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 FAM66D 100132923 broad.mit.edu 37 8 11986053 11986053 + RNA SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:11986053G>A ENST00000434078.2 + 0 608 NR_027425.1 CACAATGATAGGCATTCTCTC 0.507000 4 39 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89167161 89167161 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:89167161G>A ENST00000317447.4 + 3 449 c.72G>A c.(70-72)gcG>gcA p.A24A ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.A24A NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 24 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGGCGCCTGCGAGACACAGAG 0.677000 13 42 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201752566 201752566 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:201752566C>T ENST00000367296.4 + 7 2810 c.2390C>T c.(2389-2391)tCa>tTa p.S797L NAV1_ENST00000367302.1_Missense_Mutation_p.S810L|NAV1_ENST00000367297.4_Missense_Mutation_p.S797L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.S797L|NAV1_ENST00000367295.1_Missense_Mutation_p.S406L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S797L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 797 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AAACCACCCTCACTAGCCAAT 0.448000 136 249 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17323118 17323118 + Nonstop_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:17323118G>T ENST00000594824.1 + 40 6620 c.6473G>T c.(6472-6474)tGa>tTa p.*2158L MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR Q13459 MYO9B_HUMAN myosin IXB 0 actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 ACCAATGGCTGAGAGCCACAG 0.652000 5 9 0.184627 0.184627 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168100851 168100851 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:168100851C>T ENST00000409195.1 + 9 3038 c.2949C>T c.(2947-2949)ttC>ttT p.F983F XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 808 actin cytoskeleton organization cell junction actin binding p.F983F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AATCTCTCTTCGAGACAACAC 0.353000 15 63 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184469 130184469 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:130184469C>T ENST00000422113.2 - 2 1180 c.854G>A c.(853-855)cGt>cAt p.R285H NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 285 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) GTTGTCCAGACGCAGTTCTCT 0.522000 8 45 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167386 64167386 + Missense_Mutation SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:64167386A>T ENST00000395391.1 + 4 2079 c.704A>T c.(703-705)aAg>aTg p.K235M ZNF107_ENST00000344930.3_Missense_Mutation_p.K235M|ZNF107_ENST00000423627.1_Missense_Mutation_p.K235M Q9UII5 ZN107_HUMAN zinc finger protein 107 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) ACTACACAAAAGATACTTCAC 0.353000 26 67 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156890116 156890116 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:156890116C>G ENST00000311946.7 + 2 354 c.238C>G c.(238-240)Ctc>Gtc p.L80V ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Missense_Mutation_p.L80V NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 80 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCTGCTCCACCTCTACTGCTC 0.512000 34 58 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40010852 40010852 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:40010852C>T ENST00000308666.3 - 2 1193 c.1058G>A c.(1057-1059)aGc>aAc p.S353N NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 353 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TCCACTGCTGCTCCAAACATA 0.358000 26 98 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55576698 55576698 + Nonsense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:55576698C>A ENST00000436346.1 - 9 1679 c.838G>T c.(838-840)Gaa>Taa p.E280* CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.E280*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.E280*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.E280* NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 280 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGCTCAAGTTCTTGTTTACAA 0.333000 8 61 0.000274275 0.000279141 1 1 0 ADAM10 102 broad.mit.edu 37 15 58974419 58974419 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:58974419G>C ENST00000260408.3 - 3 744 c.301C>G c.(301-303)Cat>Gat p.H101D ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 101 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) GTGTAAATATGAGAGGTATCA 0.318000 17 50 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108233410 108233410 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:108233410C>T ENST00000281092.4 + 10 1481 c.1097C>T c.(1096-1098)tCa>tTa p.S366L FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Missense_Mutation_p.S191L NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 366 intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) CTGAAACAGTCAGTCCAGCAG 0.373000 15 47 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175983020 175983020 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:175983020C>G ENST00000264110.2 - 6 575 c.277G>C c.(277-279)Gag>Cag p.E93Q ATF2_ENST00000392544.1_Missense_Mutation_p.E93Q|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.E75Q|ATF2_ENST00000487334.2_Missense_Mutation_p.E75Q|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.E35Q|ATF2_ENST00000409635.1_Missense_Mutation_p.E35Q|ATF2_ENST00000409833.1_Missense_Mutation_p.E93Q|ATF2_ENST00000538946.1_Missense_Mutation_p.E75Q|ATF2_ENST00000409437.1_Missense_Mutation_p.E75Q NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 93 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) AATTCATTCTCAAATGGACTC 0.323000 14 55 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105957 168105957 + Silent SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:168105957A>G ENST00000409195.1 + 9 8144 c.8055A>G c.(8053-8055)caA>caG p.Q2685Q XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q2463Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q2685Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTAGTACCCAACAAACACAAC 0.368000 36 84 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131764164 131764164 + Splice_Site SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:131764164G>T ENST00000372577.2 + 36 4067 c.4046G>T c.(4045-4047)gGa>gTa p.G1349V NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1349 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCCTCCCAGGGAGCCACAGCA 0.582000 19 26 1.74485e-21 1.90814e-21 1 1 0 COL9A1 1297 broad.mit.edu 37 6 70990717 70990717 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:70990717G>A ENST00000357250.6 - 9 1060 c.902C>T c.(901-903)cCg>cTg p.P301L COL9A1_ENST00000370499.4_Missense_Mutation_p.P58L|COL9A1_ENST00000320755.7_Missense_Mutation_p.P58L|COL9A1_ENST00000370496.3_Missense_Mutation_p.P301L NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 301 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CGGGGGGCCCGGGGGGCCCTT 0.577000 28 59 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106461479 106461479 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:106461479C>G ENST00000261402.2 - 7 2466 c.1087G>C c.(1087-1089)Gag>Cag p.E363Q NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 363 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 CGCTGCCGCTCTAGCATGACC 0.542000 17 79 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50910682 50910682 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:50910682C>T ENST00000013125.4 - 19 1730 c.1412G>A c.(1411-1413)cGa>cAa p.R471Q NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 471 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) GTCCTTTTTTCGTGGTAACTG 0.348000 6 7 0 0 1 0 0 TCEANC 170082 broad.mit.edu 37 X 13681434 13681434 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:13681434G>C ENST00000380600.1 + 2 894 c.807G>C c.(805-807)ttG>ttC p.L269F TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000314720.4_Missense_Mutation_p.L299F|TCEANC_ENST00000545566.1_Missense_Mutation_p.L269F|TCEANC_ENST00000544987.1_Missense_Mutation_p.L269F Q8N8B7 TEANC_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 269 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1) 9 TGAAGCAGTTGAGAGCCTCCT 0.418000 6 11 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213150 26213150 + Missense_Mutation SNP T T A rs148714935 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:26213150T>A ENST00000379034.1 + 2 1336 c.1187T>A c.(1186-1188)aTa>aAa p.I396K NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 396 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GACGCTTTGATAGATGAGGTA 0.507000 63 31 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932050 23932050 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:23932050G>A ENST00000331837.4 - 1 400 c.315C>T c.(313-315)ctC>ctT p.L105L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 105 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGTACCACATGAGCTCGTGCG 0.652000 Prader-Willi syndrome 8 178 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51005271 51005271 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:51005271C>T ENST00000396153.2 - 14 1849 c.1398G>A c.(1396-1398)gtG>gtA p.V466V FAF1_ENST00000545823.1_Silent_p.V224V|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Silent_p.V466V NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 466 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TACCTTGTATCACATTCAACA 0.378000 9 61 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138958753 138958753 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:138958753G>T ENST00000473989.3 + 11 1906 c.1906G>T c.(1906-1908)Gat>Tat p.D636Y UBN2_ENST00000288561.8_Missense_Mutation_p.D553Y NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GTCTGCTGAAGATTATCTTAA 0.358000 6 48 0.000673444 0.000684289 1 1 0 CADPS 8618 broad.mit.edu 37 3 62518605 62518605 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:62518605G>C ENST00000383710.4 - 13 2581 c.2232C>G c.(2230-2232)atC>atG p.I744M CADPS_ENST00000283269.9_Missense_Mutation_p.I744M|CADPS_ENST00000357948.3_Missense_Mutation_p.I727M NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 744 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.I744I(2) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GGGTGGGGTCGATCATGGCGC 0.517000 14 91 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17983194 17983194 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:17983194C>T ENST00000361221.3 + 25 3010 c.2851C>T c.(2851-2853)Cgg>Tgg p.R951W ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R946W|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R654W|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R912W|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R724W|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R912W|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 951 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TGCTTACCCTCGGACCAGCGG 0.652000 26 29 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220332000 220332000 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:220332000G>A ENST00000312358.7 + 10 3118 c.2986G>A c.