592000 31 73 0 0 0.002096 0 0 ARAP2 116984 broad.mit.edu 37 4 36069821 36069821 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:36069821C>T ENST00000303965.4 - 33 5312 c.4823G>A c.(4822-4824)aGa>aAa p.R1608K NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1608 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CATGGAAGCTCTCTCCTTTAA 0.473000 37 85 0 0 0.007835 0 0 CARD11 84433 broad.mit.edu 37 7 2946451 2946451 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:2946451C>T ENST00000396946.4 - 25 3689 c.3286G>A c.(3286-3288)Gag>Aag p.E1096K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1096 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AACTCCTCCTCCGTCTCAGGT 0.677000 Mis DLBCL 30 29 0 0 0.002096 0 0 RGAG1 57529 broad.mit.edu 37 X 109694786 109694786 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:109694786C>T ENST00000465301.2 + 3 1187 c.941C>T c.(940-942)tCt>tTt p.S314F RGAG1_ENST00000540313.1_Missense_Mutation_p.S314F NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 314 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TTAATGTCATCTCCAGGCTCT 0.493000 102 47 0 0 0.003610 0 0 C8B 732 broad.mit.edu 37 1 57395135 57395135 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:57395135G>A ENST00000543257.1 - 13 2128 c.1562C>T c.(1561-1563)cCt>cTt p.P521L C8B_ENST00000371237.4_Missense_Mutation_p.P573L|C8B_ENST00000535057.1_Missense_Mutation_p.P511L NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 573 EGF-like. 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 CCCATTTTGAGGAGGTGGATT 0.488000 21 44 0 0 0.001882 0 0 TAAR5 9038 broad.mit.edu 37 6 132910798 132910798 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:132910798C>T ENST00000258034.2 - 1 79 c.28G>A c.(28-30)Gaa>Aaa p.E10K NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 10 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGGTGCTCTTCAGCACCTTGG 0.493000 17 47 0 0 0.008871 0 0 DDX60 55601 broad.mit.edu 37 4 169227682 169227682 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:169227682C>T ENST00000393743.3 - 5 745 c.454G>A c.(454-456)Gat>Aat p.D152N NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 152 ATP binding|ATP-dependent helicase activity|RNA binding p.D152N(2) 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) GTTTGTAGATCGTTCAGGCCT 0.408000 27 53 0 0 0.004656 0 0 KCNC4 3749 broad.mit.edu 37 1 110766203 110766203 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:110766203C>T ENST00000369787.3 + 2 1323 c.1296C>T c.(1294-1296)gtC>gtT p.V432V KCNC4_ENST00000413138.3_Silent_p.V432V|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.V432V NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 432 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGCTGTGGTCACCATGACGA 0.607000 44 96 0 0 0.003214 0 0 TMC5 79838 broad.mit.edu 37 16 19475337 19475337 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:19475337C>T ENST00000396229.2 + 8 2225 c.1476C>T c.(1474-1476)ttC>ttT p.F492F TMC5_ENST00000561503.1_Silent_p.F133F|TMC5_ENST00000219821.5_Silent_p.F246F|TMC5_ENST00000564959.1_Silent_p.F175F|TMC5_ENST00000541464.1_Silent_p.F492F|TMC5_ENST00000542583.2_Silent_p.F492F|TMC5_ENST00000381414.4_Silent_p.F492F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 492 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGGAGTTTTTCACTGGGGTGG 0.512000 13 38 0 0 0.003163 0 0 GPR31 2853 broad.mit.edu 37 6 167571113 167571113 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:167571113G>A ENST00000366834.1 - 1 704 c.207C>T c.(205-207)ttC>ttT p.F69F NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 69 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGGCGGCCAGGAAAGGCAGGC 0.657000 9 22 0 0 0.006214 0 0 BCL6B 255877 broad.mit.edu 37 17 6929856 6929856 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:6929856G>A ENST00000293805.5 + 6 1062 c.970G>A c.(970-972)Gaa>Aaa p.E324K NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 324 nucleus zinc ion binding skin(1) 1 TCCTGGGGACGAAGACAAACC 0.562000 48 47 0 0 0.003610 0 0 GABRA6 2559 broad.mit.edu 37 5 161119131 161119131 + Silent SNP G G A rs144044129 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:161119131G>A ENST00000523217.1 + 8 1223 c.981G>A c.(979-981)agG>agA p.R327R GABRA6_ENST00000274545.5_Silent_p.R337R NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 337 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.R337R(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGCCAAAAGGAAGGCACAGT 0.418000 TCGA Ovarian(5;0.080) 24 18 0 0 0.003330 0 0 TPTE 7179 broad.mit.edu 37 21 10951345 10951345 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:10951345G>A ENST00000298232.7 - 9 680 c.313C>T c.(313-315)Cct>Tct p.P105S TPTE_ENST00000342420.5_Missense_Mutation_p.P85S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P123S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 123 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) TACTCCAAAGGAATATAAAGT 0.323000 24 103 0 0 0.006320 0 0 DSC3 1825 broad.mit.edu 37 18 28584168 28584168 + Missense_Mutation SNP C C T rs138482790 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:28584168C>T ENST00000434452.1 - 13 2207 c.2053G>A c.(2053-2055)Gga>Aga p.G685R DSC3_ENST00000360428.4_Missense_Mutation_p.G685R NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 685 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AGTATTACTCCTGTACTCCTT 0.373000 29 54 0 0 0.002836 0 0 HAPLN4 404037 broad.mit.edu 37 19 19371841 19371841 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:19371841C>T ENST00000291481.7 - 3 328 c.265G>A c.(265-267)Gtg>Atg p.V89M AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 89 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GGGTCCACCACCTTTGTCCAC 0.682000 24 43 0 0 0.006320 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053711 95053711 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:95053711C>T ENST00000329597.7 + 3 222 c.12C>T c.(10-12)ttC>ttT p.F4F SERPINA5_ENST00000553780.1_Silent_p.F4F|SERPINA5_ENST00000554276.1_Silent_p.F4F|SERPINA5_ENST00000554866.1_Silent_p.F4F NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 4 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TGCAGCTCTTCCTCCTCTTGT 0.587000 38 38 0 0 0.002222 0 0 STAG3 10734 broad.mit.edu 37 7 99786472 99786472 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:99786472C>T ENST00000426455.1 + 7 955 c.548C>T c.(547-549)tCc>tTc p.S183F STAG3_ENST00000317296.5_Missense_Mutation_p.S183F|STAG3_ENST00000394018.2_Missense_Mutation_p.S125F Q9UJ98 STAG3_HUMAN stromal antigen 3 183 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCAGGTCCATCCTGGAAGAAG 0.502000 37 71 0 0 0.007835 0 0 TELO2 9894 broad.mit.edu 37 16 1547053 1547053 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:1547053C>T ENST00000262319.6 + 4 909 c.630C>T c.(628-630)tcC>tcT p.S210S NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 210 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TGGATTCCTCCGTGTCCTTCG 0.617000 16 20 0 0 0.004007 0 0 ATAD3C 219293 broad.mit.edu 37 1 1391169 1391169 + Splice_Site SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:1391169A>T ENST00000378785.2 + 6 1433 c.e6-1 NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 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) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTTCCTCGGCAGCCCAGCCTG 0.637000 9 24 0 0 0.006214 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21553046 21553046 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:21553046G>A ENST00000298694.4 + 18 4051 c.3924G>A c.(3922-3924)ggG>ggA p.G1308G ARHGEF40_ENST00000298693.3_Silent_p.G1308G Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1308 PH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCCCTGAAGGGGGGTCAGAGA 0.512000 37 105 0 0 0.002222 0 0 KCNT2 343450 broad.mit.edu 37 1 196227595 196227595 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:196227595C>T ENST00000367433.5 - 25 2969 c.2868G>A c.(2866-2868)tgG>tgA p.W956* KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.W914*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.W980* Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 980 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGGTGTCTTCCCACTCTTCTA 0.388000 40 85 0 0 0.002222 0 0 OR4K14 122740 broad.mit.edu 37 14 20482649 20482649 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:20482649G>A ENST00000305045.2 - 1 703 c.704C>T c.(703-705)tCc>tTc p.S235F NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GAGTGCTTTGGATGTGCTACC 0.507000 13 15 0 0 0.001368 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111506681 111506681 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:111506681G>A ENST00000261486.5 - 19 1907 c.1631C>T c.(1630-1632)cCc>cTc p.P544L EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 544 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTGGATATCGGGGCTTCTCCT 0.333000 20 47 0 0 0.001882 0 0 OR1N2 138882 broad.mit.edu 37 9 125316096 125316096 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:125316096C>T ENST00000373688.2 + 1 706 c.648C>T c.(646-648)atC>atT p.I216I NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 AGCTGATGATCATCACCATGG 0.502000 39 54 0 0 0.008740 0 0 ALK 238 broad.mit.edu 37 2 29498286 29498286 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:29498286G>A ENST00000389048.3 - 10 2800 c.1894C>T c.(1894-1896)Ctg>Ttg p.L632L ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 632 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TAGCAGTCCAGGCTGATGGAG 0.562000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 22 13 0 0 0.001882 0 0 MYO18B 84700 broad.mit.edu 37 22 26299723 26299723 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:26299723G>A ENST00000335473.7 + 31 5323 c.5073G>A c.(5071-5073)tgG>tgA p.W1691* MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.W1692*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.W1691* NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1691 Gln-rich.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGAGGCTCTGGAAGTTGGAAT 0.552000 5 13 0 0 0.000602 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028276 45028276 + RNA SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:45028276A>C ENST00000454753.1 - 0 493 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GCTGACTGCAATGGAGGGTTT 0.522000 105 273 0 0 0.003610 0 0 FAP 2191 broad.mit.edu 37 2 163044759 163044759 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:163044759A>C ENST00000188790.4 - 20 1941 c.1734T>G c.(1732-1734)gcT>gcG p.A578A FAP_ENST00000443424.1_Silent_p.A553A NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 578 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CACCTTGGAAAGCTGTTCCTC 0.443000 77 34 0 0 0.003610 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72500919 72500919 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:72500919G>A ENST00000373208.1 + 12 1933 c.e12+1 ADAMTS14_ENST00000373207.1_Splice_Site NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCTGACGATGGTGAGTGGGCC 0.627000 8 12 0 0 0.006214 0 0 ASTN2 23245 broad.mit.edu 37 9 119202920 119202920 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:119202920G>A ENST00000313400.4 - 22 3850 c.3750C>T c.(3748-3750)ttC>ttT p.F1250F ASTN2_ENST00000341734.4_Silent_p.F302F|ASTN2_ENST00000373996.3_Silent_p.F1246F|ASTN2_ENST00000288520.5_Silent_p.F351F|ASTN2_ENST00000361477.3_Silent_p.F302F|ASTN2_ENST00000361209.2_Silent_p.F1199F O75129 ASTN2_HUMAN astrotactin 2 1250 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TTCTCCAGACGAAGTCGCCAA 0.512000 19 29 0 0 0.001523 0 0 TBC1D32 221322 broad.mit.edu 37 6 121412005 121412005 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:121412005G>A ENST00000275159.6 - 32 3770 c.3771C>T c.(3769-3771)ttC>ttT p.F1257F TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.F1216F TBC1 domain family, member 32 TTACTTTTAGGAAAACTTGCA 0.333000 31 83 0 0 0.002445 0 0 PHF1 5252 broad.mit.edu 37 6 33383373 33383373 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:33383373C>T ENST00000374512.3 + 13 1506 c.1235C>T c.(1234-1236)cCa>cTa p.P412L PHF1_ENST00000374516.3_Silent_p.P447P NM_002636.4 NP_002627.1 O43189 PHF1_HUMAN PHD finger protein 1 490 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P447P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCAGCAGCCCCATCCGGATGT 0.587000 39 116 0 0 0.002222 0 0 CLVS2 134829 broad.mit.edu 37 6 123376999 123376999 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:123376999C>T ENST00000275162.4 + 5 2059 c.724C>T c.(724-726)Cct>Tct p.P242S CLVS2_ENST00000368438.1_Missense_Mutation_p.P96S NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 242 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACTAATTCATCCTGAGATCCT 0.443000 25 67 0 0 0.008361 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602925 13602925 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:13602925C>T ENST00000040738.5 - 10 5734 c.5599G>A c.(5599-5601)Ggg>Agg p.G1867R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1867 DNA binding ACATCCTCCCCTTCCTCGTCT 0.463000 29 61 0 0 0.006320 0 0 SAMHD1 25939 broad.mit.edu 37 20 35526843 35526843 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:35526843C>T ENST00000262878.4 - 14 1807 c.1608_splice c.e14+1 p.Q536_splice NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 536 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) AAGTAGTTACCTGGTTTTTAG 0.323000 31 74 0 0 0.008361 0 0 FAR2P3 100288897 broad.mit.edu 37 2 131459903 131459903 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:131459903C>T ENST00000425151.1 + 0 430 CTGATTTCACCACAAGCAACT 0.473000 6 2 0 0 0.004482 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136952 40136952 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:40136952A>T ENST00000278198.2 - 2 2854 c.891T>A c.(889-891)caT>caA p.H297Q LRRC4C_ENST00000528697.1_Missense_Mutation_p.H297Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H297Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H297Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 297 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGTGATGTAAATGTATCCGCT 0.473000 35 71 0 0 0.004289 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132994 91132994 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:91132994G>A ENST00000373094.1 + 2 2600 c.1755G>A c.(1753-1755)agG>agA p.R585R PCDH11X_ENST00000373088.1_Silent_p.R585R|PCDH11X_ENST00000395337.2_Silent_p.R585R|PCDH11X_ENST00000406881.1_Silent_p.R585R|PCDH11X_ENST00000361724.1_Silent_p.R585R|PCDH11X_ENST00000373097.1_Silent_p.R585R|PCDH11X_ENST00000504220.1_Silent_p.R585R|PCDH11X_ENST00000298274.8_Silent_p.R585R|PCDH11X_ENST00000361655.2_Silent_p.R585R NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 585 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACCTTCCAAGGCATGGTACAG 0.393000 27 7 0 0 0.002096 0 0 DNHD1 144132 broad.mit.edu 37 11 6519925 6519925 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:6519925C>T ENST00000254579.6 + 3 1044 c.480C>T c.(478-480)ccC>ccT p.P160P DNHD1_ENST00000527990.2_Silent_p.P160P|DNHD1_ENST00000354685.3_Silent_p.P160P NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 160 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATCACAGGCCCCCATGCCCAG 0.592000 65 135 0 0 0.003610 0 0 PSG3 5671 broad.mit.edu 37 19 43243169 43243169 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:43243169G>A ENST00000327495.5 - 2 321 c.137C>T c.(136-138)tCc>tTc p.S46F PSG3_ENST00000595140.1_Missense_Mutation_p.S46F|PSG3_ENST00000490592.1_5'UTR NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 46 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CTTCCCCTTGGAAACTTTGGT 0.463000 55 147 0 0 0.003610 0 0 KERA 11081 broad.mit.edu 37 12 91449866 91449866 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:91449866C>T ENST00000266719.3 - 2 440 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 65 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GCAGGAATTTCTTTGAGACCT 0.388000 21 43 0 0 0.001523 0 0 DST 667 broad.mit.edu 37 6 56482831 56482831 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:56482831C>T ENST00000370765.6 - 23 6108 c.6001G>A c.(6001-6003)Gat>Aat p.D2001N DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1402 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.D2001Y(2) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATGCGTTATCTTGATACCTA 0.403000 39 71 0 0 0.008740 0 0 OR51B2 79345 broad.mit.edu 37 11 5344895 5344895 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5344895G>A ENST00000328813.2 - 1 687 c.633C>T c.(631-633)atC>atT p.I211I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAGAGGATGATCAGACAGT 0.388000 10 20 0 0 0.006214 0 0 DDX60 55601 broad.mit.edu 37 4 169189063 169189063 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:169189063C>T ENST00000393743.3 - 21 3149 c.2858G>A c.(2857-2859)aGa>aAa p.R953K NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 953 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) ACCCACATGTCTTTTAGAAGC 0.323000 22 47 0 0 0.001523 0 0 BMP3 651 broad.mit.edu 37 4 81966934 81966934 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:81966934C>T ENST00000282701.2 + 2 679 c.359C>T c.(358-360)tCg>tTg p.S120L NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 120 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 AATCTGACATCGCTAACCAAG 0.398000 31 55 0 0 0.004289 0 0 MUC5B 727897 broad.mit.edu 37 11 1267455 1267455 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:1267455G>A ENST00000447027.1 + 31 9412 c.9354G>A c.(9352-9354)acG>acA p.T3118T MUC5B_ENST00000529681.1_Silent_p.T3115T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3115 17 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) AGGCCACCACGACAAGGGCCA 0.622000 17 42 0 0 0.004990 0 0 KCNA1 3736 broad.mit.edu 37 12 5021486 5021486 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:5021486C>T ENST00000382545.3 + 2 2049 c.942C>T c.(940-942)atC>atT p.I314I KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 314 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCCTCCAGATCCTGGGCCAGA 0.547000 20 40 0 0 0.005443 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760567 176760567 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:176760567C>T ENST00000367662.3 + 19 6133 c.4969C>T c.(4969-4971)Ccc>Tcc p.P1657S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1657 Poly-Pro.