(2986-2988)Gac>Aac p.D996N SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 996 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGGGCCCACTGACGTGGAGGT 0.652000 25 89 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10204269 10204269 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:10204269C>T ENST00000418404.3 - 40 5979 c.5816G>A c.(5815-5817)tGa>tAa p.*1939* MYH13_ENST00000252172.4_Silent_p.*1939*|RP11-401O9.4_ENST00000609088.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 0 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.*1939*(4) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGGTGAGCCTCATTCTTCCAT 0.438000 35 34 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3190757 3190757 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:3190757G>C ENST00000396878.3 + 6 1264 c.789G>C c.(787-789)caG>caC p.Q263H ZNF213_ENST00000576416.1_Missense_Mutation_p.Q263H|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q263H|ZNF213_ENST00000416391.2_Missense_Mutation_p.Q105H NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 263 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 TGCCAGGCCAGACAGGCAGCG 0.677000 25 44 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72215722 72215722 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:72215722G>A ENST00000340595.3 + 2 547 c.351G>A c.(349-351)ctG>ctA p.L117L SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.L161L|SLC4A4_ENST00000512686.1_Silent_p.L117L|SLC4A4_ENST00000425175.1_Silent_p.L161L|SLC4A4_ENST00000264485.5_Silent_p.L161L NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 161 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TATTTGAGCTGAGGACATGTA 0.443000 92 82 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109793756 109793756 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:109793756G>A ENST00000271332.3 + 1 1116 c.1055G>A c.(1054-1056)cGt>cAt p.R352H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 352 Cadherin 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ATCCGAACCCGTGGCCCTGTG 0.622000 29 43 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85647870 85647870 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:85647870G>C ENST00000341460.5 - 3 2504 c.2455C>G c.(2455-2457)Caa>Gaa p.Q819E NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 819 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) ACAACTTTTTGAATATCAACT 0.338000 4 10 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219366426 219366426 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:219366426C>T ENST00000366928.5 + 3 241 c.194C>T c.(193-195)tCa>tTa p.S65L LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Intron NM_138794.3 NP_620149 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 65 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TTAAACAGATCATATACTCCT 0.343000 9 42 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737712 152737712 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:152737712G>A ENST00000367255.5 - 41 6461 c.5860C>T c.(5860-5862)Cag>Tag p.Q1954* SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1961*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1991*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1954*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1961* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1954 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) CCACAGAGCTGATCAGCCGTG 0.512000 HNSCC(10;0.0054) 25 114 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147096275 147096275 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:147096275C>T ENST00000234739.3 + 10 4536 c.3796C>T c.(3796-3798)Cct>Tct p.P1266S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1266 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCCCCAGGGTCCTGGACCTGG 0.562000 T """IGH@, IGL@""" B-ALL 13 56 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81714153 81714153 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:81714153C>T ENST00000356860.3 - 7 928 c.590G>A c.(589-591)cGc>cAc p.R197H CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R197H|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R197H NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 197 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GTCTTCCTCGCGATTCTTTTT 0.378000 19 40 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153135552 153135552 + Nonsense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:153135552G>T ENST00000370060.1 - 9 1139 c.950C>A c.(949-951)tCa>tAa p.S317* L1CAM_ENST00000361699.4_Nonsense_Mutation_p.S317*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.S312*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.S319*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.S319*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.S312*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.S317* NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 317 Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACTGCCCAGTGAGTTCTCGGC 0.627000 82 66 8.87156e-34 9.76955e-34 1 1 0 TTN 7273 broad.mit.edu 37 2 179468995 179468995 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:179468995C>T ENST00000589042.1 - 282 54643 c.54419G>A c.(54418-54420)cGa>cAa p.R18140Q TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9200Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16499Q|TTN_ENST00000342175.6_Missense_Mutation_p.R9267Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9075Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15572Q|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16499 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R15572Q(2)|p.R9267Q(1)|p.R9075Q(1)|p.R9200Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCCTGACTCGGAACTCATA 0.368000 9 32 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90262265 90262265 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:90262265G>C ENST00000469640.2 + 14 1651 c.1276G>C c.(1276-1278)Gat>Cat p.D426H DAPK1_ENST00000472284.1_Missense_Mutation_p.D426H|DAPK1_ENST00000491893.1_Missense_Mutation_p.D426H|DAPK1_ENST00000408954.3_Missense_Mutation_p.D426H|DAPK1_ENST00000358077.5_Missense_Mutation_p.D426H P53355 DAPK1_HUMAN death-associated protein kinase 1 426 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGGCCACGTCGATACCTTGAA 0.507000 Chronic Lymphocytic Leukemia, Familial Clustering of 21 52 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89167230 89167230 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:89167230C>G ENST00000317447.4 + 3 518 c.141C>G c.(139-141)ttC>ttG p.F47L ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.F47L NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 47 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) CCCCGGTGTTCACCCGTGCCC 0.677000 11 57 0 0 1 0 0 RNF126 55658 broad.mit.edu 37 19 651661 651661 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:651661G>A ENST00000292363.5 - 4 548 c.393C>T c.(391-393)ctC>ctT p.L131L NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 131 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGCGTGGTGAGGCGGGCGC 0.781000 5 5 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39800457 39800457 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:39800457G>A ENST00000564288.1 + 37 8974 c.8197G>A c.(8197-8199)Gac>Aac p.D2733N MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D2770N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.D2738N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.D1173N|MACF1_ENST00000317713.7_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2738 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) AGGAATTGTTGACATATTTAG 0.373000 11 76 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:38463709G>A ENST00000373016.3 - 4 595 c.427C>T c.(427-429)Ccc>Tcc p.P143S FHL3_ENST00000485803.1_5'UTR NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 143 LIM zinc-binding 2. muscle organ development zinc ion binding p.P143S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622000 4 180 0 0 1 0 0 MAD2L2 10459 broad.mit.edu 37 1 11737618 11737618 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:11737618G>C ENST00000235310.3 - 6 1141 c.213C>G c.(211-213)gtC>gtG p.V71V MAD2L2_ENST00000376692.4_Silent_p.V71V|MAD2L2_ENST00000376667.3_Silent_p.V71V|MAD2L2_ENST00000376672.1_Silent_p.V71V|MAD2L2_ENST00000376669.5_Silent_p.V71V Q9UI95 MD2L2_HUMAN MAD2 mitotic arrest deficient-like 2 (yeast) 71 HORMA.|Mediates interaction with REV1 and REV3L and homodimerization. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGAGTGGCTTGACGCAGTGCA 0.607000 DNA polymerases (catalytic subunits) 31 53 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31954743 31954743 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:31954743G>A ENST00000357886.4 - 13 1659 c.1506C>T c.(1504-1506)ctC>ctT p.L502L CDK5RAP1_ENST00000346416.2_Silent_p.L488L|CDK5RAP1_ENST00000473997.1_Silent_p.L398L|CDK5RAP1_ENST00000544843.1_3'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.L411L Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 502 CDK5R1-binding. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 AGATAGTGATGAGTTCCTCCA 0.443000 68 74 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26895340 26895340 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:26895340G>T ENST00000407690.1 - 9 1342 c.1059C>A c.(1057-1059)ttC>ttA p.F353L TFIP11_ENST00000407148.1_Missense_Mutation_p.F353L|TFIP11_ENST00000407431.1_Missense_Mutation_p.F353L|TFIP11_ENST00000405938.1_Missense_Mutation_p.F353L NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 353 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CCAGCTCGTGGAAGAGGTTGA 0.597000 20 113 2.70639e-06 2.79498e-06 1 1 0 ARMC12 221481 broad.mit.edu 37 6 35715175 35715175 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:35715175G>A ENST00000373866.3 + 4 604 c.582G>A c.(580-582)ttG>ttA p.L194L ARMC12_ENST00000288065.2_Silent_p.L221L|ARMC12_ENST00000373869.3_Silent_p.L194L Q5T9G4 CF081_HUMAN armadillo repeat containing 12 194 binding TGCCTGCCTTGATGGAGATCC 0.587000 33 41 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133166179 133166179 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:133166179G>A ENST00000302334.2 + 2 597 c.508G>A c.(508-510)Gaa>Aaa p.E170K BFSP2-AS1_ENST00000515542.1_RNA NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 170 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 GGCAGTCTTGGAAAATGCCCG 0.517000 16 23 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160160734 160160734 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:160160734G>A ENST00000368079.3 + 1 450 c.175G>A c.(175-177)Gag>Aag p.E59K CASQ1_ENST00000368078.3_Missense_Mutation_p.E65K NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 65 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGAAGTATGAGGTGCTGGC 0.522000 16 47 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482801 76482801 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:76482801C>T ENST00000307431.8 + 7 1262 c.877C>T c.(877-879)Cat>Tat p.H293Y CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H293Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H269Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H297Y|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 294 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACACAGGCATCATTTCCATGC 0.423000 8 28 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151749346 151749346 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:151749346G>C ENST00000535741.1 - 30 5630 c.5157C>G c.