|Sushi 5. P -> R (in dbSNP:rs34602579). 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 CCCACCACCCCCCTCAGAGCT 0.428000 22 68 0 0 0.003330 0 0 PAK7 57144 broad.mit.edu 37 20 9538374 9538374 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:9538374C>T ENST00000378429.3 - 8 2170 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K PAK7_ENST00000378423.1_Missense_Mutation_p.E542K|PAK7_ENST00000353224.5_Missense_Mutation_p.E542K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 542 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATCTGTTCTTCATTCATTCTG 0.413000 18 38 0 0 0.007413 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950843 14950843 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:14950843C>G ENST00000453695.2 - 14 1727 c.1283G>C c.(1282-1284)aGt>aCt p.S428T DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S433T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S433T|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S548T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S433T|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S428T|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.S201T NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 548 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 CCAGCCTTGACTTCCTTGTTC 0.443000 Non-homologous end-joining 27 30 0 0 0.007291 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871725 63871725 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:63871725C>T ENST00000334025.2 + 3 783 c.457C>T c.(457-459)Cga>Tga p.R153* RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 153 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane p.R153*(1) breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) TCAGTTTCATCGAAAAGGTAT 0.393000 43 25 0 0 0.003610 0 0 ABCC8 6833 broad.mit.edu 37 11 17482080 17482080 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:17482080C>T ENST00000302539.4 - 6 1091 c.966G>A c.(964-966)ggG>ggA p.G322G ABCC8_ENST00000389817.3_Silent_p.G322G NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 322 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGTCCACGATCCCAAAGATGC 0.607000 90 247 0 0 0.003610 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600318 41600318 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:41600318G>A ENST00000330436.3 + 7 1142 c.1142G>A c.(1141-1143)cGg>cAg p.R381Q NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 381 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) ACCAAGTTTCGGGATTTCTTC 0.557000 17 38 0 0 0.004990 0 0 PRKCE 5581 broad.mit.edu 37 2 46237593 46237593 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:46237593G>A ENST00000306156.3 + 10 1701 c.1374G>A c.(1372-1374)agG>agA p.R458R PRKCE_ENST00000394874.1_Silent_p.R181R NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 458 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CAGAGAAGAGGATTTTGGCTC 0.493000 60 25 0 0 0.003610 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510860 119510860 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:119510860G>A ENST00000368468.3 - 10 1956 c.1515C>T c.(1513-1515)gcC>gcT p.A505A NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 505 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GACAAGTACGGGCAATTTCAG 0.483000 46 86 0 0 0.003610 0 0 DSC1 1823 broad.mit.edu 37 18 28720107 28720107 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:28720107G>A ENST00000257197.3 - 10 1679 c.1418C>T c.(1417-1419)cCt>cTt p.P473L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P473L NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 473 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTTCACTGGAGGGTGGCATTC 0.473000 23 68 0 0 0.003954 0 0 HSF5 124535 broad.mit.edu 37 17 56557419 56557419 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:56557419G>A ENST00000323777.3 - 2 869 c.760C>T c.(760-762)Ccg>Tcg p.P254S NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 254 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACAGGAAACGGAACCCCTTTA 0.473000 52 116 0 0 0.003610 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172424 207172424 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:207172424C>G ENST00000374423.3 + 5 3558 c.3172C>G c.(3172-3174)Cta>Gta p.L1058V NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1058 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CCAACCTCAACTAGCTTTTTT 0.333000 50 28 0 0 0.003610 0 0 DPYD 1806 broad.mit.edu 37 1 98058913 98058913 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:98058913G>A ENST00000370192.3 - 10 1089 c.989C>T c.(988-990)tCg>tTg p.S330L NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 330 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TCCCCGTATCGATGGCAATGG 0.478000 32 71 0 0 0.003755 0 0 RCAN3 11123 broad.mit.edu 37 1 24861718 24861718 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:24861718C>T ENST00000374395.4 + 5 990 c.677C>T c.(676-678)cCt>cTt p.P226L RCAN3_ENST00000412742.2_Missense_Mutation_p.L169F|RCAN3_ENST00000374393.2_Missense_Mutation_p.L111F|RCAN3_ENST00000436717.2_Missense_Mutation_p.P216L|RCAN3_ENST00000538532.1_Missense_Mutation_p.P168L NM_001251978.1|NM_001251979.1|NM_001251984.1 NP_001238907.1|NP_001238908.1|NP_001238913.1 Q9UKA8 RCAN3_HUMAN RCAN family member 3 226 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2) 7 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) CGCCCCGACCCTCCGACCGCA 0.587000 15 32 0 0 0.004990 0 0 AFF4 27125 broad.mit.edu 37 5 132270167 132270167 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:132270167G>A ENST00000265343.5 - 3 969 c.590C>T c.(589-591)tCt>tTt p.S197F AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.S197F NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 197 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTCCCATGAGACCTGGAATG 0.478000 4 60 0 0 0.000248 0 0 ZG16B 124220 broad.mit.edu 37 16 2880726 2880726 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:2880726C>T ENST00000382280.3 + 3 271 c.192C>T c.(190-192)ttC>ttT p.F64F ZG16B_ENST00000572863.1_Silent_p.F34F NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 64 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 GCAAGTATTTCAGCACCACTG 0.527000 59 111 0 0 0.003610 0 0 TADA2A 6871 broad.mit.edu 37 17 35830620 35830620 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:35830620C>T ENST00000394395.2 + 13 1185 c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C TADA2A_ENST00000225396.6_Missense_Mutation_p.R338C|TADA2A_ENST00000591992.1_3'UTR NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 338 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 GCAGTGGCTCCGCCGGCAAGC 0.512000 40 86 0 0 0.008740 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213868 3213868 + RNA SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:3213868C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA TGAGCCATTTCATATCCAACG 0.542000 14 62 0 0 0.004007 0 0 UBR5 51366 broad.mit.edu 37 8 103340049 103340049 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:103340049G>A ENST00000520539.1 - 12 2008 c.1402C>T c.(1402-1404)Ctt>Ttt p.L468F UBR5_ENST00000220959.4_Missense_Mutation_p.L468F|UBR5_ENST00000521922.1_Missense_Mutation_p.L462F NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 468 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTCCTTGAAGTTCAGAGTAA 0.408000 27 49 0 0 0.008361 0 0 SEZ6 124925 broad.mit.edu 37 17 27296881 27296881 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:27296881G>A ENST00000317338.12 - 4 1376 c.948C>T c.(946-948)ttC>ttT p.F316F SEZ6_ENST00000335960.6_Silent_p.F316F|SEZ6_ENST00000442608.3_Silent_p.F316F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.F316F Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 316 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCCGCAGCAGGAAAGACTGGT 0.647000 9 24 0 0 0.004482 0 0 OR6C75 390323 broad.mit.edu 37 12 55758919 55758919 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:55758919G>A ENST00000343399.3 + 1 25 c.25G>A c.(25-27)Gac>Aac p.D9N NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 AGCAGTAACAGACTTTATTCT 0.353000 44 82 0 0 0.003610 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181159 19181159 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:19181159C>T ENST00000375371.3 - 3 826 c.805G>A c.(805-807)Gcg>Acg p.A269T RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 269 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACGACGCGCGCTGTGCTCTGC 0.622000 13 23 0 0 0.002450 0 0 DCAF5 8816 broad.mit.edu 37 14 69521511 69521511 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:69521511G>A ENST00000341516.5 - 9 2039 c.1892C>T c.(1891-1893)tCg>tTg p.S631L DCAF5_ENST00000557386.1_Missense_Mutation_p.S630L|DCAF5_ENST00000556847.1_Missense_Mutation_p.S549L|DCAF5_ENST00000554215.1_Missense_Mutation_p.S549L NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 631 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CTCAGGGGACGAGGTTGGGGA 0.493000 40 73 0 0 0.008740 0 0 GPR108 56927 broad.mit.edu 37 19 6733259 6733259 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:6733259G>A ENST00000264080.7 - 9 803 c.777C>T c.(775-777)ccC>ccT p.P259P GPR108_ENST00000430424.4_Silent_p.P17P NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 259 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GCTTGAAAAGGGGCATCTCCG 0.647000 26 46 0 0 0.008361 0 0 POU6F2 11281 broad.mit.edu 37 7 39379586 39379586 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:39379586C>T ENST00000518318.2 + 5 899 c.857C>T c.(856-858)tCa>tTa p.S286L POU6F2_ENST00000559001.1_Missense_Mutation_p.S278L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S286L P78424 PO6F2_HUMAN POU class 6 homeobox 2 286 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGCCTGCCTTCACCGCTCACG 0.617000 63 46 0 0 0.003610 0 0 IRF8 3394 broad.mit.edu 37 16 85952177 85952177 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:85952177C>T ENST00000268638.5 + 7 1178 c.756C>T c.(754-756)ttC>ttT p.F252F IRF8_ENST00000562492.1_Silent_p.F48F NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 252 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) TGGTGCGCTTCCCGCCGGCCG 0.736000 11 29 0 0 0.008291 0 0 THBS4 7060 broad.mit.edu 37 5 79372803 79372803 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:79372803C>T ENST00000350881.2 + 16 2208 c.2018C>T c.(2017-2019)cCa>cTa p.P673L THBS4_ENST00000511733.1_Missense_Mutation_p.P582L|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 673 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GATGGTATCCCAGACCTGGTG 0.567000 56 85 0 0 0.003610 0 0 SLC38A1 81539 broad.mit.edu 37 12 46598324 46598324 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:46598324G>A ENST00000398637.5 - 10 1390 c.696C>T c.(694-696)ttC>ttT p.F232F SLC38A1_ENST00000549049.1_Silent_p.F232F|SLC38A1_ENST00000439706.1_Silent_p.F232F|SLC38A1_ENST00000552197.1_Silent_p.F232F|SLC38A1_ENST00000546893.1_Silent_p.F232F|SLC38A1_ENST00000549633.1_5'UTR NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 232 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CCACAATTAGGAAAAAAACCA 0.289000 71 135 0 0 0.003610 0 0 BNIPL 149428 broad.mit.edu 37 1 151011442 151011442 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:151011442G>A ENST00000295294.7 + 4 736 c.127G>A c.(127-129)Gaa>Aaa p.E43K BNIPL_ENST00000368931.3_Missense_Mutation_p.E125K NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 125 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAGATAGACGAATTGGAGAC 0.527000 47 78 0 0 0.003610 0 0 SLC22A25 387601 broad.mit.edu 37 11 62951228 62951228 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:62951228C>T ENST00000403374.2 - 6 697 c.394G>A c.(394-396)Gaa>Aaa p.E132K SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.E298K|SLC22A10_ENST00000535888.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 298 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 TTTCTAAGTTCCTTTAAGCCC 0.498000 65 108 0 0 0.003610 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13928350 13928350 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:13928350G>A ENST00000602743.1 - 0 224 TCCAGCCAAGGACCAGACCAA 0.602000 12 10 0 0 0.004007 0 0 CNGB3 54714 broad.mit.edu 37 8 87738864 87738864 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:87738864G>A ENST00000320005.5 - 3 280 c.233C>T c.(232-234)tCc>tTc p.S78F RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 78 signal transduction|visual perception integral to membrane cGMP binding p.S78F(1) 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 ATCTCCAGAGGAATTTTTCTT 0.428000 86 203 0 0 0.003610 0 0 OR4N4 283694 broad.mit.edu 37 15 22382823 22382823 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:22382823G>A ENST00000328795.4 + 1 442 c.351G>A c.(349-351)gtG>gtA p.V117V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCCTTGTTGTGATGGCCTTTG 0.507000 17 103 0 0 0.002780 0 0 TEX264 51368 broad.mit.edu 37 3 51718650 51718650 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:51718650G>A ENST00000415259.1 + 3 1561 c.480_splice c.e3+1 p.K160_splice TEX264_ENST00000457573.1_Splice_Site_p.K160_splice|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000416589.1_Splice_Site_p.K160_splice|TEX264_ENST00000395057.1_Splice_Site_p.K160_splice|TEX264_ENST00000341333.5_Splice_Site_p.K160_splice Q9Y6I9 TX264_HUMAN testis expressed 264 160 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) CCTACATCAAGGTGAGGCACA 0.602000 5 13 0 0 0.001984 0 0 MAST1 22983 broad.mit.edu 37 19 12975890 12975890 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:12975890G>A ENST00000251472.4 + 14 1575 c.1536G>A c.(1534-1536)aaG>aaA p.K512K NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 512 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GTCACATCAAGCTCACAGATT 0.572000 21 85 0 0 0.001882 0 0 MAP3K14 9020 broad.mit.edu 37 17 43343871 43343871 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:43343871G>A ENST00000344686.2 - 0 2684 MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGCTGCCACGGGGACTGCTGA 0.607000 48 95 0 0 0.003610 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416259 57416259 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:57416259C>T ENST00000565912.1 + 2 3101 c.395C>T c.(394-396)cCc>cTc p.P132L CX3CL1_ENST00000006053.6_Missense_Mutation_p.P170L|CX3CL1_ENST00000563383.1_Missense_Mutation_p.P176L|CX3CL1_ENST00000564948.1_3'UTR P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 170 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 ACCAGGCTCCCCCCGACGCCA 0.677000 29 39 0 0 0.001786 0 0 MUC16 94025 broad.mit.edu 37 19 9065317 9065317 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:9065317C>T ENST00000397910.4 - 3 22332 c.22129G>A c.(22129-22131)Gat>Aat p.D7377N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7379 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 CGTGGCACATCCCCAGCACCT 0.507000 10 23 0 0 0.008291 0 0 HUWE1 10075 broad.mit.edu 37 X 53616539 53616539 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:53616539G>A ENST00000342160.3 - 35 4886 c.4429C>T c.(4429-4431)Cgt>Tgt p.R1477C HUWE1_ENST00000262854.6_Missense_Mutation_p.R1477C|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1477C Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1477 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATCATGTCACGATAATCTGCT 0.483000 58 42 0 0 0.003610 0 0 ELF2 1998 broad.mit.edu 37 4 139993183 139993183 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:139993183A>C ENST00000379550.1 - 5 568 c.363T>G c.(361-363)ttT>ttG p.F121L ELF2_ENST00000394235.2_Intron|ELF2_ENST00000510408.1_Intron|ELF2_ENST00000358635.3_Missense_Mutation_p.F61L|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.F61L Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 121 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) AAGGAGGAACAAACACTTCCA 0.393000 19 67 0 0 0.002299 0 0 MASP1 5648 broad.mit.edu 37 3 187003811 187003811 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:187003811G>A ENST00000337774.5 - 2 428 c.39C>T c.(37-39)tcC>tcT p.S13S MASP1_ENST00000392472.2_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_5'UTR|MASP1_ENST00000296280.6_Silent_p.S13S|MASP1_ENST00000169293.6_Silent_p.S13S NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 13 complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CCTTTGACAGGGAGAAGCACA 0.473000 17 24 0 0 0.008871 0 0 SLFN11 91607 broad.mit.edu 37 17 33679437 33679437 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:33679437G>A ENST00000394566.1 - 7 2916 c.2644C>T c.(2644-2646)Ctg>Ttg p.L882L SLFN11_ENST00000308377.4_Silent_p.L882L NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 882 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGACAGATCAGAACATTGGGT 0.463000 54 134 0 0 0.003610 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122588 43122588 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:43122588G>A ENST00000344697.2 - 2 681 c.336C>T c.(334-336)ttC>ttT p.F112F GTDC2_ENST00000441964.1_Silent_p.F112F NM_032806.4 NP_116195.2 GGGCTGGCTGGAAGCGCCGGG 0.602000 24 47 0 0 0.002299 0 0 LRP1 4035 broad.mit.edu 37 12 57591968 57591968 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:57591968C>T ENST00000243077.3 + 59 9778 c.9312C>T c.(9310-9312)ccC>ccT p.P3104P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3104 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCAGCAACCCCGATGGGCTGG 0.647000 12 13 0 0 0.001855 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756405 94756405 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:94756405C>T ENST00000554723.1 - 2 1064 c.646G>A c.(646-648)Gag>Aag p.E216K SERPINA10_ENST00000393096.1_Missense_Mutation_p.E176K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E176K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E176K Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 176 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AAGAAAGTCTCTTTGACATCA 0.453000 27 43 0 0 0.006320 0 0 ITGA2 3673 broad.mit.edu 37 5 52379186 52379186 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:52379186C>T ENST00000296585.5 + 27 3304 c.3161C>T c.(3160-3162)tCc>tTc p.S1054F NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 1054 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AGAACTGCTTCCTGTAGTAAT 0.343000 17 40 0 0 0.004007 0 0 ZMYM4 9202 broad.mit.edu 37 1 35851684 35851684 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:35851684T>C ENST00000314607.6 + 11 1810 c.1730T>C c.(1729-1731)gTt>gCt p.V577A ZMYM4_ENST00000373297.2_Intron NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 577 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTGTACAAGTTCAGTGTAAC 0.338000 38 65 0 0 0.006230 0 0 C8orf33 65265 broad.mit.edu 37 8 146278518 146278518 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:146278518C>T ENST00000331434.6 + 3 503 c.389C>T c.(388-390)cCc>cTc p.P130L NM_023080.2 NP_075568.1 Q9H7E9 CH033_HUMAN chromosome 8 open reading frame 33 130 endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) AGGCAGAAACCCACCCCGAAA 0.572000 20 56 0 0 0.008871 0 0 EXOSC10 5394 broad.mit.edu 37 1 11158200 11158200 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:11158200G>A ENST00000544779.1 - 2 130 c.125C>T c.(124-126)tCc>tTc p.S42F EXOSC10_ENST00000304457.7_Missense_Mutation_p.S42F|EXOSC10_ENST00000376936.4_Missense_Mutation_p.S42F Q01780 EXOSX_HUMAN exosome component 10 42 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TGCCACCACGGACCCAAGAGC 0.438000 18 54 0 0 0.006122 0 0 OR2A5 393046 broad.mit.edu 37 7 143747613 143747613 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143747613G>A ENST00000408906.2 + 1 153 c.119G>A c.(118-120)gGa>gAa p.G40E NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ACCCTGCTGGGAAATGGGGCC 0.512000 30 62 0 0 0.008361 0 0 PCDH19 57526 broad.mit.edu 37 X 99657804 99657804 + Missense_Mutation SNP C C A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:99657804C>A ENST00000373034.4 - 3 4009 c.2334G>T c.(2332-2334)aaG>aaT p.K778N PCDH19_ENST00000255531.7_Missense_Mutation_p.K731N|PCDH19_ENST00000420881.2_Missense_Mutation_p.K731N NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 778 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TGATTTTTTTCTTCTTGCTTG 0.463000 11 7 0.00010058 0.000120394 0.001368 1 0 RNF214 257160 broad.mit.edu 37 11 117152757 117152757 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:117152757C>T ENST00000530849.1 + 10 1028 c.1018C>T c.(1018-1020)Cag>Tag p.Q340* RNF214_ENST00000531287.1_Nonsense_Mutation_p.Q340*|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Nonsense_Mutation_p.Q495*|RNF214_ENST00000300650.4_Nonsense_Mutation_p.Q495* Q8ND24 RN214_HUMAN ring finger protein 214 495 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TGCCCTTTCCCAGCCCAGCCA 0.612000 82 60 0 0 0.003610 0 0 ENAM 10117 broad.mit.edu 37 4 71508455 71508455 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:71508455G>A ENST00000396073.3 + 9 1593 c.1312G>A c.(1312-1314)Gag>Aag p.E438K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 438 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAATCCAAAGGAGAAGCCCCT 0.443000 17 33 0 0 0.004990 0 0 PCK2 5106 broad.mit.edu 37 14 24569335 24569335 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:24569335G>A ENST00000545054.2 + 7 1663 c.745G>A c.(745-747)Gat>Aat p.D249N PCK2_ENST00000396973.4_Missense_Mutation_p.D383N|PCK2_ENST00000559250.1_Missense_Mutation_p.D395N|PCK2_ENST00000558096.1_Missense_Mutation_p.D249N|PCK2_ENST00000561286.1_Missense_Mutation_p.D249N|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.D383N Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 383 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) TGAGACCAGTGATGGTGGCGT 0.552000 21 38 0 0 0.002299 0 0 FBXO40 51725 broad.mit.edu 37 3 121340695 121340695 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:121340695C>T ENST00000338040.4 + 3 833 c.419C>T c.(418-420)tCc>tTc p.S140F NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 140 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CTCTTCAGATCCTTGAAAATG 0.493000 15 16 0 0 0.004990 0 0 GRAMD4 23151 broad.mit.edu 37 22 47058961 47058961 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:47058961C>T ENST00000406902.1 + 6 704 c.491C>T c.(490-492)tCg>tTg p.S164L GRAMD4_ENST00000361034.3_Missense_Mutation_p.S164L Q6IC98 GRAM4_HUMAN GRAM domain containing 4 164 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) GGGCTGTCCTCGCGCCTGCAG 0.672000 25 43 0 0 0.005443 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024572 16024572 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:16024572C>T ENST00000402119.3 - 12 1971 c.1545G>A c.(1543-1545)cgG>cgA p.R515R CYP4F11_ENST00000248041.7_Silent_p.R515R|CYP4F11_ENST00000326742.7_3'UTR NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 515 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.R515R(1) NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GGGGCTCCACCCGCAGCCAAA 0.607000 7 11 0 0 0.003080 0 0 AMICA1 120425 broad.mit.edu 37 11 118074226 118074226 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:118074226C>T ENST00000292067.7 - 5 1100 c.659G>A c.(658-660)gGa>gAa p.G220E AMICA1_ENST00000533261.1_Missense_Mutation_p.G219E|AMICA1_ENST00000526620.1_Missense_Mutation_p.G191E|AMICA1_ENST00000356289.5_Missense_Mutation_p.G230E NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 230 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGTGTAGTTTCCTCCATCTGA 0.517000 59 74 0 0 0.003610 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3806072 3806072 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:3806072G>A ENST00000440314.2 - 4 567 c.94C>T c.(94-96)Ccc>Tcc p.P32S EFCAB4B_ENST00000444507.1_Missense_Mutation_p.P32S|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.P32S NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 32 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) CTGTCCAGGGGATGCAGGCAG 0.612000 13 28 0 0 0.001855 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57871368 57871368 + Silent SNP G G A rs148589826 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:57871368G>A ENST00000393797.2 - 7 1035 c.843C>T c.(841-843)tgC>tgT p.C281C ARHGAP9_ENST00000393791.3_Silent_p.C210C|ARHGAP9_ENST00000356411.2_Silent_p.C210C|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Silent_p.C210C|ARHGAP9_ENST00000550288.1_Silent_p.C289C|ARHGAP9_ENST00000430041.2_Silent_p.C26C Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 210 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GCAGCAGGGGGCATGCAGGGC 0.642000 32 50 0 0 0.002445 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965114 42965114 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:42965114C>T ENST00000399770.2 + 2 590 c.590C>T c.(589-591)tCc>tTc p.S197F NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 197 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GAAGCTCCTTCCCTCCCTGTT 0.433000 122 246 0 0 0.003610 0 0 GON4L 54856 broad.mit.edu 37 1 155784200 155784200 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:155784200G>A ENST00000437809.1 - 9 1324 c.1202C>T c.(1201-1203)cCa>cTa p.P401L GON4L_ENST00000361040.5_Missense_Mutation_p.P401L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.P401L|GON4L_ENST00000271883.5_Missense_Mutation_p.P401L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 401 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGCCCCACGTGGAGATGAAGC 0.413000 32 137 0 0 0.003271 0 0 ADRB1 153 broad.mit.edu 37 10 115804217 115804217 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:115804217T>G ENST00000369295.2 + 1 412 c.326T>G c.(325-327)cTg>cGg p.L109R NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 109 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GTCATGGGGCTGCTGGTGGTG 0.652000 30 39 0 0 0.002096 0 0 MTMR3 8897 broad.mit.edu 37 22 30394825 30394825 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:30394825C>T ENST00000333027.3 + 8 864 c.536C>T c.(535-537)tCc>tTc p.S179F MTMR3_ENST00000406629.1_Missense_Mutation_p.S179F|MTMR3_ENST00000401950.2_Missense_Mutation_p.S179F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S43F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S179F NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 179 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGAGGATTTCCAACATCAAT 0.448000 12 13 0 0 0.000978 0 0 BVES 11149 broad.mit.edu 37 6 105577305 105577305 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:105577305G>A ENST00000314641.5 - 3 516 c.300C>T c.(298-300)ttC>ttT p.F100F BVES_ENST00000446408.2_Silent_p.F100F|BVES_ENST00000336775.5_Silent_p.F100F NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 100 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TGACACCCAAGAACACAGAGT 0.358000 46 74 0 0 0.003214 0 0 CD163L1 283316 broad.mit.edu 37 12 7520754 7520754 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:7520754A>C ENST00000313599.3 - 17 4169 c.4112T>G c.(4111-4113)cTt>cGt p.L1371R CD163L1_ENST00000396630.1_Missense_Mutation_p.L1371R|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1381R Q9NR16 C163B_HUMAN CD163 molecule-like 1 1371 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AACCAGGAGAAGGAGCCCAAA 0.373000 16 40 0 0 0.004990 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898837 130898837 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:130898837C>T ENST00000261655.4 - 14 2648 c.2485G>A c.(2485-2487)Gac>Aac p.D829N NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 829 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GAAAGGCGGTCTCGCCCGTAA 0.567000 36 72 0 0 0.003610 0 0 PATL1 219988 broad.mit.edu 37 11 59415331 59415331 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:59415331C>G ENST00000300146.9 - 15 1873 c.1789G>C c.(1789-1791)Gtt>Ctt p.V597L NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 597 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 ATACGGGCAACCATTCTCTTC 0.453000 8 26 0 0 0.003080 0 0 CCK 885 broad.mit.edu 37 3 42299711 42299711 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:42299711C>T ENST00000396169.2 - 5 1132 c.227G>A c.(226-228)cGa>cAa p.R76Q CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q NM_000729.4 NP_000720.1 P06307 CCKN_HUMAN cholecystokinin 76 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity p.R76Q(1) central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) GATGGACATTCGTCCAGAAGG 0.517000 30 56 0 0 0.006230 0 0 ITGA11 22801 broad.mit.edu 37 15 68608005 68608005 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:68608005C>T ENST00000423218.2 - 22 2871 c.2776G>A c.(2776-2778)Gag>Aag p.E926K ITGA11_ENST00000315757.7_Missense_Mutation_p.E926K Q9UKX5 ITA11_HUMAN integrin, alpha 11 926 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GCAGCGAGCTCGATCTCCAGG 0.587000 4 20 0 0 0.001984 0 0 MUC6 4588 broad.mit.edu 37 11 1027319 1027319 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:1027319C>T ENST00000421673.2 - 17 2230 c.2180G>A c.(2179-2181)gGt>gAt p.G727D NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 727 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAACTTGTAACCCTCCAGTAT 0.662000 76 144 0 0 0.003610 0 0 SLC10A1 6554 broad.mit.edu 37 14 70252859 70252859 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:70252859G>A ENST00000216540.4 - 2 655 c.522C>T c.(520-522)atC>atT p.I174I NM_003049.3 NP_003040.1 Q14973 NTCP_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 1 174 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) ATTTGAGGACGATCCCTATGG 0.473000 47 74 0 0 0.003610 0 0 TTC22 55001 broad.mit.edu 37 1 55266437 55266437 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:55266437C>T ENST00000371276.4 - 1 503 c.400G>A c.(400-402)Gag>Aag p.E134K TTC22_ENST00000371274.4_Missense_Mutation_p.E134K NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 134 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 TCGGGCTCCTCTGCCAGGCCC 0.731000 3 6 0 0 0.004672 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36226075 36226075 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:36226075G>A ENST00000258840.6 - 7 977 c.587C>T c.(586-588)cCa>cTa p.P196L RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P196L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P196L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P196L|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 196 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCCTGATTGTGGGGGGACAAG 0.318000 24 65 0 0 0.002096 0 0 OR5B17 219965 broad.mit.edu 37 11 58125748 58125748 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:58125748G>A ENST00000357377.3 - 1 794 c.795C>T c.(793-795)tcC>tcT p.S265S NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTGTGTCCATGGAATGACTGG 0.403000 26 53 0 0 0.003330 0 0 DCHS2 54798 broad.mit.edu 37 4 155155886 155155886 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:155155886C>T ENST00000357232.3 - 25 8552 c.8553G>A c.(8551-8553)ccG>ccA p.P2851P NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2851 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTGGGTGTTTCGGAGGCACCT 0.527000 45 94 0 0 0.002522 0 0 HPN 3249 broad.mit.edu 37 19 35551285 35551285 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:35551285C>T ENST00000262626.2 + 8 1314 c.489C>T c.(487-489)atC>atT p.I163I HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Silent_p.I163I NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 163 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) TGGACCGCATCGTGGGAGGCC 0.692000 24 43 0 0 0.004656 0 0 SACS 26278 broad.mit.edu 37 13 23914341 23914341 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:23914341A>G ENST00000382298.3 - 10 4262 c.3674T>C c.(3673-3675)tTa>tCa p.L1225S SACS_ENST00000402364.1_Missense_Mutation_p.L475S|SACS_ENST00000382292.3_Missense_Mutation_p.L1225S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1225 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) aaagtgttttaagacagcact 0.358000 6 7 0 0 0.001168 0 0 TRAJ18 28737 broad.mit.edu 37 14 22994658 22994658 + RNA SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:22994658A>C ENST00000390519.1 + 0 39 ATACTTTGGAAGAGGAACTCA 0.488000 24 78 0 0 0.005443 0 0 ZNF511 118472 broad.mit.edu 37 10 135122932 135122932 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:135122932G>A ENST00000359035.3 + 2 195 c.192G>A c.(190-192)gtG>gtA p.V64V ZNF511_ENST00000368554.4_5'UTR|ZNF511_ENST00000361518.5_Silent_p.V64V Q8NB15 ZN511_HUMAN zinc finger protein 511 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) TCCAGGACGTGATCATGCAGG 0.682000 7 7 0 0 0.006214 0 0 SHKBP1 92799 broad.mit.edu 37 19 41096235 41096235 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:41096235C>T ENST00000291842.5 + 16 1724 c.1675C>T c.(1675-1677)Cgg>Tgg p.R559W SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.R534W NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 559 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTCGGCTCTCGGCCCCGGCG 0.711000 5 16 0 0 0.001168 0 0 MSR1 4481 broad.mit.edu 37 8 16012593 16012593 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:16012593C>T ENST00000350896.3 - 6 1075 c.878G>A c.(877-879)cGa>cAa p.R293Q MSR1_ENST00000355282.2_Missense_Mutation_p.R293Q|MSR1_ENST00000445506.2_Missense_Mutation_p.R311Q|MSR1_ENST00000262101.5_Missense_Mutation_p.R293Q|MSR1_ENST00000381998.4_Missense_Mutation_p.R293Q|MSR1_ENST00000536385.1_Missense_Mutation_p.R67Q NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 293 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TGGAAATCCTCGTGGACCACT 0.418000 9 43 0 0 0.006214 0 0 PADI3 51702 broad.mit.edu 37 1 17588688 17588688 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:17588688C>T ENST00000375460.3 + 3 374 c.334C>T c.(334-336)Ctc>Ttc p.L112F NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 112 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGTGCTCTACCTCACCTGTGT 0.498000 6 21 0 0 0.001984 0 0 WBSCR17 64409 broad.mit.edu 37 7 70886084 70886084 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:70886084C>T ENST00000333538.5 + 5 1589 c.955C>T c.(955-957)Ccc>Tcc p.P319S WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 319 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCCTTCTCTCCCCATCAGGTC 0.612000 15 20 0 0 0.004007 0 0 DSG3 1830 broad.mit.edu 37 18 29055672 29055672 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:29055672G>A ENST00000257189.4 + 16 2532 c.2449G>A c.(2449-2451)Gat>Aat p.D817N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 817 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTTGATCTATGATAATGAAGG 0.458000 39 46 0 0 0.002522 0 0 SPTA1 6708 broad.mit.edu 37 1 158627344 158627344 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:158627344C>T ENST00000368148.3 - 19 2908 c.2728G>A c.(2728-2730)Gaa>Aaa p.E910K SPTA1_ENST00000368147.3_Missense_Mutation_p.E910K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 910 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) GTTTCTGCTTCATGCAGGTCA 0.473000 106 158 0 0 0.003610 0 0 WNT3A 89780 broad.mit.edu 37 1 228210554 228210554 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:228210554G>A ENST00000284523.1 + 2 336 c.258G>A c.(256-258)tgG>tgA p.W86* WNT3A_ENST00000366753.2_Nonsense_Mutation_p.W86* NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 86 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCCGCCGGTGGAACTGCACCA 0.642000 30 57 0 0 0.008361 0 0 NRAS 4893 broad.mit.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C T rs121913237 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:115258747C>T ENST00000369535.4 - 2 288 c.35G>A c.(34-36)gGt>gAt p.G12D NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 12 G -> C (in leukemia). 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.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(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) CCCAACACCACCTGCTCCAAC 0.493000 G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 63 65 0 0 0.003610 0 0 GATA3 2625 broad.mit.edu 37 10 8115874 8115874 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:8115874C>T ENST00000379328.3 + 6 1791 c.1223C>T c.(1222-1224)tCg>tTg p.S408L GATA3_ENST00000346208.3_Missense_Mutation_p.S407L|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 407 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.P409fs*>37(5) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 AGCCACATCTCGCCCTTCAGC 0.602000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 25 23 0 0 0.003330 0 0 GSDMA 284110 broad.mit.edu 37 17 38122529 38122529 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:38122529G>A ENST00000301659.4 + 3 349 c.231G>A c.