(5155-5157)ttC>ttG p.F1719L LRBA_ENST00000507224.1_Missense_Mutation_p.F1719L|LRBA_ENST00000510413.1_Missense_Mutation_p.F1719L|LRBA_ENST00000357115.3_Missense_Mutation_p.F1719L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1719 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CAAAAGATCTGAACTGCACGG 0.478000 15 61 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142810 5142810 + RNA SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:5142810C>T ENST00000498233.1 - 0 588 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGGGCCATTCAGGGGTCTTC 0.393000 31 44 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49323707 49323707 + Nonsense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:49323707G>C ENST00000351842.4 - 15 1891 c.1883C>G c.(1882-1884)tCa>tGa p.S628* USP4_ENST00000265560.4_Nonsense_Mutation_p.S675* NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 675 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TTCTGTTTCTGAAAGCTGCTC 0.443000 22 73 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66394062 66394062 + Missense_Mutation SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:66394062T>C ENST00000310137.4 + 3 2072 c.1933T>C c.(1933-1935)Tac>Cac p.Y645H RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 645 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 CCATTCCGATTACGCACGCTA 0.597000 11 79 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745565 140745565 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:140745565C>T ENST00000518069.1 + 1 1668 c.1668C>T c.(1666-1668)aaC>aaT p.N556N PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCAGAACGACAATACGC 0.612000 73 210 0 0 1 0 0 RNF157 114804 broad.mit.edu 37 17 74169827 74169827 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:74169827C>T ENST00000269391.6 - 3 384 c.252G>A c.(250-252)ctG>ctA p.L84L RNF157_ENST00000319945.6_Silent_p.L84L NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 84 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) CCAGGCTTCTCAGAGTCTTCA 0.557000 6 39 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84775483 84775483 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:84775483G>C ENST00000389394.3 + 8 1395 c.1258G>C c.(1258-1260)Gag>Cag p.E420Q DNAH6_ENST00000398278.2_Missense_Mutation_p.E420Q|DNAH6_ENST00000237449.6_Missense_Mutation_p.E420Q NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 420 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TGGAGACTCTGAGAAAATGAC 0.378000 26 106 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73739924 73739924 + Silent SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:73739924C>A ENST00000200181.3 + 26 3280 c.3093C>A c.(3091-3093)ggC>ggA p.G1031G ITGB4_ENST00000450894.3_Silent_p.G1031G|ITGB4_ENST00000579662.1_Silent_p.G1031G|ITGB4_ENST00000449880.2_Silent_p.G1031G|ITGB4_ENST00000339591.3_Silent_p.G1031G NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1031 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CACAGGATGGCACCGCGCAGG 0.692000 4 18 0.00024832 0.000253134 1 1 0 BRCA2 675 broad.mit.edu 37 13 32914214 32914214 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr13:32914214C>G ENST00000544455.1 + 11 5949 c.5722C>G c.(5722-5724)Cta>Gta p.L1908V BRCA2_ENST00000380152.3_Missense_Mutation_p.L1908V NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1908 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCATAACTCTCTAGATAATGA 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 50 80 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648820 130648820 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:130648820G>T ENST00000539839.1 + 1 1817 c.1235G>T c.(1234-1236)cGg>cTg p.R412L FZD10_ENST00000229030.4_Missense_Mutation_p.G445W NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 84 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GGTGCGTATCGGGCTCTTCTC 0.587000 26 45 7.92952e-12 8.42345e-12 1 1 0 PPP6R3 55291 broad.mit.edu 37 11 68355440 68355440 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:68355440G>A ENST00000393799.2 + 16 1945 c.1678G>A c.(1678-1680)Gac>Aac p.D560N PPP6R3_ENST00000393800.2_Missense_Mutation_p.D560N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D531N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D525N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D480N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D328N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D560N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D480N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D554N|PPP6R3_ENST00000265637.4_Intron Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 560 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CAATTTTATTGACCAGTTTGG 0.413000 54 221 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885978 60885978 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:60885978G>A ENST00000252999.3 - 74 10327 c.10261C>T c.(10261-10263)Cgg>Tgg p.R3421W NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3421 Laminin G-like 4. 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) CGGCCAGGCCGGGAGCGCTGG 0.697000 3 26 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688292 60688292 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:60688292G>A ENST00000335712.6 - 4 1982 c.1755C>T c.(1753-1755)tgC>tgT p.C585C BCL11A_ENST00000356842.4_Silent_p.C585C|BCL11A_ENST00000358510.4_Silent_p.C551C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.C551C|BCL11A_ENST00000537768.1_Silent_p.C254C|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 585 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) AGTCTTCGTCGCAAGTGTCCC 0.682000 T IGH@ B-CLL 10 35 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51834638 51834638 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:51834638C>G ENST00000251076.5 - 9 1284 c.997G>C c.(997-999)Gaa>Caa p.E333Q DMXL2_ENST00000449909.3_Missense_Mutation_p.E333Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.E333Q NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 333 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) GGCATTAATTCAGCATGAGTT 0.393000 21 91 0 0 1 0 0 GRAMD3 65983 broad.mit.edu 37 5 125824572 125824572 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:125824572G>A ENST00000285689.3 + 13 1706 c.1245G>A c.(1243-1245)gtG>gtA p.V415V GRAMD3_ENST00000543198.1_3'UTR|GRAMD3_ENST00000544396.1_Silent_p.V311V|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000513040.1_Silent_p.V430V|GRAMD3_ENST00000502348.1_Silent_p.V306V|GRAMD3_ENST00000515200.1_Silent_p.V393V|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000542322.1_Silent_p.V423V|GRAMD3_ENST00000511134.1_Silent_p.V399V NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 415 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) CTAACATAGTGAAATTAGAAA 0.458000 19 52 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110424514 110424514 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:110424514G>A ENST00000378402.5 + 20 2210 c.2106G>A c.(2104-2106)caG>caA p.Q702Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 702 immune response cytosol|extracellular space|integral to membrane receptor activity p.Q704H(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACAGAGGGCAGAAGACAGCTG 0.408000 HNSCC(38;0.096) 4 59 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1274169 1274169 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:1274169C>T ENST00000447027.1 + 33 15243 c.15185C>T c.(15184-15186)tCg>tTg p.S5062L MUC5B_ENST00000529681.1_Missense_Mutation_p.S5059L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5059 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) ATCAAAGTGTCGGACCCGAGC 0.642000 13 39 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141297808 141297808 + Missense_Mutation SNP A A C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:141297808A>C ENST00000389328.4 - 13 2188 c.2174T>G c.(2173-2175)tTc>tGc p.F725C TRAPPC9_ENST00000438773.2_Missense_Mutation_p.F627C|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.F618C NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 627 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 GAGAGACTCGAACTCCACTCC 0.572000 12 61 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008399 41008399 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:41008399C>G ENST00000352632.3 + 10 1274 c.1188C>G c.(1186-1188)atC>atG p.I396M SPTBN4_ENST00000598249.1_Missense_Mutation_p.I396M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.I396M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.I396M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.I396M Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 396 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGTGGCATCTGGGATATTG 0.572000 17 67 0 0 1 0 0 DCTN5 84516 broad.mit.edu 37 16 23678372 23678372 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:23678372C>G ENST00000300087.2 + 6 607 c.456C>G c.(454-456)ctC>ctG p.L152L DCTN5_ENST00000563998.1_3'UTR NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 152 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) CCCCAGGACTCTTCTCAGGGG 0.478000 32 53 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884216 53884216 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:53884216C>A ENST00000467003.1 + 4 477 c.276C>A c.(274-276)caC>caA p.H92Q ZNF525_ENST00000474037.1_Missense_Mutation_p.H128Q|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 AATATGATCACAGGCATGCTG 0.373000 17 254 6.94344e-10 7.27793e-10 1 1 0 EP300 2033 broad.mit.edu 37 22 41525909 41525909 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:41525909C>T ENST00000263253.7 + 5 2403 c.1184C>T c.(1183-1185)tCt>tTt p.S395F NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 395 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CACTGTGCATCTTCTCGACAA 0.358000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 26 37 0 0 1 0 0 NACC1 112939 broad.mit.edu 37 19 13248163 13248163 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:13248163G>A ENST00000292431.4 + 4 1325 c.1199G>A c.(1198-1200)cGg>cAg p.R400Q NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 400 BEN. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 GTCCTACTGCGGCGGCTCCTG 0.652000 12 88 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40122364 40122364 + Nonsense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:40122364C>A ENST00000261435.6 + 9 3049 c.2633C>A c.(2632-2634)tCa>tAa p.S878* NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 878 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GACAAAAACTCATTCAACATT 0.393000 11 39 4.68919e-08 4.88264e-08 1 1 0 C2CD2 25966 broad.mit.edu 37 21 43334726 43334726 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr21:43334726G>A ENST00000380486.3 - 6 1066 c.825C>T c.(823-825)ctC>ctT p.L275L C2CD2_ENST00000329623.7_Silent_p.L120L NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 275 C2. cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CGGGCTCGCTGAGCAGCAAGA 0.627000 10 29 0 0 1 0 0 RND1 27289 broad.mit.edu 37 12 49251975 49251975 + Nonsense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:49251975G>C ENST00000309739.5 - 5 633 c.503C>G c.(502-504)tCa>tGa p.S168* NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 168 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GGTGAAAGCTGAGCCTTCCAG 0.552000 11 53 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196235184 196235184 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:196235184C>A ENST00000397537.2 - 3 375 c.219G>T c.(217-219)ttG>ttT p.L73F NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 ATAAAATATTCAATTCCATTG 0.368000 24 49 2.21704e-12 2.36309e-12 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 11 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15974947 15974947 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:15974947C>G ENST00000268712.3 - 30 4185 c.3928G>C c.(3928-3930)Gat>Cat p.D1310H NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.D1326H NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1310 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TTAAGGCCATCTTCAAAGCTT 0.408000 23 79 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906935 129906935 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:129906935C>T ENST00000368654.3 - 13 3544 c.3169G>A c.(3169-3171)Gag>Aag p.E1057K MKI67_ENST00000368653.3_Missense_Mutation_p.E697K NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1057 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTGCTGGCTCTCTGTGCGTG 0.547000 64 406 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67263589 67263589 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:67263589C>T ENST00000258201.4 - 22 3692 c.3445G>A c.(3445-3447)Gac>Aac p.D1149N NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1149 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGCACCAGGTCATCTCCGAGC 0.597000 20 60 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93619752 93619752 + Missense_Mutation SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:93619752T>C ENST00000394236.3 - 7 939 c.623A>G c.(622-624)aAg>aGg p.K208R PROS1_ENST00000407433.1_Missense_Mutation_p.K77R NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 208 EGF-like 3; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AATGCTTGGCTTCAAAGAGCA 0.378000 3 57 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63534365 63534365 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:63534365C>G ENST00000307078.5 - 5 1469 c.1156G>C c.(1156-1158)Gag>Cag p.E386Q CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.E386Q NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 386 Interaction with GSK3B (By similarity). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 TGGCGGCTCTCCAACTCCAGC 0.622000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 4 47 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76873178 76873178 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:76873178C>G ENST00000409709.3 + 13 1628 c.1356C>G c.(1354-1356)ctC>ctG p.L452L MYO7A_ENST00000409893.1_Silent_p.L452L|MYO7A_ENST00000409619.2_Silent_p.L441L|MYO7A_ENST00000458637.2_Silent_p.L452L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 452 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TTGAGCAGCTCTGCATCAACT 0.587000 4 54 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59872529 59872529 + Silent SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:59872529C>A ENST00000361421.1 - 2 361 c.141G>T c.(139-141)ccG>ccT p.P47P NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 47 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGTCCTGGCTCGGCTCTGTCA 0.388000 4 43 0.00024832 0.000253134 1 1 0 TRAF2 7186 broad.mit.edu 37 9 139815502 139815502 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:139815502G>C ENST00000359662.3 + 9 1174 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q TRAF2_ENST00000247668.2_Missense_Mutation_p.E325Q|TRAF2_ENST00000536468.1_Missense_Mutation_p.E325Q Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 325 MATH. activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) GCAGCAGCTGGAGAGGAGCAT 0.617000 5 20 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54930822 54930822 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:54930822C>G ENST00000293373.6 + 29 3247 c.3168C>G c.(3166-3168)ctC>ctG p.L1056L NCKAP1L_ENST00000545638.2_Silent_p.L1006L NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1056 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AAACTCACCTCAAGGAATTTC 0.413000 9 42 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20020931 20020931 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:20020931G>C ENST00000294543.6 - 15 1737 c.1496C>G c.(1495-1497)tCt>tGt p.S499C TMCO4_ENST00000375122.2_Missense_Mutation_p.S459C|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.S499C NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 499 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) ACTCACCACAGAGGTCAGGTC 0.642000 9 62 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36962439 36962439 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:36962439T>A ENST00000300105.6 - 3 1378 c.397A>T c.(397-399)Aac>Tac p.N133Y NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 133 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 AGGATGATGTTGTGTCGAGTT 0.567000 26 48 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83848844 83848844 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:83848844C>T ENST00000349129.2 + 21 5343 c.5083C>T c.(5083-5085)Cag>Tag p.Q1695* DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1676*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1686* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1695 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TAATCTAATTCAGCAGTACAA 0.348000 14 54 0 0 1 0 0 DDIT3 1649 broad.mit.edu 37 12 57910863 57910863 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:57910863G>A ENST00000551116.1 - 4 575 c.308C>T c.(307-309)cCt>cTt p.P103L DDIT3_ENST00000346473.3_Missense_Mutation_p.P80L|DDIT3_ENST00000547303.1_Missense_Mutation_p.P80L|DDIT3_ENST00000552740.1_Missense_Mutation_p.P103L NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1 NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 80 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding EWSR1/DDIT3(45)|FUS/DDIT3(631) central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1) 16 TGGAGAGTGAGGGCTCTGGGA 0.552000 T FUS liposarcoma 17 85 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32046826 32046826 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:32046826G>A ENST00000375244.3 - 11 4560 c.4359C>T c.(4357-4359)tcC>tcT p.S1453S TNXB_ENST00000375247.2_Silent_p.S1453S P22105 TENX_HUMAN tenascin XB 1540 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 CGCCCACGGCGGACACCGGGC 0.662000 37 40 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103137012 103137012 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:103137012C>T ENST00000428762.1 - 56 9313 c.9154G>A c.(9154-9156)Gaa>Aaa p.E3052K RELN_ENST00000343529.5_Missense_Mutation_p.E3052K|RELN_ENST00000424685.2_Missense_Mutation_p.E3052K|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3052 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) GGATTGATTTCTGCTCCACCA 0.453000 36 68 0 0 1 0 0 GPC1 2817 broad.mit.edu 37 2 241404541 241404541 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:241404541C>T ENST00000264039.2 + 7 1430 c.1182C>T c.(1180-1182)atC>atT p.I394I NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 394 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) ACTTCTGGATCAGCCTCCCAG 0.672000 5 9 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72249948 72249948 + Silent SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:72249948C>A ENST00000441391.2 + 7 1749 c.537C>A c.(535-537)atC>atA p.I179I TTYH2_ENST00000529107.1_Silent_p.I479I|TTYH2_ENST00000269346.4_Silent_p.I500I NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 500 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TGCCACTAATCGGGAGAGCCT 0.567000 24 101 1.66031e-10 1.749e-10 1 1 0 CCDC88B 283234 broad.mit.edu 37 11 64111688 64111688 + Missense_Mutation SNP G G C rs139020637 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:64111688G>C ENST00000356786.5 + 14 1719 c.1675G>C c.(1675-1677)Gag>Cag p.E559Q CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 559 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACAGGAGGCAGAGAGTCCCCT 0.642000 42 68 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409956 13409956 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:13409956G>A ENST00000360228.5 - 19 2490 c.2491C>T c.(2491-2493)Cgc>Tgc p.R831C CACNA1A_ENST00000573710.2_Missense_Mutation_p.R832C 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 832 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) TTGTTGTTGCGGTTCTCCTGC 0.687000 4 49 0 0 1 0 0 IKZF5 64376 broad.mit.edu 37 10 124755678 124755678 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:124755678C>T ENST00000368886.5 - 4 468 c.148G>A c.(148-150)Gat>Aat p.D50N PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) CCATTTTGATCACCATCTGTT 0.363000 12 95 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245019335 245019335 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:245019335C>G ENST00000444376.2 - 11 2215 c.1981G>C c.(1981-1983)Gaa>Caa p.E661Q HNRNPU_ENST00000283179.9_Missense_Mutation_p.E680Q NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 680 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TGTTTCTTTTCTGGTGGAAGA 0.403000 32 183 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57910380 57910380 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:57910380C>G ENST00000574161.1 + 3 431 c.312C>G c.(310-312)atC>atG p.I104M MYZAP_ENST00000267853.5_Missense_Mutation_p.I104M|GCOM1_ENST00000396180.1_Missense_Mutation_p.I104M|GCOM1_ENST00000572390.1_Missense_Mutation_p.I104M|GCOM1_ENST00000380569.2_Missense_Mutation_p.I104M|GCOM1_ENST00000587652.1_Missense_Mutation_p.I104M|GCOM1_ENST00000380568.3_Missense_Mutation_p.I104M|GCOM1_ENST00000380560.2_Missense_Mutation_p.I104M|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.I104M|GCOM1_ENST00000380561.2_Missense_Mutation_p.I104M NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 104 intracellular signal transduction extrinsic to internal side of plasma membrane|I band p.I104M(1) endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TGAACTACATCAAAGATGTGA 0.418000 14 70 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31483550 31483550 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:31483550C>T ENST00000322054.5 + 4 962 c.677C>T c.(676-678)aCg>aTg p.T226M EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 226 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CAGATCGAGACGCAGCAGCTG 0.552000 30 31 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165550784 165550784 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:165550784C>G ENST00000375458.2 - 11 3339 c.3118G>C c.(3118-3120)Gat>Cat p.D1040H COBLL1_ENST00000194871.6_Missense_Mutation_p.D1145H|COBLL1_ENST00000409184.3_Missense_Mutation_p.D1078H|COBLL1_ENST00000392717.2_Missense_Mutation_p.D1116H|COBLL1_ENST00000342193.4_Missense_Mutation_p.D1078H NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 1116 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GTTACCTTATCAGACACACCA 0.398000 26 90 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138958776 138958776 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:138958776G>A ENST00000473989.3 + 11 1929 c.1929G>A c.(1927-1929)gaG>gaA p.E643E UBN2_ENST00000288561.8_Silent_p.E560E NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CTTTTATGGAGACAGAAGTGA 0.358000 5 54 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26343235 26343235 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr13:26343235G>A ENST00000381655.2 + 26 2578 c.2436G>A c.