(229-231)ggG>ggA p.G77G NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 77 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CAGACACTGGGAATTTTGGCT 0.537000 26 42 0 0 0.005443 0 0 LRP4 4038 broad.mit.edu 37 11 46917529 46917529 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:46917529A>C ENST00000378623.1 - 10 1331 c.1089T>G c.(1087-1089)ggT>ggG p.G363G NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 363 EGF-like 1; calcium-binding (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GGGCACAGCCACCGTTGTTAA 0.622000 16 66 0 0 0.006122 0 0 KLHL36 79786 broad.mit.edu 37 16 84690709 84690709 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:84690709C>T ENST00000564996.1 + 3 437 c.296C>T c.(295-297)gCc>gTc p.A99V KLHL36_ENST00000258157.5_Missense_Mutation_p.A99V NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 99 BTB. endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GGGCTCAAGGCCGTGGTGGAC 0.597000 9 24 0 0 0.006214 0 0 ERG 2078 broad.mit.edu 37 21 39774513 39774513 + Missense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:39774513T>A ENST00000442448.1 - 7 931 c.660A>T c.(658-660)caA>caT p.Q220H ERG_ENST00000398919.2_Missense_Mutation_p.Q220H|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Missense_Mutation_p.Q220H|ERG_ENST00000398907.1_Missense_Mutation_p.Q213H|ERG_ENST00000398905.1_Missense_Mutation_p.Q213H|ERG_ENST00000288319.7_Missense_Mutation_p.Q213H|ERG_ENST00000398910.1_Missense_Mutation_p.Q220H|ERG_ENST00000453032.2_Missense_Mutation_p.Q121H|ERG_ENST00000417133.2_Missense_Mutation_p.Q220H|ERG_ENST00000398897.1_Missense_Mutation_p.Q121H NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 220 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) GTGGAGAGTTTTGTAAGGCTT 0.438000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 18 47 0 0 0.007413 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834401 125834401 + Silent SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:125834401T>G ENST00000299308.3 + 2 464 c.456T>G c.(454-456)ctT>ctG p.L152L TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 152 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACAGTGACCTTACGGAAGATC 0.542000 42 103 0 0 0.002222 0 0 UNC79 57578 broad.mit.edu 37 14 94158208 94158208 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:94158208C>T ENST00000553484.1 + 48 7723 c.7569C>T c.(7567-7569)ttC>ttT p.F2523F UNC79_ENST00000393151.2_Silent_p.F2501F|UNC79_ENST00000256339.4_Silent_p.F2324F|UNC79_ENST00000555664.1_Silent_p.F2462F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2501 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGAATGAATTCAGCTTCACGG 0.478000 48 44 0 0 0.003610 0 0 SLC22A2 6582 broad.mit.edu 37 6 160638496 160638496 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:160638496G>A ENST00000366953.3 - 11 1894 c.1636C>T c.(1636-1638)Caa>Taa p.Q546* SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 546 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TTCTGAACTTGGAGGTAAATC 0.373000 6 26 0 0 0.004482 0 0 NPY4R 5540 broad.mit.edu 37 10 47087321 47087321 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:47087321C>T ENST00000374312.1 + 3 957 c.538C>T c.(538-540)Ctg>Ttg p.L180L NPY4R_ENST00000395716.1_Silent_p.L180L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CAACAGCATCCTGGAGAATGT 0.582000 17 25 0 0 0.006122 0 0 MEP1A 4224 broad.mit.edu 37 6 46803191 46803191 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:46803191C>T ENST00000230588.4 + 13 1998 c.1989C>T c.(1987-1989)gaC>gaT p.D663D NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 663 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CCCTGGAGGACCATAACTGGC 0.597000 7 16 0 0 0.003080 0 0 API5 8539 broad.mit.edu 37 11 43348116 43348116 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:43348116C>T ENST00000378852.3 + 7 935 c.810C>T c.(808-810)ctC>ctT p.L270L API5_ENST00000455725.2_Silent_p.L259L|API5_ENST00000531273.1_Silent_p.L270L|API5_ENST00000534600.1_Silent_p.L270L|API5_ENST00000420461.2_Silent_p.L216L|API5_ENST00000534695.1_Intron NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 270 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 TCCCTAACCTCGGTACCTTGA 0.368000 55 158 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139164952 139164952 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:139164952C>T ENST00000395297.1 - 13 1936 c.1766G>A c.(1765-1767)aGg>aAg p.R589K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 589 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAGCCCAGTCCTGTCTAATCC 0.448000 HNSCC(54;0.14) 29 109 0 0 0.002445 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327161 150327161 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150327161G>A ENST00000328902.5 - 2 286 c.70C>T c.(70-72)Ctg>Ttg p.L24L GIMAP6_ENST00000493969.1_Silent_p.L24L NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 24 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACAGCTCCAGCACAGGATCC 0.458000 55 149 0 0 0.003610 0 0 EPB41L2 2037 broad.mit.edu 37 6 131225613 131225613 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:131225613A>T ENST00000337057.3 - 6 1102 c.921T>A c.(919-921)gaT>gaA p.D307E EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307E|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307E|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307E|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307E|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307E NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 307 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ACCTGGTGATATCTTCAGTCA 0.353000 32 61 0 0 0.002836 0 0 KIF14 9928 broad.mit.edu 37 1 200555350 200555350 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:200555350T>C ENST00000367350.4 - 19 3558 c.3120A>G c.(3118-3120)ttA>ttG p.L1040L NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1040 Required for CIT-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 TATGGTCTTCTAAAGCCTAAT 0.348000 42 159 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179590143 179590143 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179590143T>G ENST00000589042.1 - 71 21012 c.20788A>C c.(20788-20790)Aag>Cag p.K6930Q TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K6613Q|TTN_ENST00000342992.6_Missense_Mutation_p.K5686Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6613 Ig-like 51. 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) CCATCATTCTTGATTTGGCAG 0.413000 15 7 0 0 0.007413 0 0 DIAPH3 81624 broad.mit.edu 37 13 60453532 60453532 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:60453532A>C ENST00000400324.4 - 21 2658 c.2438T>G c.(2437-2439)gTg>gGg p.V813G DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V813G|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V813G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V802G|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V743G|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V767G NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 813 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GATGTTGTTCACCTGCTCTTC 0.423000 16 19 0 0 0.003163 0 0 TCHH 7062 broad.mit.edu 37 1 152086520 152086520 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152086520C>T ENST00000368804.1 - 1 36 c.37G>A c.(37-39)Gaa>Aaa p.E13K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 13 S-100-like. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGAAAATTTCAGTGATGTCA 0.363000 15 65 0 0 0.002450 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146722 156146722 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:156146722G>A ENST00000368285.3 + 15 2487 c.2220G>A c.(2218-2220)aaG>aaA p.K740K SEMA4A_ENST00000368282.1_Silent_p.K740K|SEMA4A_ENST00000368286.2_Silent_p.K608K|SEMA4A_ENST00000355014.2_Silent_p.K740K|SEMA4A_ENST00000368284.1_Silent_p.K608K NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 740 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) AGTCTCCCAAGGAATGCAGGA 0.617000 28 57 0 0 0.002096 0 0 ATG12 9140 broad.mit.edu 37 5 115173368 115173368 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:115173368T>C ENST00000509910.1 - 2 562 c.257A>G c.(256-258)gAc>gGc p.D86G ATG12_ENST00000274459.4_Missense_Mutation_p.D133G|ATG12_ENST00000509598.1_5'UTR|ATG12_ENST00000500945.2_Intron O94817 ATG12_HUMAN autophagy related 12 86 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) TTTGATGAAGTCAATGAGTCC 0.398000 34 19 0 0 0.004289 0 0 NOS1 4842 broad.mit.edu 37 12 117768797 117768797 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:117768797C>T ENST00000317775.6 - 2 763 c.78G>A c.(76-78)ggG>ggA p.G26G NOS1_ENST00000344089.3_Silent_p.G26G|NOS1_ENST00000338101.4_Silent_p.G26G NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 26 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATCCCAGGCCCCCAACTTTGC 0.567000 21 59 0 0 0.001882 0 0 SHKBP1 92799 broad.mit.edu 37 19 41095040 41095040 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:41095040C>T ENST00000291842.5 + 15 1594 c.1545C>T c.(1543-1545)ccC>ccT p.P515P SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Silent_p.P490P NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 515 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGTGGTGCCCAGTGCCAGCC 0.647000 13 25 0 0 0.001855 0 0 SYCP1 6847 broad.mit.edu 37 1 115453082 115453082 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:115453082G>A ENST00000369522.3 + 17 1625 c.1385G>A c.(1384-1386)gGa>gAa p.G462E SYCP1_ENST00000369518.1_Missense_Mutation_p.G462E NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 462 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) GAATTAAAAGGAACAGAACAA 0.279000 52 62 0 0 0.003610 0 0 NUTM1 256646 broad.mit.edu 37 15 34647840 34647840 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:34647840G>A ENST00000537011.1 + 8 2013 c.1631G>A c.(1630-1632)gGg>gAg p.G544E NUTM1_ENST00000333756.4_Missense_Mutation_p.G516E|NUTM1_ENST00000438749.3_Missense_Mutation_p.G534E NUT midline carcinoma, family member 1 GGGCTTCAGGGGGCTGGGGGC 0.592000 48 79 0 0 0.003610 0 0 AQP12A 375318 broad.mit.edu 37 2 241631577 241631577 + Silent SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:241631577G>C ENST00000429564.1 + 2 309 c.246G>C c.(244-246)gcG>gcC p.A82A AQP12A_ENST00000337801.4_Silent_p.A70A Q8IXF9 AQ12A_HUMAN aquaporin 12A 70 integral to membrane transporter activity p.A70A(1) endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TCTTCCTGGCGCACGGGGTCA 0.667000 4 52 0 0 0.008291 0 0 PCF11 51585 broad.mit.edu 37 11 82877030 82877030 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:82877030C>T ENST00000298281.4 + 5 1543 c.1091C>T c.(1090-1092)tCg>tTg p.S364L NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 364 Lys-rich. 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 GATTCTAAATCGAAATCGAAA 0.313000 15 25 0 0 0.004007 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651197 84651197 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:84651197C>T ENST00000286744.5 + 21 3041 c.2817C>T c.(2815-2817)ttC>ttT p.F939F ADAMTSL3_ENST00000567476.1_Silent_p.F939F NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 939 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGCGACGATTCCAGAAATCTC 0.498000 42 70 0 0 0.002522 0 0 NLRP7 199713 broad.mit.edu 37 19 55451188 55451188 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:55451188G>A ENST00000446217.1 - 6 1485 c.1083C>T c.(1081-1083)ttC>ttT p.F361F NLRP7_ENST00000448121.2_Silent_p.F333F|NLRP7_ENST00000328092.5_Silent_p.F333F|NLRP7_ENST00000340844.2_Silent_p.F333F|NLRP7_ENST00000592784.1_Silent_p.F333F|NLRP7_ENST00000590030.1_Silent_p.F333F|NLRP7_ENST00000588756.1_Silent_p.F333F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 333 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGTGTCTCAGGAAATAGGCCC 0.647000 20 31 0 0 0.002780 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651534 8651534 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:8651534G>A ENST00000270328.4 - 19 2577 c.2311C>T c.(2311-2313)Cta>Tta p.L771L ADAMTS10_ENST00000597188.1_Silent_p.L771L|ADAMTS10_ENST00000595838.1_Silent_p.L258L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 771 Spacer. 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 GTCCCAGCTAGAGGCAGACGG 0.622000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 89 0 0 0.006230 0 0 BRINP3 339479 broad.mit.edu 37 1 190130018 190130018 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:190130018C>T ENST00000367462.3 - 7 1195 c.964G>A c.(964-966)Gaa>Aaa p.E322K FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E220K NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 322 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AACTTGAATTCATCTGAAAAA 0.274000 59 72 0 0 0.003610 0 0 RGS7 6000 broad.mit.edu 37 1 241262011 241262011 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:241262011G>A ENST00000366565.1 - 3 511 c.130C>T c.(130-132)Cgt>Tgt p.R44C RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 44 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.R44S(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTGACCGTACGAATAGGAATT 0.358000 11 73 0 0 0.001368 0 0 CCDC24 149473 broad.mit.edu 37 1 44459601 44459601 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:44459601C>T ENST00000372318.3 + 5 633 c.462C>T c.(460-462)aaC>aaT p.N154N SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 154 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ACCAACTGAACGTGTCCAACA 0.567000 20 33 0 0 0.001882 0 0 RPTN 126638 broad.mit.edu 37 1 152129231 152129231 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152129231C>T ENST00000316073.3 - 3 408 c.344G>A c.(343-345)gGa>gAa p.G115E NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 115 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 GCCTGTGTTTCCTGGGAACTT 0.527000 137 210 0 0 0.003610 0 0 OR10X1 128367 broad.mit.edu 37 1 158549127 158549127 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:158549127T>C ENST00000368150.1 - 1 562 c.563A>G c.(562-564)aAc>aGc p.N188S NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TTTGACAAGGTTGGGTCTGCA 0.433000 31 56 0 0 0.002445 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649204 75649204 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:75649204C>T ENST00000361470.2 + 1 1159 c.881C>T c.(880-882)aCc>aTc p.T294I NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 294 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GGATCAAGCACCTCCGTGCCC 0.706000 6 6 0 0 0.001168 0 0 TG 7038 broad.mit.edu 37 8 133941344 133941344 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:133941344C>G ENST00000220616.4 + 23 4763 c.4723C>G c.(4723-4725)Cca>Gca p.P1575A TG_ENST00000542445.1_Missense_Mutation_p.P9A|TG_ENST00000377869.1_Missense_Mutation_p.P1518A NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1575 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) TGAGAAGGTTCCAGAATCAAA 0.453000 30 41 0 0 0.001786 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140671 143140671 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:143140671G>A ENST00000332690.1 + 1 126 c.126G>A c.(124-126)ctG>ctA p.L42L EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 42 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CTGCTGCTCTGGGCGTGGAGT 0.498000 34 94 0 0 0.003755 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144061193 144061193 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:144061193G>A ENST00000056217.5 + 2 1605 c.1431G>A c.(1429-1431)aaG>aaA p.K477K NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 477 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CACCTGACAAGGAAATAGATC 0.547000 11 54 0 0 0.004990 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011573 46011573 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:46011573G>A ENST00000400368.1 - 1 813 c.793C>T c.(793-795)Ccc>Tcc p.P265S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 265 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 TGCTGGCAGGGGGAGGAGGTG 0.647000 36 77 0 0 0.003271 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55315353 55315353 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:55315353C>T ENST00000396284.2 + 2 42 c.42C>T c.(40-42)ttC>ttT p.F14F KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Silent_p.F16F|KIR2DL4_ENST00000396293.1_Silent_p.F16F|KIR2DL4_ENST00000357494.4_Silent_p.F16F|KIR2DL4_ENST00000359085.4_Silent_p.F16F|KIR2DL4_ENST00000345540.5_Silent_p.F16F|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CAGGGTTCTTCTTGGACCAGA 0.502000 56 28 0 0 0.003610 0 0 GALNT12 79695 broad.mit.edu 37 9 101585540 101585540 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:101585540G>A ENST00000375011.3 + 2 374 c.374G>A c.(373-375)tGc>tAc p.C125Y NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 125 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) ATTTGCAGGTGCAAAGAGAAG 0.463000 24 20 0 0 0.008361 0 0 RARRES2 5919 broad.mit.edu 37 7 150036168 150036168 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:150036168C>T ENST00000466675.1 - 3 1315 c.282G>A c.(280-282)agG>agA p.R94R RARRES2_ENST00000223271.3_Silent_p.R94R|RARRES2_ENST00000482669.1_Silent_p.R94R Q99969 RARR2_HUMAN retinoic acid receptor responder (tazarotene induced) 2 94 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) ATTTCCGTTTCCTCTGTGGGG 0.607000 35 55 0 0 0.002836 0 0 CACNA1B 774 broad.mit.edu 37 9 140809221 140809221 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:140809221G>A ENST00000371372.1 + 5 883 c.738G>A c.(736-738)atG>atA p.M246I CACNA1B_ENST00000371363.1_Missense_Mutation_p.M246I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M246I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M246I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M246I NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 246 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) AGTTCTACATGGGCAAGTTCC 0.552000 10 8 0 0 0.000978 0 0 PTPRD 5789 broad.mit.edu 37 9 8636727 8636727 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:8636727C>T ENST00000381196.4 - 10 725 c.182G>A c.