(2434-2436)gtG>gtA p.V812V ATP8A2_ENST00000255283.8_Silent_p.V772V|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 772 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGAAGCGGGTGAAGGCCATCA 0.547000 35 88 0 0 1 0 0 EMC8 10328 broad.mit.edu 37 16 85832890 85832890 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:85832890C>T ENST00000253457.3 - 1 256 c.12G>A c.(10-12)gtG>gtA p.V4V EMC8_ENST00000435200.2_Silent_p.V4V NM_006067.4 NP_006058.1 ER membrane protein complex subunit 8 TGGTCAGTTTCACCCCGGGCA 0.731000 8 7 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930727 122930727 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:122930727C>G ENST00000534624.1 - 5 850 c.574G>C c.(574-576)Gaa>Caa p.E192Q HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.E192Q|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.E173Q|HSPA8_ENST00000453788.2_Missense_Mutation_p.E192Q|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.E192Q NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 192 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ACGTTTCTTTCTGCTCCAACC 0.388000 23 24 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381590 156381590 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:156381590C>A ENST00000274532.2 - 2 292 c.236G>T c.(235-237)aGa>aTa p.R79I TIMD4_ENST00000407087.3_Missense_Mutation_p.R79I NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 79 Ig-like V-type. 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) TGCTGACTTTCTTGAGGTCAC 0.527000 17 87 3.41278e-10 3.58911e-10 1 1 0 PTPRH 5794 broad.mit.edu 37 19 55715224 55715224 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:55715224G>A ENST00000376350.3 - 5 834 c.812C>T c.(811-813)tCa>tTa p.S271L PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 271 Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CGTATACAATGACCCGGGTCC 0.507000 81 170 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74943792 74943792 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:74943792C>T ENST00000262144.6 - 15 1543 c.1413G>A c.(1411-1413)caG>caA p.Q471Q NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 471 RWD. breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GCTTCACTTTCTGCAGGGCTG 0.488000 11 26 0 0 1 0 0 TMEM30A 55754 broad.mit.edu 37 6 75994263 75994263 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:75994263G>A ENST00000230461.6 - 1 421 c.92C>T c.(91-93)aCg>aTg p.T31M TMEM30A_ENST00000475111.2_Missense_Mutation_p.T31M NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 31 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTTGAAGGCCGTGTTATCCGG 0.582000 4 172 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49104486 49104486 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:49104486G>A ENST00000263266.3 - 5 1506 c.1317C>T c.(1315-1317)ctC>ctT p.L439L NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 439 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) ACAGATAGCGGAGGCGGTGGG 0.706000 7 22 0 0 1 0 0 DUSP11 8446 broad.mit.edu 37 2 73989898 73989898 + Missense_Mutation SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:73989898A>G ENST00000272444.3 - 9 1065 c.1024T>C c.(1024-1026)Tct>Cct p.S342P DUSP11_ENST00000480948.1_5'UTR NM_003584.2 NP_003575.2 O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 295 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 ACATTCCAAGAATACCTCCTG 0.473000 27 50 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138958780 138958780 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:138958780G>A ENST00000473989.3 + 11 1933 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K UBN2_ENST00000288561.8_Missense_Mutation_p.E562K NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TATGGAGACAGAAGTGAAGCC 0.353000 5 56 0 0 1 0 0 POFUT1 23509 broad.mit.edu 37 20 30804815 30804815 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:30804815G>A ENST00000375730.3 + 5 596 c.547G>A c.(547-549)Gag>Aag p.E183K POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375749.3_Intron NM_172236.1 NP_758436.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 0 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTCTAGGCGTGAGAATCACTC 0.463000 22 256 0 0 1 0 0 KLHL21 9903 broad.mit.edu 37 1 6655551 6655551 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:6655551C>T ENST00000377663.3 - 3 1677 c.1494G>A c.(1492-1494)atG>atA p.M498I KLHL21_ENST00000467612.1_Missense_Mutation_p.M131I|KLHL21_ENST00000463043.1_Missense_Mutation_p.M131I|KLHL21_ENST00000377658.4_Missense_Mutation_p.M498I Q9UJP4 KLH21_HUMAN kelch-like family member 21 498 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule p.M498I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) TTACCTGATTCATGGACGGGA 0.552000 17 46 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572359 38572359 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:38572359G>A ENST00000222345.6 + 3 663 c.154G>A c.(154-156)Gag>Aag p.E52K NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 52 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) GCCTCTTGGCGAGAGCCCGgc 0.711000 13 23 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69961739 69961739 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:69961739G>C ENST00000358913.5 + 18 4135 c.3647G>C c.(3646-3648)aGa>aCa p.R1216T MYPN_ENST00000354393.2_Missense_Mutation_p.R941T|MYPN_ENST00000540630.1_Missense_Mutation_p.R1216T NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1216 Ig-like 5.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CCTTGCACCAGAGAGAGGATC 0.567000 13 90 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877132 39877132 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:39877132G>A ENST00000530275.1 + 1 982 c.787G>A c.(787-789)Gac>Aac p.D263N MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 263 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) TTGCCCTGATGACCCACAGCC 0.512000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 145 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228556459 228556459 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:228556459G>A ENST00000570156.2 + 100 22749 c.22675G>A c.(22675-22677)Gac>Aac p.D7559N OBSCN_ENST00000422127.1_Missense_Mutation_p.D6602N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D4236N NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6602 Fibronectin type-III 4. 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) TGCCCGGGAAGACATTAAAAT 0.577000 86 169 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69962593 69962593 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:69962593C>T ENST00000355303.5 + 8 1190 c.885C>T c.(883-885)ttC>ttT p.F295F ANO1_ENST00000538023.1_Silent_p.F295F|ANO1_ENST00000316296.5_Silent_p.F267F|ANO1_ENST00000531349.1_Silent_p.F30F|ANO1_ENST00000398543.2_Silent_p.F179F|ANO1_ENST00000530676.1_Silent_p.F179F NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 295 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 ACGTCGAGTTCAACGACAGAA 0.532000 8 22 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130911905 130911905 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:130911905G>A ENST00000540948.1 + 1 174 c.101G>A c.(100-102)aGc>aAc p.S34N LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000373013.2_Missense_Mutation_p.S34N|LCN2_ENST00000372998.1_Missense_Mutation_p.S34N|LCN2_ENST00000373017.1_Missense_Mutation_p.S34N|LCN2_ENST00000277480.2_Missense_Mutation_p.S34N P80188 NGAL_HUMAN lipocalin 2 34 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 CCACCTCTGAGCAAGGTCCCT 0.647000 32 27 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874771 10874771 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:10874771G>A ENST00000379491.4 - 5 1125 c.978C>T c.(976-978)ttC>ttT p.F326F 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) 326 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) GTTTGTTGGTGAAATCAAAGC 0.463000 59 117 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13839478 13839478 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:13839478G>C ENST00000265104.4 - 35 5973 c.5869C>G c.(5869-5871)Cca>Gca p.P1957A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1957 AAA 1 (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) TCTGTAAGTGGAGTTATTACA 0.418000 Kartagener syndrome 15 71 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123210187 123210187 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:123210187C>T ENST00000371160.1 + 26 2829 c.2539C>T c.(2539-2541)Cag>Tag p.Q847* STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q778*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q847*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q847*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q847*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q847* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 847 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TCCAGATGGTCAGCAAGAGGA 0.328000 36 25 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62751598 62751598 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:62751598G>A ENST00000383710.4 - 2 852 c.503C>T c.(502-504)aCc>aTc p.T168I CADPS_ENST00000283269.9_Missense_Mutation_p.T168I|CADPS_ENST00000357948.3_Missense_Mutation_p.T168I|CADPS_ENST00000490353.2_Missense_Mutation_p.T168I NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 168 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CATGATCTGGGTTTCCCCATT 0.473000 54 98 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55398353 55398353 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:55398353C>T ENST00000341048.4 - 11 1842 c.1691G>A c.(1690-1692)cGg>cAg p.R564Q ANKRD55_ENST00000434982.2_Missense_Mutation_p.R276Q|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R521Q NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 563 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) TAGGTTGTTCCGAGTGAAAGG 0.368000 11 20 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884244 53884244 + Missense_Mutation SNP T T G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:53884244T>G ENST00000467003.1 + 4 505 c.304T>G c.(304-306)Tat>Gat p.Y102D ZNF525_ENST00000474037.1_Missense_Mutation_p.Y138D|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 GCCTATTAAATATCAGCTTGG 0.383000 4 262 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92825209 92825209 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:92825209C>G ENST00000394468.2 - 8 1284 c.1207G>C c.(1207-1209)Gaa>Caa p.E403Q HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E426Q|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.M382I|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E391Q NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 403 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 AGAGCATCTTCATGGCCTGAA 0.358000 24 85 0 0 1 0 0 SLC1A1 6505 broad.mit.edu 37 9 4544644 4544644 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:4544644G>C ENST00000262352.3 + 2 405 c.169G>C c.(169-171)Gaa>Caa p.E57Q NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 57 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) TTTTCCTGGAGAAATTCTAAT 0.383000 66 70 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75559947 75559947 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:75559947G>A ENST00000398706.2 + 22 5061 c.4844G>A c.