(181-183)gGa>gAa p.G61E PTPRD_ENST00000397611.3_Missense_Mutation_p.G61E|PTPRD_ENST00000397617.3_Missense_Mutation_p.G61E|PTPRD_ENST00000397606.3_Missense_Mutation_p.G61E|PTPRD_ENST00000540109.1_Missense_Mutation_p.G61E|PTPRD_ENST00000537002.1_Missense_Mutation_p.G61E|PTPRD_ENST00000360074.4_Missense_Mutation_p.G61E|PTPRD_ENST00000486161.1_Missense_Mutation_p.G61E|PTPRD_ENST00000356435.5_Missense_Mutation_p.G61E|PTPRD_ENST00000355233.5_Missense_Mutation_p.G61E|PTPRD_ENST00000463477.1_Missense_Mutation_p.G61E|PTPRD_ENST00000358503.5_Missense_Mutation_p.G61E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 61 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G61E(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GACTTTCTTTCCTTTTTTGTT 0.458000 TSP Lung(15;0.13) 25 57 0 0 0.004656 0 0 ADAP2 55803 broad.mit.edu 37 17 29280360 29280360 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:29280360G>A ENST00000330889.3 + 8 1131 c.796G>A c.(796-798)Ggg>Agg p.G266R ADAP2_ENST00000580525.1_Missense_Mutation_p.G272R NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 266 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GGAAAAGACTGGGCCAAAGGT 0.468000 9 16 0 0 0.008291 0 0 BMS1 9790 broad.mit.edu 37 10 43318679 43318679 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:43318679C>T ENST00000374518.4 + 20 3309 c.3246C>T c.(3244-3246)ttC>ttT p.F1082F NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1082 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAGGAGCTTTCAGGGCCAGCT 0.512000 25 22 0 0 0.003330 0 0 SCN5A 6331 broad.mit.edu 37 3 38627507 38627507 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38627507G>A ENST00000413689.1 - 16 2655 c.2462C>T c.(2461-2463)tCa>tTa p.S821L SCN5A_ENST00000451551.2_Missense_Mutation_p.S821L|SCN5A_ENST00000414099.2_Missense_Mutation_p.S821L|SCN5A_ENST00000333535.4_Missense_Mutation_p.S821L|SCN5A_ENST00000425664.1_Missense_Mutation_p.S821L|SCN5A_ENST00000423572.2_Missense_Mutation_p.S821L|SCN5A_ENST00000450102.2_Missense_Mutation_p.S821L|SCN5A_ENST00000449557.2_Missense_Mutation_p.S821L|SCN5A_ENST00000443581.1_Missense_Mutation_p.S821L|SCN5A_ENST00000455624.2_Missense_Mutation_p.S821L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 821 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGTGGGCCATGATTTGGCCAG 0.582000 15 28 0 0 0.003163 0 0 CABIN1 23523 broad.mit.edu 37 22 24439440 24439440 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:24439440C>T ENST00000398319.2 + 6 805 c.420C>T c.(418-420)atC>atT p.I140I CABIN1_ENST00000405822.2_Silent_p.I140I|CABIN1_ENST00000263119.5_Silent_p.I140I NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 140 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TCATCCGGATCCCCCTGGCTC 0.547000 27 57 0 0 0.005443 0 0 SEMA3E 9723 broad.mit.edu 37 7 83021940 83021940 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:83021940C>T ENST00000307792.3 - 14 2065 c.1598G>A c.(1597-1599)cGa>cAa p.R533Q SEMA3E_ENST00000427262.1_Missense_Mutation_p.R473Q NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 533 axon guidance extracellular space|membrane receptor activity p.R533Q(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GTAAGGGTCTCGAGCCAGGCA 0.498000 22 47 0 0 0.001882 0 0 F11 2160 broad.mit.edu 37 4 187197030 187197030 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:187197030C>T ENST00000264692.4 + 6 752 c.419C>T c.(418-420)tCc>tTc p.S140F F11_ENST00000403665.2_Missense_Mutation_p.S192F P03951 FA11_HUMAN coagulation factor XI 192 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TCACTGAAATCCTGTGCACTT 0.383000 3 7 0 0 0.000248 0 0 EPHA7 2045 broad.mit.edu 37 6 93967959 93967959 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:93967959C>T ENST00000369303.4 - 11 2152 c.1968G>A c.(1966-1968)ggG>ggA p.G656G NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 656 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) CATCTCTTTTCCCTGGAAGTT 0.388000 43 127 0 0 0.003214 0 0 SCN5A 6331 broad.mit.edu 37 3 38592926 38592926 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38592926A>C ENST00000413689.1 - 28 5130 c.4937T>G c.(4936-4938)cTg>cGg p.L1646R SCN5A_ENST00000451551.2_Missense_Mutation_p.L1592R|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1628R|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1646R|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1628R|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1645R|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1592R|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1592R|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1645R|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1613R NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1646 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCAAAGAGCAGCGTGCGGAT 0.582000 31 86 0 0 0.002836 0 0 SLC19A1 6573 broad.mit.edu 37 21 46936041 46936041 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:46936041G>A ENST00000311124.4 - 6 1459 c.1307C>T c.(1306-1308)tCc>tTc p.S436F SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S396F NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 436 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GAAGTACACGGAGTATAACTG 0.672000 13 23 0 0 0.002450 0 0 ATR 545 broad.mit.edu 37 3 142274762 142274762 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:142274762G>A ENST00000350721.4 - 10 2419 c.2298C>T c.(2296-2298)ttC>ttT p.F766F ATR_ENST00000383101.3_Silent_p.F702F NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 766 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 GTAGGAAAAGGAATGGCTTGC 0.358000 Other conserved DNA damage response genes 32 25 0 0 0.004289 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737326 62737326 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:62737326C>T ENST00000369768.1 - 1 1198 c.859G>A c.(859-861)Gac>Aac p.D287N NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 287 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) TGGGGCAGGTCCGTGGTCAGG 0.637000 17 39 0 0 0.001523 0 0 TNR 7143 broad.mit.edu 37 1 175362936 175362936 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:175362936C>T ENST00000367674.1 - 6 2044 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K TNR_ENST00000263525.2_Missense_Mutation_p.E446K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 446 Fibronectin type-III 2. 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) AAGCTGATTTCCCACCCATCG 0.473000 110 196 0 0 0.003610 0 0 CCNB3 85417 broad.mit.edu 37 X 50052110 50052110 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chrX:50052110C>T ENST00000376042.1 + 6 1239 c.941C>T c.(940-942)tCc>tTc p.S314F CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S314F|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 314 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GGAGCAATGTCCTCCATTAAG 0.413000 51 27 0 0 0.003610 0 0 BNC1 646 broad.mit.edu 37 15 83932172 83932172 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:83932172G>A ENST00000345382.2 - 4 1916 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R604C NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 611 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R611C(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ACTGATTCACGATGGCAGGGC 0.547000 29 61 0 0 0.002836 0 0 HIVEP1 3096 broad.mit.edu 37 6 12121894 12121894 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:12121894C>T ENST00000379388.2 + 4 2198 c.1866C>T c.(1864-1866)tcC>tcT p.S622S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 622 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ATGAGAATTCCCACCAGAAAG 0.522000 49 84 0 0 0.003610 0 0 PPEF2 5470 broad.mit.edu 37 4 76794405 76794405 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:76794405G>A ENST00000286719.7 - 12 1737 c.1381C>T c.(1381-1383)Cga>Tga p.R461* NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 461 Catalytic. 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) CCTCCTCCTCGAATAGTGTTG 0.453000 30 65 0 0 0.002096 0 0 FAM135B 51059 broad.mit.edu 37 8 139164922 139164922 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:139164922C>T ENST00000395297.1 - 13 1966 c.1796G>A c.(1795-1797)gGa>gAa p.G599E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 599 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTGGTGGCTTCCACCTACTAC 0.468000 HNSCC(54;0.14) 30 114 0 0 0.004289 0 0 KCNC4 3749 broad.mit.edu 37 1 110774872 110774872 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:110774872C>T ENST00000369787.3 + 4 1876 c.1849C>T c.(1849-1851)Cag>Tag p.Q617* KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Intron NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 617 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CCTTCCCCTTCAGCATTCACC 0.557000 13 23 0 0 0.004990 0 0 ITGAM 3684 broad.mit.edu 37 16 31336715 31336715 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:31336715C>T ENST00000544665.3 + 20 2569 c.2498C>T c.(2497-2499)tCc>tTc p.S833F ITGAM_ENST00000287497.8_Missense_Mutation_p.S832F NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 832 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CGGAAGGTGTCCACGCTCCAG 0.562000 13 51 0 0 0.004007 0 0 ROBO1 6091 broad.mit.edu 37 3 78710396 78710396 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:78710396G>A ENST00000436010.2 - 14 2984 c.1987C>T c.(1987-1989)Cag>Tag p.Q663* ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q702*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q666*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q666* Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 702 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGTATATACTGAGACTGTTGA 0.323000 7 12 0 0 0.001984 0 0 PRMT8 56341 broad.mit.edu 37 12 3678727 3678727 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:3678727C>T ENST00000382622.3 + 6 1099 c.709C>T c.(709-711)Cac>Tac p.H237Y PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.H228Y NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 237 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTTCAAAATCCACTGTAAGTC 0.522000 31 59 0 0 0.001786 0 0 LILRA3 11026 broad.mit.edu 37 19 54802566 54802566 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:54802566C>T ENST00000391745.1 - 9 1242 c.926G>A c.(925-927)gGg>gAg p.G309E LILRA3_ENST00000391744.3_Missense_Mutation_p.G228E|LILRA3_ENST00000251390.3_Missense_Mutation_p.G292E leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTACTGGCCCCCGTAGGAGCG 0.682000 17 63 0 0 0.001523 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881727 228881727 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:228881727G>A ENST00000392056.3 - 7 3889 c.3843C>T c.(3841-3843)tcC>tcT p.S1281S SPHKAP_ENST00000344657.5_Silent_p.S1281S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1281 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) GACCGGATGAGGACGCGCTAC 0.507000 38 25 0 0 0.008740 0 0 LGALS14 56891 broad.mit.edu 37 19 40197274 40197274 + Missense_Mutation SNP C C T rs150238702 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:40197274C>T ENST00000392052.3 + 2 276 c.53C>T c.(52-54)tCg>tTg p.S18L LGALS14_ENST00000360675.3_Missense_Mutation_p.S47L NM_020129.2 NP_064514.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 18 Galectin. nucleus sugar binding p.S47L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) CCTGTTGGTTCGTGCGTGATA 0.507000 75 121 0 0 0.003610 0 0 ARPP21 10777 broad.mit.edu 37 3 35756948 35756948 + Silent SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:35756948A>G ENST00000187397.4 + 12 1371 c.915A>G c.(913-915)gaA>gaG p.E305E ARPP21_ENST00000417925.1_Silent_p.E271E|ARPP21_ENST00000458225.1_Silent_p.E271E|ARPP21_ENST00000337271.5_Silent_p.E271E|ARPP21_ENST00000444190.1_Silent_p.E271E NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 305 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GCTCCCAGGAAAGCCTTTTTG 0.343000 18 55 0 0 0.001523 0 0 UBR1 197131 broad.mit.edu 37 15 43360109 43360109 + Missense_Mutation SNP G G C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:43360109G>C ENST00000290650.4 - 6 863 c.785C>G c.(784-786)gCc>gGc p.A262G UBR1_ENST00000382177.2_Missense_Mutation_p.A262G NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 262 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TTTGTCAATGGCAGTGGTATG 0.468000 27 49 0 0 0.005443 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455470 84455470 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:84455470G>A ENST00000377084.2 - 1 1058 c.173C>T c.(172-174)tCc>tTc p.S58F NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 58 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTAAAACTGGGAAGTCGGGGC 0.433000 24 30 0 0 0.006320 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079780 70079780 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:70079780C>T ENST00000446444.1 - 1 669 c.661G>A c.(661-663)Gac>Aac p.D221N RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 221 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 AACCAAAAGTCAAAATAAAGC 0.323000 23 45 0 0 0.003954 0 0 LY6G6F 259215 broad.mit.edu 37 6 31678155 31678155 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:31678155G>A ENST00000375832.4 + 5 851 c.829G>A c.(829-831)Gaa>Aaa p.E277K XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron NM_001003693.1 NP_001003693.1 Q5SQ64 LY66F_HUMAN lymphocyte antigen 6 complex, locus G6F 277 integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 12 GTTCAAACCCGAAATCCAGGT 0.537000 170 499 0 0 0.003610 0 0 UTP20 27340 broad.mit.edu 37 12 101699781 101699781 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:101699781C>T ENST00000261637.4 + 16 2044 c.1870C>T c.(1870-1872)Cag>Tag p.Q624* NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 624 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GCCACTTTCCCAGGAGGCTTT 0.448000 39 80 0 0 0.006230 0 0 SCN11A 11280 broad.mit.edu 37 3 38949510 38949510 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38949510G>A ENST00000450244.1 - 10 1601 c.1403C>T c.(1402-1404)tCc>tTc p.S468F SCN11A_ENST00000444237.2_Missense_Mutation_p.S468F|SCN11A_ENST00000302328.3_Missense_Mutation_p.S468F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S468F Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 468 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) CAAAAAGAAGGACTTCCTTTT 0.398000 26 83 0 0 0.004656 0 0 STT3B 201595 broad.mit.edu 37 3 31621363 31621363 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:31621363A>G ENST00000295770.2 + 3 695 c.486A>G c.(484-486)atA>atG p.I162M STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 162 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 CATTGAACATAACTGTTCACA 0.353000 26 45 0 0 0.003954 0 0 DDX60L 91351 broad.mit.edu 37 4 169337923 169337923 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:169337923C>T ENST00000511577.1 - 20 2883 c.2636G>A c.(2635-2637)gGa>gAa p.G879E DDX60L_ENST00000260184.7_Missense_Mutation_p.G879E|DDX60L_ENST00000505890.1_Missense_Mutation_p.G879E Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 879 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AAATTTTGCTCCAACTTCTCT 0.338000 22 35 0 0 0.003954 0 0 WDR16 146845 broad.mit.edu 37 17 9532059 9532059 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:9532059G>A ENST00000352665.5 + 9 1165 c.1096G>A c.(1096-1098)Gag>Aag p.E366K WDR16_ENST00000299764.5_Missense_Mutation_p.E376K|WDR16_ENST00000396219.3_Missense_Mutation_p.E298K NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 366 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 ATCCAACAGGGAGCTGCTGCG 0.527000 14 13 0 0 0.003163 0 0 OTOGL 283310 broad.mit.edu 37 12 80729820 80729820 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:80729820C>T ENST00000458043.2 + 38 4479 c.4473C>T c.(4471-4473)tcC>tcT p.S1491S OTOGL_ENST00000547103.1_Silent_p.S1479S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ACAACTGGTCCCTTAATTGCC 0.418000 21 32 0 0 0.002299 0 0 CDCA7L 55536 broad.mit.edu 37 7 21946201 21946201 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:21946201G>A ENST00000406877.3 - 5 1017 c.738C>T c.(736-738)acC>acT p.T246T CDCA7L_ENST00000356195.5_Silent_p.T212T|CDCA7L_ENST00000373934.4_Silent_p.T200T|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 246 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTGAGGTTGGGGTTCGTACTG 0.423000 38 168 0 0 0.002222 0 0 DMBT1 1755 broad.mit.edu 37 10 124399765 124399765 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:124399765G>A ENST00000368909.3 + 52 6871 c.6765G>A c.(6763-6765)gtG>gtA p.V2255V DMBT1_ENST00000330163.4_Silent_p.V1627V|DMBT1_ENST00000368956.2_Silent_p.V1627V|DMBT1_ENST00000359586.6_Silent_p.V975V|DMBT1_ENST00000338354.3_Silent_p.V2255V|DMBT1_ENST00000344338.3_Silent_p.V2245V|DMBT1_ENST00000368955.3_Silent_p.V2245V NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2255 ZP. V -> M. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATTTTGACGTGAACATTTCCT 0.468000 40 52 0 0 0.004878 0 0 ATP13A5 344905 broad.mit.edu 37 3 193051659 193051659 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:193051659G>A ENST00000342358.4 - 11 1269 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 384 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) GGGGGTACAGGATGGATCTCA 0.453000 25 14 0 0 0.004656 0 0 CCDC132 55610 broad.mit.edu 37 7 92932784 92932784 + Missense_Mutation SNP T T A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:92932784T>A ENST00000544910.1 + 18 1504 c.1284T>A c.(1282-1284)gaT>gaA p.D428E CCDC132_ENST00000541136.1_Missense_Mutation_p.D269E|CCDC132_ENST00000305866.5_Missense_Mutation_p.D458E|CCDC132_ENST00000535481.1_Missense_Mutation_p.D178E|CCDC132_ENST00000317751.6_Missense_Mutation_p.D189E NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 458 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CACGGCTCGATGAACTGAGAA 0.338000 39 84 0 0 0.007835 0 0 CCDC68 80323 broad.mit.edu 37 18 52604176 52604176 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:52604176C>T ENST00000591504.1 - 6 633 c.359G>A c.(358-360)aGa>aAa p.R120K CCDC68_ENST00000337363.4_Missense_Mutation_p.R120K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R120K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 120 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TCCTGCTTCTCTGGAGGCTTG 0.423000 27 46 0 0 0.002836 0 0 OR4C46 119749 broad.mit.edu 37 11 51515538 51515538 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:51515538G>A ENST00000328188.1 + 1 257 c.257G>A c.(256-258)gGa>gAa p.G86E NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TCACTCTATGGAAAGAAGGCC 0.478000 43 101 0 0 0.008740 0 0 WASF3 10810 broad.mit.edu 37 13 27254258 27254258 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:27254258G>A ENST00000361042.4 + 7 852 c.627G>A c.(625-627)agG>agA p.R209R WASF3_ENST00000335327.5_Intron Q9UPY6 WASF3_HUMAN WAS protein family, member 3 208 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GGGAGAGAAGGAAAATGGGCA 0.453000 18 9 0 0 0.006122 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272197 43272197 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:43272197G>A ENST00000263246.3 - 10 1495 c.1294C>T c.(1294-1296)Cgg>Tgg p.R432W PACSIN2_ENST00000402229.1_Missense_Mutation_p.R432W|PACSIN2_ENST00000403744.3_Missense_Mutation_p.R432W|PACSIN2_ENST00000407585.1_Missense_Mutation_p.R391W|PACSIN2_ENST00000337959.4_Missense_Mutation_p.R391W|PACSIN2_ENST00000496919.1_5'UTR NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 432 SH3. actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) TACAGGGCCCGGACTCGCACT 0.607000 15 43 0 0 0.007413 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47582349 47582349 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:47582349G>A ENST00000334194.3 + 11 1297 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 432 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ATTCTCCAGGGAAAATTCTGA 0.408000 14 26 0 0 0.004990 0 0 SIX4 51804 broad.mit.edu 37 14 61190726 61190726 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr14:61190726C>T ENST00000216513.4 - 1 126 c.67G>A c.(67-69)Gaa>Aaa p.E23K NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 23 E -> Q (in a breast cancer sample; somatic mutation). nucleus p.E23Q(1) breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GAGGCGCTTTCCATCCCATTC 0.642000 56 103 0 0 0.003610 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42833145 42833145 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:42833145C>T ENST00000314073.5 + 13 3377 c.3201C>T c.(3199-3201)tcC>tcT p.S1067S GLTSCR1L_ENST00000394168.1_Silent_p.S1067S GLTSCR1-like AAACTGACTCCATTTTAGAAG 0.512000 37 133 0 0 0.002852 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140739823 140739823 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:140739823C>T ENST00000522605.1 + 1 121 c.121C>T c.(121-123)Ctg>Ttg p.L41L PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_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) TCCAGAGGAGCTGGCCAAAAA 0.607000 OREG0016857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 17 0 0 0.004990 0 0 GCOM1 145781 broad.mit.edu 37 15 57910270 57910270 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:57910270C>T ENST00000574161.1 + 3 321 c.202C>T c.(202-204)Cct>Tct p.P68S GCOM1_ENST00000587652.1_Missense_Mutation_p.P68S|MYZAP_ENST00000380565.4_Missense_Mutation_p.P68S|GCOM1_ENST00000396180.1_Missense_Mutation_p.P68S|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.P68S|GCOM1_ENST00000380561.2_Missense_Mutation_p.P68S|MYZAP_ENST00000267853.5_Missense_Mutation_p.P68S|GCOM1_ENST00000380560.2_Missense_Mutation_p.P68S|GCOM1_ENST00000380568.3_Missense_Mutation_p.P68S|GCOM1_ENST00000380569.2_Missense_Mutation_p.P68S NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 68 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CAGGAAACTTCCTCAGGGTGT 0.423000 16 32 0 0 0.007413 0 0 F5 2153 broad.mit.edu 37 1 169529805 169529805 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:169529805A>C ENST00000367796.3 - 4 774 c.573T>G c.(571-573)ctT>ctG p.L191L F5_ENST00000546081.1_Silent_p.L54L|F5_ENST00000367797.3_Silent_p.L191L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 191 F5/8 type A 1.|Plastocyanin-like 1. 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) TTTTACAGATAAGCAGGGGCC 0.473000 26 130 0 0 0.003954 0 0 CA8 767 broad.mit.edu 37 8 61121413 61121413 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:61121413C>T ENST00000317995.4 - 8 1068 c.804G>A c.(802-804)ggG>ggA p.G268G NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 268 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CTCCCAAAATCCCATCACAGC 0.428000 20 45 0 0 0.001523 0 0 OR52I1 390037 broad.mit.edu 37 11 4616183 4616183 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:4616183G>A ENST00000450052.2 + 2 987 c.987G>A c.(985-987)ctG>ctA p.L329L OR52I1_ENST00000530443.2_Silent_p.L305L Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AACAATTGCTGGAGGGAATAT 0.468000 32 91 0 0 0.002836 0 0 TREM2 54209 broad.mit.edu 37 6 41126415 41126415 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:41126415G>A ENST00000338469.3 - 4 689 c.586C>T c.(586-588)Ctt>Ttt p.L196F TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000373113.3_3'UTR NM_001271821.1 NP_001258750.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 0 axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCAGAACAAGGAGTCCTGGT 0.572000 7 21 0 0 0.001984 0 0 OR51B2 79345 broad.mit.edu 37 11 5344688 5344688 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:5344688G>A ENST00000328813.2 - 1 894 c.840C>T c.(838-840)ctC>ctT p.L280L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGGAGGAAAGAGGAAGTAGA 0.358000 22 47 0 0 0.001882 0 0 KIAA0319 9856 broad.mit.edu 37 6 24554805 24554805 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:24554805C>T ENST00000535378.1 - 20 3527 c.2885G>A c.(2884-2886)gGa>gAa p.G962E KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G926E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G971E|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G971E NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 971 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 AGTGAAACCTCCTGTTAGCAC 0.413000 75 260 0 0 0.003610 0 0 PAK7 57144 broad.mit.edu 37 20 9624959 9624959 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr20:9624959C>T ENST00000378429.3 - 4 564 c.18G>A c.(16-18)aaG>aaA p.K6K PAK7_ENST00000378423.1_Silent_p.K6K|PAK7_ENST00000353224.5_Silent_p.K6K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 6 ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CAATCTTTTTCTTTTTCTTCC 0.438000 10 35 0 0 0.001855 0 0 RGPD4 285190 broad.mit.edu 37 2 108488331 108488331 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:108488331G>A ENST00000408999.3 + 20 3948 c.3871G>A c.(3871-3873)Gga>Aga p.G1291R RGPD4_ENST00000354986.4_Missense_Mutation_p.G1291R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1291 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GTCAACAACAGGATCTAACTT 0.413000 237 117 0 0 0.003610 0 0 ARID2 196528 broad.mit.edu 37 12 46244079 46244079 + Nonsense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:46244079C>T ENST00000334344.6 + 15 2345 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q335*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q576* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 725 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCCATACCCCAGACAGGAGT 0.443000 """N, S, F""" hepatocellular carcinoma 32 71 0 0 0.003755 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822051 24822051 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:24822051C>T ENST00000376451.2 + 11 2608 c.2348C>T c.(2347-2349)cCa>cTa p.P783L KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1064L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1100L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1065L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1020L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P783L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P783L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P783L Q5T5P2 SKT_HUMAN KIAA1217 1100 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ACAAAATATCCAGCAGAGGAG 0.512000 26 16 0 0 0.003330 0 0 COL10A1 1300 broad.mit.edu 37 6 116441754 116441754 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:116441754G>A ENST00000327673.4 - 2 1932 c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P509S Q03692 COAA1_HUMAN collagen, type X, alpha 1 509 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) GGCCCAGGGGGCCCTGGAAGA 0.622000 13 30 0 0 0.003163 0 0 KDR 3791 broad.mit.edu 37 4 55955585 55955585 + Silent SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:55955585T>C ENST00000263923.4 - 25 3655 c.3360A>G c.(3358-3360)aaA>aaG p.K1120K RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1120 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TAGTTCCTTCTTTCAATCGCC 0.383000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 31 0 0 0.002780 0 0 ABCC3 8714 broad.mit.edu 37 17 48746224 48746224 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:48746224C>T ENST00000285238.8 + 15 1961 c.1881C>T c.(1879-1881)atC>atT p.I627I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 627 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) GCTATGCCATCACCATACACA 0.652000 5 17 0 0 0.001168 0 0 BRPF1 7862 broad.mit.edu 37 3 9776317 9776317 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:9776317C>T ENST00000383829.2 + 2 897 c.493C>T c.(493-495)Cac>Tac p.H165Y BRPF1_ENST00000433861.2_Missense_Mutation_p.H165Y|BRPF1_ENST00000457855.1_Missense_Mutation_p.H165Y|BRPF1_ENST00000424362.1_Missense_Mutation_p.H165Y|BRPF1_ENST00000302054.3_Missense_Mutation_p.H165Y NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 165 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CCATCACCACCACCACAATGT 0.557000 13 31 0 0 0.001855 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534882 96534882 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:96534882G>A ENST00000371321.3 + 2 318 c.236G>A c.(235-237)gGa>gAa p.G79E CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 79 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.G79E(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GTGCTGCATGGATATGAAGTG 0.458000 27 34 0 0 0.004656 0 0 OR2T1 26696 broad.mit.edu 37 1 248569764 248569764 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:248569764C>T ENST00000366474.1 + 1 469 c.469C>T c.(469-471)Ctt>Ttt p.L157F NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTACCTTACCCTTGTGGGAGC 0.512000 42 163 0 0 0.002222 0 0 POTEE 445582 broad.mit.edu 37 2 131976359 131976359 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:131976359C>T ENST00000356920.5 + 1 478 c.384C>T c.(382-384)ttC>ttT p.F128F PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.F128F|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 128 ATP binding ACAGCGCCTTCATGGAGCCCA 0.597000 59 33 0 0 0.003610 0 0 LAMA4 3910 broad.mit.edu 37 6 112537645 112537645 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:112537645G>A ENST00000230538.7 - 3 618 c.221C>T c.(220-222)aCc>aTc p.T74I LAMA4_ENST00000522006.1_Missense_Mutation_p.T74I|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.T74I|LAMA4_ENST00000431543.2_Missense_Mutation_p.T74I|LAMA4_ENST00000424408.2_Missense_Mutation_p.T74I NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 74 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCCCGACAGGGTGTGAAAGAA 0.428000 11 34 0 0 0.001368 0 0 SEPP1 6414 broad.mit.edu 37 5 42801131 42801131 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:42801131C>T ENST00000507920.1 - 3 575 c.506G>A c.(505-507)aGa>aAa p.R169K SEPP1_ENST00000509276.1_5'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000514985.1_Silent_p.K279K|SEPP1_ENST00000511224.1_Silent_p.K279K|SEPP1_ENST00000506577.1_Silent_p.K279K P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 0 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTATACATCTCTTTCGACAGA 0.423000 23 43 0 0 0.001882 0 0 CFAP54 144535 broad.mit.edu 37 12 97051735 97051735 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:97051735C>T ENST00000524981.3 + 4 529 c.529C>T c.(529-531)Ctt>Ttt p.L177F Q6ZTY8 CL063_HUMAN 151 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TGGTTCTAGTCTTACCTTTGA 0.353000 36 103 0 0 0.004289 0 0 FMO3 2328 broad.mit.edu 37 1 171080037 171080037 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:171080037C>T ENST00000367755.4 + 6 837 c.726C>T c.(724-726)ttC>ttT p.F242F FMO3_ENST00000542847.1_Silent_p.F222F|FMO3_ENST00000392085.2_Silent_p.F242F|FMO3_ENST00000538429.1_Silent_p.F179F NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 242 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) TTGGAACCTTCCTCAAGAACA 0.473000 27 176 0 0 0.004656 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141460942 141460942 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:141460942A>C ENST00000389328.4 - 2 839 c.825T>G c.(823-825)ctT>ctG p.L275L TRAPPC9_ENST00000438773.2_Silent_p.L177L|TRAPPC9_ENST00000389327.3_Silent_p.L177L NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 177 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GGACACAGAGAAGGGGGATCT 0.522000 3 15 0 0 0.000248 0 0 GLP2R 9340 broad.mit.edu 37 17 9783827 9783827 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:9783827C>T ENST00000262441.5 + 11 1791 c.1278C>T c.(1276-1278)tcC>tcT p.S426S GLP2R_ENST00000574745.1_Silent_p.S246S NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 426 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CACTGAGCTCCTTTCATGTAA 0.403000 24 26 0 0 0.003330 0 0 ZNF830 91603 broad.mit.edu 37 17 33289169 33289169 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:33289169C>T ENST00000361952.3 + 1 621 c.584C>T c.(583-585)tCc>tTc p.S195F NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 195 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) CACTCAGTTTCCTCTTCACGG 0.522000 14 18 0 0 0.001855 0 0 RIMS2 9699 broad.mit.edu 37 8 105257282 105257282 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:105257282G>A ENST00000507740.1 + 18 3151 c.2915G>A c.(2914-2916)gGa>gAa p.G972E RIMS2_ENST00000339750.2_Missense_Mutation_p.G94E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G997E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G1176E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1158E NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1220 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.G1176E(1)|p.G972E(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGCTCAGAAGGAAAGTGAGTG 0.498000 HNSCC(12;0.0054) 22 52 0 0 0.002299 0 0 TRPM6 140803 broad.mit.edu 37 9 77365608 77365608 + Silent SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:77365608T>G ENST00000451710.3 - 30 5266 c.5029A>C c.(5029-5031)Agg>Cgg p.R1677R TRPM6_ENST00000376864.4_Silent_p.R1677R|TRPM6_ENST00000376871.3_Silent_p.R510R|TRPM6_ENST00000449912.2_Silent_p.R1672R|TRPM6_ENST00000376872.3_Silent_p.R628R|TRPM6_ENST00000361255.3_Silent_p.R1672R|TRPM6_ENST00000360774.1_Silent_p.R1677R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1677 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 TTGGTGCTCCTGGAATTCCAC 0.418000 21 32 0 0 0.002299 0 0 OR4C3 256144 broad.mit.edu 37 11 48346654 48346654 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:48346654G>A ENST00000319856.4 + 1 183 c.162G>A c.(160-162)gtG>gtA p.V54V NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTCTCTTTGTGGTCTTTTTGC 0.463000 16 55 0 0 0.003163 0 0 DNAH8 1769 broad.mit.edu 37 6 38919199 38919199 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:38919199G>A ENST00000359357.3 + 80 11957 c.11703G>A c.(11701-11703)tgG>tgA p.W3901* RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W4118*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W3865* 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 AGAAAACTTGGGAAGAAAGTG 0.438000 146 180 0 0 0.003610 0 0 DSC1 1823 broad.mit.edu 37 18 28711664 28711664 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:28711664C>T ENST00000257197.3 - 15 2641 c.2380G>A c.(2380-2382)Gga>Aga p.G794R RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G794R|RP11-408H20.3_ENST00000582307.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 794 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TGTCCACCTCCTTTGTTGGAA 0.512000 61 109 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179590142 179590142 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr2:179590142T>G ENST00000589042.1 - 71 21013 c.20789A>C c.(20788-20790)aAg>aCg p.K6930T TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K6613T|TTN_ENST00000342992.6_Missense_Mutation_p.K5686T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6613 Ig-like 51. 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) ACCATCATTCTTGATTTGGCA 0.418000 13 8 0 0 0.004990 0 0 CRB1 23418 broad.mit.edu 37 1 197446994 197446994 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:197446994G>A ENST00000367400.3 + 12 4341 c.4206G>A c.(4204-4206)atG>atA p.M1402I CRB1_ENST00000544212.1_Missense_Mutation_p.M883I|CRB1_ENST00000367399.2_Missense_Mutation_p.M1290I|CRB1_ENST00000535699.1_Missense_Mutation_p.M1378I|CRB1_ENST00000538660.1_Missense_Mutation_p.M866I NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1402 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCCCTGCAATGGAGAGACTGA 0.522000 45 84 0 0 0.003610 0 0 CCDC60 160777 broad.mit.edu 37 12 119957998 119957998 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:119957998G>A ENST00000327554.2 + 9 1505 c.e9+1 RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TCAAATCAAGGTAGGAAAGCC 0.502000 40 89 0 0 0.006230 0 0 ADH7 131 broad.mit.edu 37 4 100348958 100348958 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:100348958C>T ENST00000437033.2 - 5 1039 c.536G>A c.(535-537)gGa>gAa p.G179E ADH7_ENST00000482593.1_Missense_Mutation_p.G122E|ADH7_ENST00000476959.1_Missense_Mutation_p.G199E|ADH7_ENST00000209665.4_Missense_Mutation_p.G191E P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 191 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) AGCGCCATATCCAGTGGAAAA 0.408000 16 26 0 0 0.004007 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103039681 103039681 + Nonsense_Mutation SNP G G T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:103039681G>T ENST00000375735.2 + 32 5104 c.4960G>T c.(4960-4962)Gaa>Taa p.E1654* DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E1654* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1654 AAA 1 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTATACTTATGAATATCAGGT 0.279000 15 21 1.62849e-17 1.96464e-17 0.004007 1 0 GUCY2C 2984 broad.mit.edu 37 12 14813932 14813932 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:14813932G>A ENST00000261170.3 - 11 1483 c.1347C>T c.(1345-1347)gtC>gtT p.V449V NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 449 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TCAGGAGAGCGACGAGCAGGA 0.547000 31 72 0 0 0.006230 0 0 SVIL 6840 broad.mit.edu 37 10 29840032 29840032 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:29840032C>T ENST00000375398.2 - 8 770 c.321G>A c.