(4843-4845)gGa>gAa p.G1615E ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1428E|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1610E|RP11-574K11.31_ENST00000603027.1_Intron NM_015037.3 NP_055852.2 zinc finger, SWIM-type containing 8 TGGGGCCAGGGAACAGGTGAA 0.597000 7 41 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93767898 93767898 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:93767898C>G ENST00000265990.6 + 26 3987 c.3679C>G c.(3679-3681)Cca>Gca p.P1227A BTAF1_ENST00000544642.1_Missense_Mutation_p.P55A NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1227 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) TCCAGACCCTCCAAACATGTC 0.323000 24 165 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155451157 155451157 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:155451157G>A ENST00000368346.3 - 3 2143 c.1504C>T c.(1504-1506)Cag>Tag p.Q502* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q502* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 502 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTGTCTTGCTGAATGCATGTT 0.368000 53 91 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60042371 60042371 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:60042371C>T ENST00000397786.2 - 20 4916 c.4840G>A c.(4840-4842)Gaa>Aaa p.E1614K NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1614 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGGTACCTTTCAGACACATCA 0.418000 6 38 0 0 1 0 0 MMS19 64210 broad.mit.edu 37 10 99228753 99228753 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:99228753G>C ENST00000438925.2 - 12 1368 c.1033C>G c.(1033-1035)Ctt>Gtt p.L345V MMS19_ENST00000355839.6_Missense_Mutation_p.L302V|MMS19_ENST00000370782.2_Missense_Mutation_p.L345V|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000327238.10_Intron NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) 345 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) AAGGAGTCAAGGAGGTCCTCA 0.602000 Direct reversal of damage 4 9 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870588 129870588 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:129870588G>C ENST00000373425.3 - 2 1040 c.423C>G c.(421-423)ctC>ctG p.L141L RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 141 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 TCTCGTGCAGGAGCTGCATGT 0.617000 8 35 0 0 1 0 0 MYADM 91663 broad.mit.edu 37 19 54377146 54377146 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:54377146C>T ENST00000391769.2 + 3 643 c.363C>T c.(361-363)ccC>ccT p.P121P MYADM_ENST00000391771.1_Silent_p.P121P|MYADM_ENST00000336967.3_Silent_p.P121P|MYADM_ENST00000391770.4_Silent_p.P121P|MYADM_ENST00000391768.2_Silent_p.P121P NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 121 MARVEL 1. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) TCATCTACCCCACCACCTATG 0.652000 27 83 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110428003 110428003 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:110428003G>T ENST00000506538.2 + 1 590 c.17G>T c.(16-18)gGc>gTc p.G6V WDR36_ENST00000513710.2_Missense_Mutation_p.G6V NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 6 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TGCACTGAGGGCAGTCTCCGG 0.592000 17 68 6.94344e-10 7.27793e-10 1 1 0 GH2 2689 broad.mit.edu 37 17 61957719 61957719 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:61957719C>T ENST00000423893.2 - 5 677 c.616G>A c.(616-618)Gtg>Atg p.V206M GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Missense_Mutation_p.V191M|GH2_ENST00000456543.2_Silent_p.S204S P01242 SOM2_HUMAN growth hormone 2 206 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 CGGCACTGCACGATGCGCAGG 0.592000 14 82 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25928587 25928587 + Missense_Mutation SNP G G A rs3891772 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:25928587G>A ENST00000356865.6 - 17 3449 c.3338C>T c.(3337-3339)tCt>tTt p.S1113F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1113 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGTAGATGCAGAGAAGCCACA 0.498000 3 38 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103550655 103550655 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:103550655C>T ENST00000361464.3 - 14 2847 c.2452G>A c.(2452-2454)Gag>Aag p.E818K MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.E751K|MGEA5_ENST00000439817.1_Missense_Mutation_p.E765K NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 818 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TGTATTACCTCAGCCTCAGAG 0.308000 41 122 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154401737 154401737 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:154401737G>C ENST00000368485.3 + 2 588 c.151G>C c.(151-153)Gag>Cag p.E51Q IL6R_ENST00000344086.4_Missense_Mutation_p.E51Q NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 51 Ig-like C2-type. acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCCGGGGGTAGAGCCGGAAGA 0.642000 17 54 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152536438 152536438 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:152536438G>C ENST00000397345.3 - 31 3343 c.3141C>G c.(3139-3141)atC>atG p.I1047M NEB_ENST00000603639.1_Missense_Mutation_p.I1047M|NEB_ENST00000409198.1_Missense_Mutation_p.I1047M|NEB_ENST00000172853.10_Missense_Mutation_p.I1047M|NEB_ENST00000427231.2_Missense_Mutation_p.I1047M|NEB_ENST00000604864.1_Missense_Mutation_p.I1047M NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 1047 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) GCACCTCACTGATATTGTAGG 0.428000 16 36 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612791 53612791 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:53612791G>A ENST00000455735.2 - 7 971 c.651C>T c.(649-651)gtC>gtT p.V217V ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.V169V|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.V156V|ZNF415_ENST00000421033.1_Silent_p.V181V|ZNF415_ENST00000448501.1_Silent_p.V217V|ZNF415_ENST00000243643.4_Silent_p.V169V|ZNF415_ENST00000601493.1_5'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) AACCATGGTTGACAGACTTCT 0.383000 25 143 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55136180 55136180 + Translation_Start_Site SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:55136180A>T ENST00000454855.2 + 0 328 MROH7_ENST00000545244.1_Missense_Mutation_p.Q35L|MROH7_ENST00000421030.2_Missense_Mutation_p.Q467L|MROH7_ENST00000339553.5_Missense_Mutation_p.Q467L|MROH7_ENST00000409996.1_Missense_Mutation_p.Q35L|MROH7_ENST00000395690.2_Missense_Mutation_p.Q467L|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.Q467L maestro heat-like repeat family member 7 AGGCAGATCCAGGAGGAGCCA 0.642000 5 18 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72141361 72141361 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:72141361G>A ENST00000437826.2 - 2 357 c.208C>T c.(208-210)Cag>Tag p.Q70* CLPB_ENST00000294053.3_Silent_p.V150V|CLPB_ENST00000445069.2_Silent_p.V46V|CLPB_ENST00000340729.5_Silent_p.V150V|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000538039.1_Silent_p.V150V|CLPB_ENST00000542555.1_5'UTR Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 0 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CTCACCTGCTGACTTCTTGCA 0.562000 5 9 0 0 1 0 0 SNX33 257364 broad.mit.edu 37 15 75949466 75949466 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:75949466G>T ENST00000308527.5 + 2 2832 c.1635G>T c.(1633-1635)atG>atT p.M545I NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 545 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 TCAAGCACATGATGCAGAACT 0.617000 24 138 2.89027e-11 3.06514e-11 1 1 0 LACE1 246269 broad.mit.edu 37 6 108840996 108840996 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:108840996G>C ENST00000368977.4 + 12 1486 c.1300G>C c.(1300-1302)Gat>Cat p.D434H NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 434 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) ACTGATGGATGATTTGGGGCT 0.378000 45 42 0 0 1 0 0 ATAD1 84896 broad.mit.edu 37 10 89550137 89550137 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:89550137T>A ENST00000308448.7 - 4 690 c.312A>T c.(310-312)aaA>aaT p.K104N ATAD1_ENST00000541004.1_Missense_Mutation_p.K104N|ATAD1_ENST00000400215.3_Missense_Mutation_p.K46N|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Missense_Mutation_p.K104N NM_032810.2 NP_116199.2 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 104 peroxisome ATP binding|nucleoside-triphosphatase activity kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) TGACTGTGTCTTTCAGATCCG 0.373000 9 81 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83828976 83828976 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:83828976G>C ENST00000302236.5 + 4 670 c.619G>C c.(619-621)Gag>Cag p.E207Q NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 207 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) AGAAACAGATGAGTACTCCGC 0.303000 8 51 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667231 667231 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:667231C>T ENST00000266383.5 + 17 2597 c.2584C>T c.(2584-2586)Cag>Tag p.Q862* NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 862 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AGCTGGACTTCAGGCTGGCAT 0.542000 37 56 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 10 99 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75576812 75576812 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:75576812C>G ENST00000423381.1 - 21 1626 c.1503G>C c.(1501-1503)ggG>ggC p.G501G CAMK2G_ENST00000322635.3_Silent_p.G440G|CAMK2G_ENST00000322680.3_Silent_p.G469G|CAMK2G_ENST00000351293.3_Silent_p.G408G|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.G429G|CAMK2G_ENST00000305762.7_Silent_p.G442G|CAMK2G_ENST00000394762.2_Silent_p.G446G NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 471 insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) GGAAATCCATCCCCTCCACGA 0.493000 57 188 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5020636 5020636 + Missense_Mutation SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:5020636A>G ENST00000382545.3 + 2 1199 c.92A>G c.(91-93)gAc>gGc p.D31G 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) 31 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) GCCGACCACGACGACCACGAG 0.682000 10 51 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89415281 89415281 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:89415281G>A ENST00000439576.2 + 15 7527 c.7153G>A c.(7153-7155)Gaa>Aaa p.E2385K ACAN_ENST00000352105.7_Missense_Mutation_p.E2347K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2347K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2385K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2385 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGGACCATCGAAGGGGACTT 0.602000 7 89 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40646727 40646727 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:40646727G>A ENST00000298910.7 + 11 1255 c.1197G>A c.(1195-1197)agG>agA p.R399R LRRK2_ENST00000343742.2_Silent_p.R399R NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 399 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 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) CAGCTCATAGGGAAGTGATGC 0.348000 10 46 0 0 1 0 0 FBXL5 26234 broad.mit.edu 37 4 15613942 15613942 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:15613942G>A ENST00000341285.3 - 10 2070 c.1946C>T c.(1945-1947)tCa>tTa p.S649L FBXL5_ENST00000412094.2_Missense_Mutation_p.S632L|FBXL5_ENST00000382358.4_Missense_Mutation_p.S523L NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 649 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 AGGACATGCTGAAACCAAATC 0.398000 32 106 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907944 12907944 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:12907944C>T ENST00000317869.6 - 2 424 c.199G>A c.(199-201)Gta>Ata p.V67I NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCTCCTGCTACAGCAGCCCGG 0.488000 46 295 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201751631 201751631 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:201751631C>T ENST00000367296.4 + 6 2411 c.1991C>T c.(1990-1992)gCc>gTc p.A664V NAV1_ENST00000367302.1_Missense_Mutation_p.A677V|NAV1_ENST00000367297.4_Missense_Mutation_p.A664V|NAV1_ENST00000367300.3_Missense_Mutation_p.A664V|NAV1_ENST00000367295.1_Missense_Mutation_p.A273V|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.A664V NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 664 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GCTCCTGGAGCCCGTTCTAAC 0.597000 38 79 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34821842 34821842 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:34821842G>A ENST00000265109.3 + 14 1287 c.1000G>A c.(1000-1002)Gat>Aat p.D334N RAI14_ENST00000428746.2_Missense_Mutation_p.D334N|RAI14_ENST00000506376.1_Missense_Mutation_p.D326N|RAI14_ENST00000397449.1_Missense_Mutation_p.D327N|RAI14_ENST00000503673.1_Missense_Mutation_p.D334N|RAI14_ENST00000512629.1_Missense_Mutation_p.D305N|RAI14_ENST00000515799.1_Missense_Mutation_p.D337N NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 334 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CCAAGGTGCTGATAGCTTATT 0.358000 27 106 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5696311 5696311 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:5696311C>G ENST00000360614.3 - 12 2002 c.1845G>C c.(1843-1845)caG>caC p.Q615H LONP1_ENST00000540670.2_Missense_Mutation_p.Q419H|LONP1_ENST00000585374.1_Missense_Mutation_p.Q501H|LONP1_ENST00000593119.1_Missense_Mutation_p.Q551H|LONP1_ENST00000590729.1_Missense_Mutation_p.Q485H NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 615 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGTTGGCATTCTGCTCTGGGT 0.672000 10 46 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75177066 75177066 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:75177066C>G ENST00000336926.6 - 24 2478 c.2452G>C c.(2452-2454)Gag>Cag p.E818Q HIP1_ENST00000434438.2_Intron NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 818 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TCATTCACCTCCAATTTGACT 0.453000 T PDGFRB CMML 47 214 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828812 72828812 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:72828812G>A ENST00000268489.5 - 9 8441 c.7769C>T c.(7768-7770)tCt>tTt p.S2590F ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1676F NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2590 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) TATGGCCCCAGAGAGCAGCTG 0.532000 65 127 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884834 53884834 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:53884834G>A ENST00000467003.1 + 4 1095 c.894G>A c.(892-894)aaG>aaA p.K298K ZNF525_ENST00000355326.3_Silent_p.K52K|ZNF525_ENST00000474037.1_Silent_p.K334K|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 AGTGTGGCAAGACCTTTAGTC 0.393000 12 115 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43498760 43498760 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:43498760G>A ENST00000300215.3 - 10 1933 c.1476C>T c.(1474-1476)aaC>aaT p.N492N EPB42_ENST00000441366.2_Silent_p.N462N|EPB42_ENST00000540029.1_Silent_p.N384N P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 462 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) GACGGATGCCGTTGTCTTTCT 0.522000 30 166 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35288353 35288353 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:35288353G>C ENST00000408931.3 - 3 1007 c.481C>G c.(481-483)Cgc>Ggc p.R161G NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 161 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TAGGCGTAGCGGTACCTCTTG 0.577000 16 68 0 0 1 0 0 RBPJ 3516 broad.mit.edu 37 4 26430387 26430387 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:26430387G>A ENST00000342320.4 + 8 966 c.790G>A c.(790-792)Gat>Aat p.D264N RBPJ_ENST00000507561.1_Missense_Mutation_p.D243N|RBPJ_ENST00000361572.6_Missense_Mutation_p.D278N|RBPJ_ENST00000345843.3_Missense_Mutation_p.D263N|RBPJ_ENST00000355476.3_Missense_Mutation_p.D264N|RBPJ_ENST00000348160.4_Missense_Mutation_p.D265N|RBPJ_ENST00000504907.1_Missense_Mutation_p.D264N|RBPJ_ENST00000342295.1_Missense_Mutation_p.D278N Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 278 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GGATGCAGATGATCCTGTGTC 0.328000 29 35 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186330008 186330008 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:186330008C>G ENST00000367478.4 - 10 1284 c.988G>C c.(988-990)Gag>Cag p.E330Q TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.E331*(1)|p.E330*(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGCTCCACCTCTAGAAGATGA 0.323000 T NTRK1 papillary thyroid 25 40 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60038445 60038445 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:60038445C>G ENST00000397786.2 - 23 5339 c.5263G>C c.(5263-5265)Gag>Cag p.E1755Q NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1755 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CGAATACACTCTGGTCTCTAT 0.313000 11 50 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333944 70333944 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:70333944C>T ENST00000373644.4 + 2 2058 c.1849C>T c.(1849-1851)Cag>Tag p.Q617* NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 617 Sufficient for binding to genomic CpG islands. DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GAACAGCCATCAGATCTGTAA 0.463000 25 85 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145608422 145608422 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:145608422G>C ENST00000308860.6 + 3 301 c.257G>C c.(256-258)cGc>cCc p.R86P ADCK5_ENST00000532190.1_Missense_Mutation_p.R86P|ADCK5_ENST00000526231.2_3'UTR NM_174922.3 NP_777582.4 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 86 integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGCATGGGGCGCTTTGGCAGG 0.692000 6 14 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44914486 44914486 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:44914486G>A ENST00000261866.7 - 13 2392 c.2376C>T c.(2374-2376)ttC>ttT p.F792F SPG11_ENST00000535302.2_Silent_p.F792F|SPG11_ENST00000427534.2_Silent_p.F792F|SPG11_ENST00000558319.1_Silent_p.F792F NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 792 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) CTTGATGCACGAAGTCTATAG 0.279000 6 80 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150310665 150310665 + RNA SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:150310665G>A ENST00000520773.1 - 0 2656 ACATTTATAGGGTTTCTCTCC 0.418000 5 24 0 0 1 0 0 WDR43 23160 broad.mit.edu 37 2 29158441 29158441 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:29158441C>T ENST00000407426.3 + 12 1548 c.1492C>T c.(1492-1494)Ccc>Tcc p.P498S NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 498 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) ATTAAGGATGCCCCTGCATAC 0.338000 24 46 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830215 231830215 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:231830215C>T ENST00000439617.2 + 2 764 c.711C>T c.(709-711)tcC>tcT p.S237S DISC1_ENST00000366636.4_Silent_p.S237S|DISC1_ENST00000537876.1_Silent_p.S237S|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.S237S|DISC1_ENST00000366633.3_Silent_p.S237S|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Silent_p.S237S|DISC1_ENST00000539444.1_Silent_p.S237S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Silent_p.S237S NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 237 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) AGGCTGAGTCCCATTGCCAGA 0.602000 27 23 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22675786 22675786 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:22675786T>A ENST00000376603.2 + 5 946 c.804T>A c.(802-804)agT>agA p.S268R RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.S192R|SPAG6_ENST00000376624.3_Missense_Mutation_p.S192R|SPAG6_ENST00000538630.1_Missense_Mutation_p.S167R O75602 SPAG6_HUMAN sperm associated antigen 6 192 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CGGCCCTCAGTGATATTGCAA 0.468000 34 74 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98744149 98744149 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:98744149G>C ENST00000286067.2 + 1 3109 c.3002G>C c.(3001-3003)aGa>aCa p.R1001T NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1001 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CGGATTCTTAGAAAATATTCC 0.468000 15 87 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110467773 110467773 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:110467773C>T ENST00000329608.6 + 8 2018 c.1627C>T c.(1627-1629)Ctg>Ttg p.L543L CSF1_ENST00000420111.2_Silent_p.L245L|CSF1_ENST00000369802.3_Silent_p.L543L|CSF1_ENST00000344188.5_Silent_p.L427L|CSF1_ENST00000369801.1_Silent_p.L427L NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 543 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGCAGCCCCCTGACTCAGGA 0.502000 15 90 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130884307 130884307 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:130884307C>T ENST00000383366.4 + 12 1413 c.1120C>T c.(1120-1122)Cga>Tga p.R374* NEK11_ENST00000511262.1_Nonsense_Mutation_p.R374*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.R374*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.R269*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.R374*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.R374*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.R374*|NEK11_ENST00000412440.2_Nonsense_Mutation_p.R226*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.R374* NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 374 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AAATAGCAAACGAATGCAAGA 0.294000 11 52 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174974 51174974 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:51174974C>G ENST00000440970.1 - 2 1299 c.868G>C c.(868-870)Gcg>Ccg p.A290P SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.A387P|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 387 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGATTAGACGCAGGACTTAAT 0.502000 15 79 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12474396 12474396 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:12474396G>C ENST00000242804.4 - 3 632 c.50C>G c.(49-51)tCt>tGt p.S17C ZNF442_ENST00000438182.1_Intron NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 ATTAGTCTGAGAGTCAGGAAG 0.488000 20 176 0 0 1 0 0 CLIC4 25932 broad.mit.edu 37 1 25124242 25124242 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:25124242G>T ENST00000374379.4 + 2 279 c.82G>T c.