(319-321)agG>agA p.R107R SVIL_ENST00000355867.4_Silent_p.R107R|SVIL_ENST00000375400.3_Silent_p.R107R O95425 SVIL_HUMAN supervillin 107 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CTGCTTTGTACCTTGCAATTC 0.532000 47 53 0 0 0.003610 0 0 DLG2 1740 broad.mit.edu 37 11 84245714 84245714 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:84245714C>T ENST00000398309.2 - 2 573 c.103G>A c.(103-105)Gaa>Aaa p.E35K DLG2_ENST00000376104.2_Missense_Mutation_p.E140K|DLG2_ENST00000524982.1_Missense_Mutation_p.E35K|DLG2_ENST00000543673.1_Missense_Mutation_p.E140K|DLG2_ENST00000532653.1_Missense_Mutation_p.E35K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 35 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCTCTTACTTCGTGGGTTAGT 0.398000 36 70 0 0 0.003755 0 0 NRAP 4892 broad.mit.edu 37 10 115389533 115389533 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:115389533C>T ENST00000369358.4 - 19 2122 c.1878G>A c.(1876-1878)aaG>aaA p.K626K NRAP_ENST00000360478.3_Silent_p.K583K|NRAP_ENST00000359988.3_Silent_p.K618K|NRAP_ENST00000369360.3_Silent_p.K591K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 618 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAAAGCCTTTCTTATATTCAA 0.463000 11 17 0 0 0.000978 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315548 30315548 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:30315548C>G ENST00000375377.1 - 3 3630 c.3529G>C c.(3529-3531)Gat>Cat p.D1177H NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1177 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CCGTCCACATCTGAGTGCTCA 0.572000 60 62 0 0 0.003610 0 0 TENM4 26011 broad.mit.edu 37 11 78443603 78443603 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:78443603C>T ENST00000278550.7 - 21 3358 c.2896G>A c.(2896-2898)Ggc>Agc p.G966S NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GAGATGCCGCCATTTGTCACC 0.542000 10 20 0 0 0.006214 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057751 152057751 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:152057751G>A ENST00000368806.1 - 3 2471 c.2407C>T c.(2407-2409)Cag>Tag p.Q803* NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 803 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGTAGGTACTGGTATAGTGGA 0.493000 116 164 0 0 0.003610 0 0 CORIN 10699 broad.mit.edu 37 4 47644036 47644036 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:47644036G>A ENST00000273857.4 - 16 2098 c.2099C>T c.(2098-2100)tCc>tTc p.S700F CORIN_ENST00000508498.1_Missense_Mutation_p.S561F|CORIN_ENST00000502252.1_Missense_Mutation_p.S633F|CORIN_ENST00000505909.1_Missense_Mutation_p.S663F NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 700 SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CATCAGAAAGGAAGAGGAGTT 0.448000 27 42 0 0 0.006320 0 0 FCRL5 83416 broad.mit.edu 37 1 157497595 157497595 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:157497595C>T ENST00000361835.3 - 9 1929 c.1772G>A c.(1771-1773)aGa>aAa p.R591K FCRL5_ENST00000368190.3_Missense_Mutation_p.R591K|FCRL5_ENST00000356953.4_Missense_Mutation_p.R591K|FCRL5_ENST00000368191.3_Missense_Mutation_p.R506K NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 591 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGGAGAGCCTCTCGGGGCCTC 0.602000 46 77 0 0 0.003610 0 0 SCN11A 11280 broad.mit.edu 37 3 38962691 38962691 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:38962691C>T ENST00000450244.1 - 6 966 c.768G>A c.(766-768)gtG>gtA p.V256V SCN11A_ENST00000444237.2_Silent_p.V256V|SCN11A_ENST00000302328.3_Silent_p.V256V|SCN11A_ENST00000456224.3_Silent_p.V256V Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 256 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) TGAGGATAATCACGTTGACCA 0.532000 54 101 0 0 0.003610 0 0 SNX29 92017 broad.mit.edu 37 16 12662380 12662380 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr16:12662380G>A ENST00000566228.1 + 21 2405 c.2336G>A c.(2335-2337)gGa>gAa p.G779E SNX29_ENST00000306030.3_Missense_Mutation_p.G394E|CTD-3037G24.3_ENST00000564505.1_RNA NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 394 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 ACCCCGCCCGGAGAGCCTGTG 0.632000 12 36 0 0 0.002450 0 0 MPND 84954 broad.mit.edu 37 19 4359203 4359203 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:4359203G>A ENST00000599840.1 + 12 1405 c.1370G>A c.(1369-1371)aGg>aAg p.R457K MPND_ENST00000262966.8_Missense_Mutation_p.R427K|MPND_ENST00000359935.4_Missense_Mutation_p.R407K Q8N594 MPND_HUMAN MPN domain containing 427 peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GACCTCGTGAGGCTCCAGGAA 0.627000 14 33 0 0 0.002450 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758943 121758943 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:121758943G>A ENST00000261367.7 + 6 2080 c.652G>A c.(652-654)Gtg>Atg p.V218M SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V218M|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V171M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V171M|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V218M|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 171 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TTTTACCAAGGTGACTTCAGA 0.458000 37 39 0 0 0.006230 0 0 COL2A1 1280 broad.mit.edu 37 12 48375179 48375179 + Splice_Site SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:48375179C>T ENST00000380518.3 - 37 2574 c.2409_splice c.e37-1 p.G804_splice COL2A1_ENST00000337299.6_Splice_Site_p.G735_splice|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 804 Triple-helical region. G -> A (in hypochondrogenesis). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAACTTCTCCCTGAGGGTGG 0.657000 8 24 0 0 0.003080 0 0 BPIFC 254240 broad.mit.edu 37 22 32853264 32853264 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr22:32853264C>T ENST00000397452.1 - 2 220 c.110G>A c.(109-111)aGg>aAg p.R37K BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.R37K|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000397450.1_Missense_Mutation_p.R37K Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 37 extracellular region lipopolysaccharide binding|phospholipid binding GTCAAGTGCCCTCTGAGTAAT 0.498000 8 38 0 0 0.004482 0 0 MYO1F 4542 broad.mit.edu 37 19 8610586 8610586 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:8610586G>A ENST00000338257.8 - 13 1571 c.1304C>T c.(1303-1305)cCa>cTa p.P435L NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 435 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GTACTGGATTGGAGTCCAGCG 0.577000 89 167 0 0 0.003610 0 0 PIGR 5284 broad.mit.edu 37 1 207110943 207110943 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:207110943C>T ENST00000356495.4 - 4 725 c.542G>A c.(541-543)gGt>gAt p.G181D NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 181 Ig-like V-type 2. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATTTACATAACCACTGGAGTC 0.473000 11 44 0 0 0.008291 0 0 OR4A15 81328 broad.mit.edu 37 11 55136058 55136058 + Silent SNP G G A rs141225150 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:55136058G>A ENST00000314706.3 + 1 699 c.699G>A c.(697-699)gcG>gcA p.A233A NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A233A(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGGAGGAGCGATTTGTGCTG 0.413000 33 55 0 0 0.003755 0 0 ADH1B 125 broad.mit.edu 37 4 100237235 100237235 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:100237235C>T ENST00000305046.8 - 5 454 c.387G>A c.(385-387)agG>agA p.R129R ADH1B_ENST00000394887.3_Silent_p.R89R P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 129 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AGGTGAACCTCCTGGTGCCAT 0.542000 16 45 0 0 0.008871 0 0 PTPRC 5788 broad.mit.edu 37 1 198703464 198703464 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:198703464G>A ENST00000367376.2 + 22 2352 c.2181G>A c.(2179-2181)agG>agA p.R727R PTPRC_ENST00000348564.6_Silent_p.R568R|PTPRC_ENST00000442510.2_Silent_p.R729R|PTPRC_ENST00000594404.1_Silent_p.R566R|PTPRC_ENST00000352140.3_Silent_p.R679R NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 727 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TAGGTCCCAGGGATGAAACTG 0.338000 151 582 0 0 0.003610 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526002 176526002 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:176526002G>A ENST00000367662.3 + 2 1708 c.544G>A c.(544-546)Gaa>Aaa p.E182K PAPPA2_ENST00000367661.3_Missense_Mutation_p.E182K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 182 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E182K(2)|p.E182*(1) 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 AACCCTGAACGAACCCAAACC 0.587000 43 151 0 0 0.002222 0 0 CD177 57126 broad.mit.edu 37 19 43859701 43859701 + RNA SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:43859701G>A ENST00000378009.4 + 0 421 CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GCCCCTTTGGGAAGGCTGAGC 0.512000 5 12 0 0 0.000602 0 0 EPHA7 2045 broad.mit.edu 37 6 94124437 94124437 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:94124437G>A ENST00000369303.4 - 2 330 c.146C>T c.(145-147)tCc>tTc p.S49F EPHA7_ENST00000369297.1_Missense_Mutation_p.S49F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 49 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) GGGTGGAGAGGAAATCCACTC 0.353000 23 50 0 0 0.004656 0 0 MACF1 23499 broad.mit.edu 37 1 39888178 39888178 + Missense_Mutation SNP A A T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:39888178A>T ENST00000564288.1 + 59 16726 c.15949A>T c.(15949-15951)Aat>Tat p.N5317Y MACF1_ENST00000545844.1_Missense_Mutation_p.N3255Y|MACF1_ENST00000317713.7_Missense_Mutation_p.N3255Y|MACF1_ENST00000539005.1_Missense_Mutation_p.N3234Y|MACF1_ENST00000289893.4_Missense_Mutation_p.N3757Y|MACF1_ENST00000361689.2_Missense_Mutation_p.N3255Y|MACF1_ENST00000372915.3_Missense_Mutation_p.N5322Y|MACF1_ENST00000567887.1_Missense_Mutation_p.N5354Y Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5322 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGAAGAGATCAATGCTCGATG 0.418000 15 33 0 0 0.004007 0 0 ZFP42 132625 broad.mit.edu 37 4 188924639 188924639 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:188924639C>T ENST00000326866.4 + 4 1086 c.678C>T c.(676-678)ttC>ttT p.F226F ZFP42_ENST00000509524.1_Silent_p.F226F NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 226 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAAAGCGTTCGTTGAGAGCT 0.507000 35 58 0 0 0.004878 0 0 EFCAB14 9813 broad.mit.edu 37 1 47182005 47182005 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:47182005T>C ENST00000371933.3 - 2 1272 c.296A>G c.(295-297)aAg>aGg p.K99R EFCAB14_ENST00000544071.1_Missense_Mutation_p.K99R NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 CAGATCCTCCTTGAGAGCAAC 0.423000 4 51 0 0 0.000248 0 0 OR4C3 256144 broad.mit.edu 37 11 48346626 48346626 + Missense_Mutation SNP A A G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:48346626A>G ENST00000319856.4 + 1 155 c.134A>G c.(133-135)aAc>aGc p.N45S NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CTCTCACAGAACTCAGAGGTA 0.453000 21 53 0 0 0.003330 0 0 CLVS1 157807 broad.mit.edu 37 8 62412051 62412051 + Missense_Mutation SNP G G A rs35623706 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:62412051G>A ENST00000519846.1 + 7 1487 c.1015G>A c.(1015-1017)Gag>Aag p.E339K CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000518592.1_Missense_Mutation_p.E60K|CLVS1_ENST00000325897.4_Missense_Mutation_p.E339K Q8IUQ0 CLVS1_HUMAN clavesin 1 339 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCTGAAACATGAGGAGAAGGG 0.498000 17 45 0 0 0.004990 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832669 34832669 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:34832669C>T ENST00000299505.6 + 10 2703 c.1830C>T c.(1828-1830)tcC>tcT p.S610S NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 610 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CTCAGAATTCCAGTAATACAG 0.453000 22 47 0 0 0.001882 0 0 OR4X2 119764 broad.mit.edu 37 11 48266730 48266730 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:48266730C>T ENST00000302329.3 + 1 123 c.75C>T c.(73-75)ttC>ttT p.F25F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TATTTCTGTTCTTGTACACAG 0.453000 51 83 0 0 0.003610 0 0 RNF17 56163 broad.mit.edu 37 13 25349023 25349023 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr13:25349023G>A ENST00000255324.5 + 3 350 c.298G>A c.(298-300)Gaa>Aaa p.E100K RNF17_ENST00000255325.5_Missense_Mutation_p.E100K|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E100K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 100 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTCCATAATGGAAAAACTGCA 0.323000 9 17 0 0 0.008291 0 0 PKHD1 5314 broad.mit.edu 37 6 51918899 51918899 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:51918899C>T ENST00000371117.3 - 20 2176 c.1901G>A c.(1900-1902)gGc>gAc p.G634D PKHD1_ENST00000340994.4_Missense_Mutation_p.G634D NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 634 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTTTTGAAAGCCGATTGTGAA 0.473000 22 35 0 0 0.002780 0 0 XKR6 286046 broad.mit.edu 37 8 10782166 10782166 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:10782166C>T ENST00000416569.2 - 2 965 c.939G>A c.(937-939)aaG>aaA p.K313K XKR6_ENST00000304437.2_Silent_p.K34K NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 313 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CGGCGCTGTTCTTCTGGAGCA 0.657000 34 61 0 0 0.003755 0 0 ALB 213 broad.mit.edu 37 4 74279174 74279174 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:74279174C>T ENST00000295897.4 + 8 970 c.881C>T c.(880-882)tCg>tTg p.S294L ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.S102L|ALB_ENST00000401494.3_Missense_Mutation_p.S179L|ALB_ENST00000509063.1_Missense_Mutation_p.S294L|ALB_ENST00000503124.1_Missense_Mutation_p.S144L NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 294 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.S294L(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AATCAAGATTCGATCTCCAGT 0.423000 19 42 0 0 0.001882 0 0 KCNT1 57582 broad.mit.edu 37 9 138651645 138651645 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr9:138651645G>A ENST00000298480.5 + 11 1049 c.975G>A c.(973-975)tgG>tgA p.W325* KCNT1_ENST00000263604.3_Nonsense_Mutation_p.W306*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.W325*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.W286*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.W292*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.W306*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.W306*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.W280* B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 325 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCAAGATCTGGCCATCGCAGC 0.637000 18 17 0 0 0.006122 0 0 CHAT 1103 broad.mit.edu 37 10 50859976 50859976 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr10:50859976G>A ENST00000395562.2 + 12 1781 c.1312G>A c.(1312-1314)Ggg>Agg p.G438R CHAT_ENST00000395559.2_Missense_Mutation_p.G402R|CHAT_ENST00000339797.1_Missense_Mutation_p.G402R|CHAT_ENST00000337653.2_Missense_Mutation_p.G520R|CHAT_ENST00000351556.3_Missense_Mutation_p.G402R|CHAT_ENST00000455728.2_Missense_Mutation_p.G402R NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 520 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGACAACTATGGGAAAACATT 0.418000 10 16 0 0 0.008291 0 0 TMCO4 255104 broad.mit.edu 37 1 20009900 20009900 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:20009900G>A ENST00000294543.6 - 16 1779 c.1538C>T c.(1537-1539)gCc>gTc p.A513V TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.A513V|TMCO4_ENST00000375122.2_Missense_Mutation_p.A473V NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 513 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CTTCAGGATGGCATCCATCTG 0.672000 7 21 0 0 0.001984 0 0 RGS22 26166 broad.mit.edu 37 8 101016247 101016247 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:101016247G>A ENST00000360863.6 - 17 2728 c.2534C>T c.(2533-2535)cCt>cTt p.P845L RGS22_ENST00000523437.1_Missense_Mutation_p.P833L|RGS22_ENST00000523287.1_Missense_Mutation_p.P664L|RGS22_ENST00000519421.1_5'UTR NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 845 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GTATTCTGCAGGAACATTATC 0.373000 24 39 0 0 0.003330 0 0 MYO15A 51168 broad.mit.edu 37 17 18023245 18023245 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:18023245C>T ENST00000205890.5 + 2 1469 c.1131C>T c.(1129-1131)acC>acT p.T377T NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 377 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCCACTACACCGTCCCCTATG 0.597000 30 36 0 0 0.002836 0 0 LASP1 3927 broad.mit.edu 37 17 37046721 37046721 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:37046721C>T ENST00000318008.6 + 3 544 c.213C>T c.(211-213)aaC>aaT p.N71N LASP1_ENST00000433206.2_Intron|LASP1_ENST00000435347.3_Silent_p.N71N NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 71 cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 CCCCGGAAAACCTTCGCCTCA 0.622000 T MLL AML 19 68 0 0 0.001882 0 0 CLDN8 9073 broad.mit.edu 37 21 31587917 31587917 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr21:31587917C>T ENST00000399899.1 - 1 474 c.327G>A c.(325-327)ggG>ggA p.G109G CLDN8_ENST00000286809.1_Silent_p.G109G NM_199328.2 NP_955360.1 P56748 CLD8_HUMAN claudin 8 109 calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|endometrium(2)|large_intestine(6)|lung(6) 15 TCTCATTGTCCCCCGTGCACC 0.542000 11 19 0 0 0.008291 0 0 OASL 8638 broad.mit.edu 37 12 121469308 121469308 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:121469308G>A ENST00000257570.5 - 3 864 c.594C>T c.(592-594)ttC>ttT p.F198F OASL_ENST00000339275.5_Silent_p.F198F NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 198 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGTTTCACGAAATTTCTCT 0.587000 128 260 0 0 0.003610 0 0 SLC25A13 10165 broad.mit.edu 37 7 95813734 95813734 + Silent SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:95813734A>C ENST00000416240.2 - 11 1225 c.1035T>G c.(1033-1035)acT>acG p.T345T SLC25A13_ENST00000542654.1_Silent_p.T236T|SLC25A13_ENST00000265631.5_Silent_p.T344T NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 344 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GATACACAGCAGTGGCTCCAA 0.373000 5 21 0 0 0.001168 0 0 DSC2 1824 broad.mit.edu 37 18 28662218 28662218 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr18:28662218G>A ENST00000280904.6 - 9 1692 c.1249C>T c.(1249-1251)Ctt>Ttt p.L417F DSC2_ENST00000251081.6_Missense_Mutation_p.L417F NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 417 Cadherin 3. 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) ACTACACAAAGAACTCCTTCA 0.289000 25 71 0 0 0.003954 0 0 EPRS 2058 broad.mit.edu 37 1 220162035 220162035 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:220162035G>A ENST00000366923.3 - 19 2941 c.2672C>T c.(2671-2673)tCt>tTt p.S891F NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 891 3 X 57 AA approximate repeats. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AGCAGGTTCAGAATTTCTGGT 0.433000 66 103 0 0 0.003610 0 0 TIMM44 10469 broad.mit.edu 37 19 8006055 8006055 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:8006055G>A ENST00000270538.3 - 2 341 c.73C>T c.(73-75)Ctt>Ttt p.L25F NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 25 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TGGCTGGAAAGAAATTGGATT 0.547000 31 72 0 0 0.002096 0 0 KRT10 3858 broad.mit.edu 37 17 38976631 38976631 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:38976631C>T ENST00000269576.5 - 4 921 c.912G>A c.(910-912)gtG>gtA p.V304V TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 304 Gly-rich.|Linker 12.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) CATTCATTTCCACATTCACAT 0.418000 36 103 0 0 0.006999 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805686 50805686 + Splice_Site SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:50805686A>C ENST00000263046.4 + 6 1014 c.e6-1 TFAP2B_ENST00000393655.3_Splice_Site Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TTGCAATTTCAGAGCCAAATC 0.413000 52 89 0 0 0.003610 0 0 ART4 420 broad.mit.edu 37 12 14993629 14993629 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:14993629G>A ENST00000228936.4 - 2 984 c.603C>T c.(601-603)acC>acT p.T201T C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 201 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 CAAATCGAATGGTGGCCCCTG 0.498000 19 37 0 0 0.008871 0 0 CD84 8832 broad.mit.edu 37 1 160523816 160523816 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:160523816G>A ENST00000368054.3 - 3 544 c.509C>T c.(508-510)cCc>cTc p.P170L CD84_ENST00000368051.3_Missense_Mutation_p.P170L|CD84_ENST00000311224.4_Missense_Mutation_p.P170L|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.P170L|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.P56L NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 170 Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTCTCCCAGGGGACTCCAATT 0.448000 30 133 0 0 0.001786 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153312912 153312912 + Missense_Mutation SNP G G A rs142296774 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:153312912G>A ENST00000368739.3 - 7 1115 c.757C>T c.(757-759)Cgg>Tgg p.R253W PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R257W Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 257 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGGATGTCCCGGACCAGCAGG 0.542000 49 84 0 0 0.003610 0 0 CLU 1191 broad.mit.edu 37 8 27468013 27468013 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:27468013C>T ENST00000316403.10 - 2 481 c.76G>A c.(76-78)Gtc>Atc p.V26I CLU_ENST00000405140.3_Missense_Mutation_p.V26I|CLU_ENST00000546343.1_Missense_Mutation_p.V37I|CLU_ENST00000523500.1_Missense_Mutation_p.V26I|CLU_ENST00000560366.1_Missense_Mutation_p.V78I P10909 CLUS_HUMAN clusterin 26 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TTGTCTGAGACCGTCTGGTCC 0.567000 29 54 0 0 0.001786 0 0 ZBTB41 360023 broad.mit.edu 37 1 197147566 197147566 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:197147566G>A ENST00000367405.4 - 6 1821 c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R585C(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTTCCATGACGAAAACTTTGC 0.299000 12 75 0 0 0.002450 0 0 FGD5 152273 broad.mit.edu 37 3 14939084 14939084 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:14939084G>A ENST00000285046.5 + 5 2927 c.2817G>A c.(2815-2817)cgG>cgA p.R939R FGD5_ENST00000543601.1_Silent_p.R698R|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 939 DH. 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 NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CATTGGCCCGGGAGGAGCTGA 0.552000 4 5 0 0 0.000248 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278422 36278422 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:36278422C>T ENST00000007510.4 + 21 3099 c.2955C>T c.(2953-2955)ccC>ccT p.P985P ARHGAP33_ENST00000314737.5_Silent_p.P824P|ARHGAP33_ENST00000378944.5_Silent_p.P849P O14559 RHG33_HUMAN Rho GTPase activating protein 33 985 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCCAGCGGCCCATGGGGACCT 0.687000 10 16 0 0 0.000978 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630423 74630423 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr15:74630423C>T ENST00000358632.4 - 9 1677 c.982G>A c.(982-984)Gaa>Aaa p.E328K CYP11A1_ENST00000268053.6_Missense_Mutation_p.E486K|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E328K NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 486 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TGTTGGATTTCAACTCTGAAG 0.522000 31 61 0 0 0.002445 0 0 NR1H3 10062 broad.mit.edu 37 11 47282910 47282910 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:47282910C>T ENST00000467728.1 + 4 1856 c.618C>T c.(616-618)ctC>ctT p.L206L NR1H3_ENST00000407404.1_Silent_p.L206L|NR1H3_ENST00000405576.1_Silent_p.L161L|NR1H3_ENST00000441012.2_Silent_p.L206L|NR1H3_ENST00000405853.3_Silent_p.L206L|NR1H3_ENST00000481889.2_Silent_p.L161L|NR1H3_ENST00000527949.1_Silent_p.L115L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Silent_p.L161L Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 206 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 TGCCCCAGCTCAGCCCGGAAC 0.597000 18 17 0 0 0.008871 0 0 DNAH10 196385 broad.mit.edu 37 12 124350589 124350589 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:124350589G>A ENST00000409039.3 + 40 6807 c.6782G>A c.(6781-6783)tGg>tAg p.W2261* NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2261 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CGACCATACTGGAAAAAATGG 0.343000 18 30 0 0 0.004990 0 0 SLIT2 9353 broad.mit.edu 37 4 20611778 20611778 + Missense_Mutation SNP C C G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:20611778C>G ENST00000504154.1 + 34 4087 c.3835C>G c.(3835-3837)Ctc>Gtc p.L1279V SLIT2_ENST00000503823.1_Missense_Mutation_p.L1271V|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1292V|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1275V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1279 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.L1279I(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGACTCTCCACTCTATGTAGG 0.428000 14 33 0 0 0.004007 0 0 PDE3A 5139 broad.mit.edu 37 12 20766429 20766429 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:20766429G>A ENST00000359062.3 + 3 1104 c.1064G>A c.(1063-1065)gGc>gAc p.G355D PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 355 HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GAGGCCCACGGCCTCATTACC 0.542000 32 59 0 0 0.002445 0 0 MLIP 90523 broad.mit.edu 37 6 54095605 54095605 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:54095605C>T ENST00000502396.1 + 12 2844 c.2812C>T c.(2812-2814)Ctc>Ttc p.L938F MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.L403F Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 403 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TCCACAGACCCTCTCACATGC 0.517000 86 168 0 0 0.003610 0 0 C4BPB 725 broad.mit.edu 37 1 207273196 207273196 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:207273196G>A ENST00000243611.5 + 6 975 c.681G>A c.(679-681)aaG>aaA p.K227K C4BPB_ENST00000367076.3_Silent_p.K226K|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000367078.3_Silent_p.K227K|C4BPB_ENST00000391923.1_Silent_p.K227K NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 227 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 AACAATTAAAGGAAAGTGGCA 0.393000 26 139 0 0 0.006320 0 0 GRM7 2917 broad.mit.edu 37 3 7494349 7494349 + Silent SNP C C T rs143220145 byFrequency TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:7494349C>T ENST00000486284.1 + 6 1504 c.1230C>T c.(1228-1230)ttC>ttT p.F410F GRM7_ENST00000403881.1_Silent_p.F410F|GRM7_ENST00000402647.2_Silent_p.F410F|GRM7_ENST00000389336.4_Silent_p.F410F|GRM7_ENST00000357716.4_Silent_p.F410F|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 410 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AAGTCCAGTTCGTGATTGACG 0.493000 17 32 0 0 0.004990 0 0 FMN2 56776 broad.mit.edu 37 1 240374416 240374416 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr1:240374416G>A ENST00000319653.9 + 6 4176 c.3946G>A c.(3946-3948)Gaa>Aaa p.E1316K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1316 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACTTATTTGGGAAAAAATTGA 0.328000 48 87 0 0 0.003610 0 0 OR56A4 120793 broad.mit.edu 37 11 6023368 6023368 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:6023368G>A ENST00000330728.4 - 1 1056 c.1011C>T c.(1009-1011)ctC>ctT p.L337L NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGGGAATGAGGTGGTGCA 0.488000 6 38 0 0 0.001168 0 0 UNC5C 8633 broad.mit.edu 37 4 96137344 96137344 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:96137344G>A ENST00000453304.1 - 10 2012 c.1664C>T c.(1663-1665)cCc>cTc p.P555L UNC5C_ENST00000506749.1_Missense_Mutation_p.P574L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 555 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GGCCCCAGCGGGAATCAGCAA 0.448000 7 39 0 0 0.003080 0 0 DHX8 1659 broad.mit.edu 37 17 41571178 41571178 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:41571178C>T ENST00000262415.3 + 8 1208 c.1136C>T c.(1135-1137)cCt>cTt p.P379L DHX8_ENST00000540306.1_Missense_Mutation_p.P379L NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 379 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GTCAGTGCTCCTGAAGTAGAG 0.517000 42 93 0 0 0.002852 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501933 140501933 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:140501933G>A ENST00000194152.1 + 1 353 c.353G>A c.(352-354)gGa>gAa p.G118E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 118 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTTTCAAGGAGAATTATTG 0.433000 23 23 0 0 0.001882 0 0 PKHD1 5314 broad.mit.edu 37 6 51890878 51890878 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:51890878C>T ENST00000371117.3 - 32 4005 c.3730G>A c.(3730-3732)Gag>Aag p.E1244K PKHD1_ENST00000340994.4_Missense_Mutation_p.E1244K NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1244 IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ATGCTCGCCTCCGTTAAGTTC 0.587000 22 48 0 0 0.003954 0 0 COL23A1 91522 broad.mit.edu 37 5 177676175 177676175 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr5:177676175C>T ENST00000390654.3 - 19 1449 c.1092G>A c.(1090-1092)gaG>gaA p.E364E NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 364 Collagen-like 3.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CTGGCCCAGGCTCTCCTGGGT 0.627000 85 252 0 0 0.003610 0 0 UNC5D 137970 broad.mit.edu 37 8 35647877 35647877 + Splice_Site SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr8:35647877G>A ENST00000287272.2 + 16 2471 c.2450_splice c.e16-1 p.R817_splice UNC5D_ENST00000449677.1_Splice_Site_p.R462_splice|UNC5D_ENST00000420357.1_Splice_Site_p.R819_splice|UNC5D_ENST00000416672.1_Splice_Site_p.R891_splice|UNC5D_ENST00000453357.2_Splice_Site_p.R881_splice|UNC5D_ENST00000404895.2_Splice_Site_p.R886_splice Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 886 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTCCATCTAGGAATTTATCTT 0.363000 27 53 0 0 0.004656 0 0 KIF13A 63971 broad.mit.edu 37 6 17837293 17837293 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:17837293G>A ENST00000378814.5 - 11 970 c.971C>T c.(970-972)tCt>tTt p.S324F KIF13A_ENST00000378843.2_Missense_Mutation_p.S324F|KIF13A_ENST00000378816.5_Missense_Mutation_p.S324F|KIF13A_ENST00000378826.2_Missense_Mutation_p.S324F|KIF13A_ENST00000259711.6_Missense_Mutation_p.S324F NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 324 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GGCTATCATAGAGGTTTGGCT 0.458000 174 124 0 0 0.003610 0 0 CCDC60 160777 broad.mit.edu 37 12 119909856 119909856 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr12:119909856G>A ENST00000327554.2 + 3 693 c.228G>A c.(226-228)gaG>gaA p.E76E RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 76 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TGAGGGAAGAGACTGCAAAGA 0.453000 40 79 0 0 0.002522 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919714 142919714 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:142919714G>A ENST00000408947.3 + 1 585 c.543G>A c.(541-543)acG>acA p.T181T NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 181 sensory perception of taste integral to membrane G-protein coupled receptor activity p.T181T(1) kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CCAACTCCACGGAGAAGAAGT 0.458000 57 96 0 0 0.003610 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774476 89774476 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr11:89774476G>A ENST00000448984.1 + 8 1446 c.1117G>A c.(1117-1119)Gga>Aga p.G373R TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 373 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 GAAGATAGATGGAAAGGAGGG 0.423000 9 38 0 0 0.008291 0 0 CXCR6 10663 broad.mit.edu 37 3 45988619 45988620 + Frame_Shift_Del DEL AA AA - TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:45988619_45988620delAA ENST00000458629.1 + 1 2109_2110 c.646_647delAA c.(646-648)afs p.K216fs CXCR6_ENST00000304552.4_Frame_Shift_Del_p.K216fs|CXCR6_ENST00000438735.1_Frame_Shift_Del_p.K216fs|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Frame_Shift_Del_p.K216fs|FYCO1_ENST00000296137.2_Intron O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 216 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGTCATAATCAAAACACTGCTT 0.495 38 118 --- --- --- --- IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159482272 159482274 + In_Frame_Del DEL GCA GCA - TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr3:159482272_159482274delGCA ENST00000337808.6 + 2 681_683 c.104_106delGCA c.(103-108)ggc>g p.GS35del IQCJ-SCHIP1_ENST00000476809.1_In_Frame_Del_p.GS84del|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000460298.1_In_Frame_Del_p.GS8del|IQCJ-SCHIP1_ENST00000485419.1_In_Frame_Del_p.GS111del|IQCJ-SCHIP1_ENST00000412423.2_In_Frame_Del_p.GS35del NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 35 Ser-rich. cytoplasm identical protein binding|protein binding p.S41delS(1)|p.S117delS(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AGTGACGCCGgcagcagcagcag 0.635 4 6 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(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) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 8 35 --- --- --- --- HDGFL1 154150 broad.mit.edu 37 6 22570346 22570347 + In_Frame_Ins INS - - GGC TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:22570346_22570347insGGC ENST00000510882.2 + 1 552_553 c.542_543insGGC c.(541-543)agc>aGGCgc p.181_181S>RR HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 181 Ala-rich.|Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) gaagcggagagggcggcggcgg 0.767 6 9 --- --- --- --- SNAP91 9892 broad.mit.edu 37 6 84371317 84371324 + Splice_Site DEL TCATAACC TCATAACC - TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr6:84371317_84371324delTCATAACC ENST00000428679.2 - 5 943_949 c.349_splice c.e5-1 p.117_splice SNAP91_ENST00000437520.1_Splice_Site_p.117_splice|SNAP91_ENST00000439399.2_Splice_Site_p.117_splice|SNAP91_ENST00000521485.1_Splice_Site_p.117_splice|SNAP91_ENST00000520302.1_Splice_Site_p.117_splice|SNAP91_ENST00000520213.1_Splice_Site_p.117_splice|SNAP91_ENST00000369694.2_Splice_Site_p.117_splice|SNAP91_ENST00000521743.1_Splice_Site_p.117_splice|SNAP91_ENST00000195649.6_Splice_Site_p.117_splice O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 117 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GGTAGACATATCATAACCTGGGAGAGTG 0.341 9 44 --- --- --- --- NYAP1 222950 broad.mit.edu 37 7 100084786 100084787 + Frame_Shift_Ins INS - - C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:100084786_100084787insC ENST00000423930.1 + 3 570_571 c.411_412insC c.(409-414)acccccfs p.TP137fs NYAP1_ENST00000300179.2_Frame_Shift_Ins_p.TP137fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.TP80fs Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 137 GGGCAGAGACGCCCCCCAGCAA 0.668 9 23 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr7:103629803_103629804insGCCGCC ENST00000424685.2 - 0 159_160 RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000428762.1_Start_Codon_Ins P78509 RELN_HUMAN reelin 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 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) CTGCGCTCCATgccgccgccgc 0.723 6 6 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578267 7578267 + Frame_Shift_Del DEL A A - TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr17:7578267delA ENST00000420246.2 - 6 714 c.582delT c.(580-582)ctfs p.L194fs TP53_ENST00000413465.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(6)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*52(3)|p.P191_E198>Q(3)|p.I63fs*>28(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACTCGGATAAGATGCTGAG 0.552 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 15 --- --- --- --- GNA11 2767 broad.mit.edu 37 19 3119233 3119233 + Frame_Shift_Del DEL C C - TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8275a021-5dc0-4304-9bf5-4b1249c4aea3 4f0ad789-2e41-4c2a-bfbf-7fda1c8296f0 g.chr19:3119233delC ENST00000078429.4 + 6 1007 c.765delC c.(763-765)ttfs p.F255fs AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 255 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) AAGCCCTGTTCCGGACCATCA 0.612 Mis uveal melanoma 47 74 --- --- --- ---