(82-84)Gat>Tat p.D28Y CLIC4_ENST00000497755.1_3'UTR NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 28 Required for insertion into the membrane (Probable). cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) GGCTGGCAGTGATGGTGAAAG 0.383000 32 42 5.8336e-16 6.30309e-16 1 1 0 GIMAP4 55303 broad.mit.edu 37 7 150269905 150269905 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:150269905G>C ENST00000255945.2 + 3 922 c.747G>C c.(745-747)gaG>gaC p.E249D GIMAP4_ENST00000461940.1_Missense_Mutation_p.E263D|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 249 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGAGCTGGAGAGAGAGAAAG 0.458000 18 24 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48537884 48537884 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:48537884G>C ENST00000340802.6 + 22 2373 c.2149G>C c.(2149-2151)Gag>Cag p.E717Q PFKM_ENST00000395233.2_Missense_Mutation_p.E615Q|PFKM_ENST00000312352.7_Missense_Mutation_p.E646Q|PFKM_ENST00000359794.5_Missense_Mutation_p.E646Q|PFKM_ENST00000547587.1_Missense_Mutation_p.E646Q|PFKM_ENST00000551804.1_Missense_Mutation_p.E615Q NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 646 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CCTGTACTCTGAGGAGGGGAA 0.502000 53 95 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135382962 135382962 + Splice_Site SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:135382962G>T ENST00000442011.2 + 6 785 c.e6-1 TGFBI_ENST00000305126.8_Splice_Site NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTCTGGGCAGATTGTAACTG 0.517000 35 65 6.02846e-25 6.61557e-25 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38120766 38120766 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:38120766C>T ENST00000406386.3 + 7 2458 c.2203C>T c.(2203-2205)Cgc>Tgc p.R735C NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 735 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.R735C(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGCCTCCTCTCGCAACAGAAC 0.572000 25 110 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383292 85383292 + Nonsense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:85383292C>G ENST00000258888.5 + 5 1555 c.1388C>G c.(1387-1389)tCa>tGa p.S463* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 463 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCTCAGCACTCAGGTTTGGGC 0.637000 9 23 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131763856 131763856 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:131763856G>C ENST00000372577.2 + 35 3913 c.3892G>C c.(3892-3894)Gag>Cag p.E1298Q NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1298 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGAGGTAGACGAGGATGGTGA 0.587000 14 25 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71753416 71753416 + Missense_Mutation SNP G G A rs150724610 byFrequency TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:71753416G>A ENST00000258104.3 + 12 1397 c.1120G>A c.(1120-1122)Gta>Ata p.V374I DYSF_ENST00000409366.1_Missense_Mutation_p.V375I|DYSF_ENST00000429174.2_Missense_Mutation_p.V374I|DYSF_ENST00000410020.3_Missense_Mutation_p.V406I|DYSF_ENST00000409744.1_Missense_Mutation_p.V375I|DYSF_ENST00000413539.2_Missense_Mutation_p.V405I|DYSF_ENST00000409582.3_Missense_Mutation_p.V405I|DYSF_ENST00000409651.1_Missense_Mutation_p.V406I|DYSF_ENST00000394120.2_Missense_Mutation_p.V375I|DYSF_ENST00000409762.1_Missense_Mutation_p.V405I|DYSF_ENST00000410041.1_Missense_Mutation_p.V406I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 374 C2 3. V -> L (in MMD1; uncertain pathogenicity). 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 GCCCACAGGCGTAGCCCTGCG 0.597000 67 102 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119087300 119087300 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:119087300C>G ENST00000264245.4 + 3 817 c.285C>G c.(283-285)tgC>tgG p.C95W NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 95 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCTCGCTTTGCAAGCTCTACT 0.498000 31 77 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104427720 104427720 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:104427720G>A ENST00000297579.5 + 1 779 c.502G>A c.(502-504)Gaa>Aaa p.E168K DCAF13_ENST00000519682.1_Missense_Mutation_p.E12K|DCAF13_ENST00000521716.1_Missense_Mutation_p.E12K|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521971.1_Missense_Mutation_p.E12K NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 16 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TTATGTCCGCGAAACCAAGTT 0.552000 19 20 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210334186 210334186 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:210334186T>A ENST00000537238.1 + 9 1744 c.1353T>A c.(1351-1353)ttT>ttA p.F451L SYT14_ENST00000367019.1_Missense_Mutation_p.F508L|SYT14_ENST00000472886.1_Missense_Mutation_p.F489L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.F451L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.F515L|SYT14_ENST00000422431.1_Missense_Mutation_p.F553L NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 489 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CTTTTGTCTTTCAAGTGGCCC 0.408000 29 107 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252787 124252787 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:124252787C>T ENST00000375013.2 - 1 471 c.453G>A c.(451-453)atG>atA p.M151I NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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;0.0277) CAGCCAATCCCATTATGTAAG 0.488000 18 12 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7267552 7267552 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:7267552G>C ENST00000341500.5 - 2 495 c.456C>G c.(454-456)ctC>ctG p.L152L INSR_ENST00000302850.5_Silent_p.L152L NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 152 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) CCAAGTAACAGAGCTCATTGT 0.502000 38 69 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155837928 155837928 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:155837928C>T ENST00000368324.4 + 2 460 c.207C>T c.(205-207)ctC>ctT p.L69L SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 69 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CAGAGACCCTCAGCAACAAGA 0.517000 42 46 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74080125 74080125 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:74080125C>T ENST00000607838.1 - 19 2077 c.1983G>A c.(1981-1983)aaG>aaA p.K661K EXOC7_ENST00000467929.2_Silent_p.K610K|EXOC7_ENST00000405575.4_Silent_p.K647K|EXOC7_ENST00000411744.2_Silent_p.K630K|EXOC7_ENST00000589210.1_Silent_p.K638K|EXOC7_ENST00000335146.7_Silent_p.K689K|EXOC7_ENST00000332065.5_Silent_p.K607K NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 689 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) TGACAATGGTCTTCTGGGCCT 0.582000 10 23 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30738222 30738222 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:30738222C>T ENST00000215793.8 - 6 998 c.844G>A c.(844-846)Gtg>Atg p.V282M SF3A1_ENST00000439242.1_Missense_Mutation_p.V217M NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 ACTGTTTCCACCACCACAAAA 0.537000 23 69 0 0 1 0 0 SIX5 147912 broad.mit.edu 37 19 46270406 46270406 + Missense_Mutation SNP C C T rs148645884 byFrequency TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:46270406C>T ENST00000317578.6 - 2 1192 c.811G>A c.(811-813)Gat>Aat p.D271N SIX5_ENST00000560168.1_Silent_p.*70*|AC074212.5_ENST00000559756.1_RNA NM_175875.4 NP_787071 Q8N196 SIX5_HUMAN SIX homeobox 5 271 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) GGATTCCCATCAGACTCGCTG 0.672000 10 16 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67283764 67283764 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:67283764C>A ENST00000355520.5 - 21 2731 c.2090G>T c.(2089-2091)gGg>gTg p.G697V OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 697 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 CTTGGTGGGCCCAGAGCCTGG 0.622000 6 3 2.0095e-06 2.07868e-06 1 1 0 LMO3 55885 broad.mit.edu 37 12 16753650 16753650 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:16753650C>G ENST00000320122.6 - 2 667 c.145G>C c.(145-147)Gag>Cag p.E49Q LMO3_ENST00000441439.2_Missense_Mutation_p.E49Q|LMO3_ENST00000354662.1_Missense_Mutation_p.E49Q|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000535535.1_Missense_Mutation_p.E49Q|LMO3_ENST00000534946.1_Missense_Mutation_p.E49Q|LMO3_ENST00000541295.1_Missense_Mutation_p.E67Q|LMO3_ENST00000537304.1_Missense_Mutation_p.E49Q|LMO3_ENST00000447609.1_Missense_Mutation_p.E49Q|LMO3_ENST00000261169.6_Missense_Mutation_p.E60Q|LMO3_ENST00000540445.1_Missense_Mutation_p.E49Q|LMO3_ENST00000541846.1_Missense_Mutation_p.E49Q|LMO3_ENST00000540848.1_Missense_Mutation_p.E49Q NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 49 LIM zinc-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) GAGCCCACCTCTCCCAAGCGA 0.498000 12 82 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44966653 44966653 + Splice_Site SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:44966653A>T ENST00000377967.4 + 27 3919 c.e27-1 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000479423.1_3'UTR NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CCCCCACAATAGGTATTGTCT 0.368000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 38 21 0 0 1 0 0 SERHL2 253190 broad.mit.edu 37 22 42962332 42962332 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:42962332G>C ENST00000327678.5 + 9 738 c.636G>C c.(634-636)caG>caC p.Q212H SERHL2_ENST00000407614.4_Missense_Mutation_p.Q32H|SERHL2_ENST00000340239.4_Intron|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Missense_Mutation_p.Q148H NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 212 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 ACAGAGACCAGAGGCTCGCCT 0.582000 24 106 0 0 1 0 0 SLC25A41 284427 broad.mit.edu 37 19 6427163 6427163 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:6427163C>G ENST00000321510.6 - 6 959 c.891G>C c.(889-891)caG>caC p.Q297H NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 297 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 AGCTGGCCATCTGGCCACAGG 0.647000 7 17 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965874 88965874 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:88965874C>T ENST00000333190.4 + 4 4187 c.3578C>T c.(3577-3579)tCa>tTa p.S1193L NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1193 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCTCCGGCCTCAACCGTACAG 0.502000 HNSCC(36;0.09) 26 70 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155851191 155851191 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:155851191G>A ENST00000368324.4 + 4 1441 c.1188G>A c.(1186-1188)ctG>ctA p.L396L SYT11_ENST00000539162.1_Silent_p.L89L NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 396 C2 2. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TGGGGAGGCTGATCCTGGGGG 0.587000 97 134 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38910644 38910644 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:38910644C>A ENST00000312150.4 - 2 566 c.506G>T c.(505-507)aGa>aTa p.R169I NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 169 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTACTTGAGTCTGAAATCATC 0.378000 21 50 5.45024e-15 5.86877e-15 1 1 0 CD46 4179 broad.mit.edu 37 1 207963646 207963646 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:207963646C>G ENST00000358170.2 + 13 1332 c.1176C>G c.(1174-1176)ctC>ctG p.L392L CD46_ENST00000367042.1_Silent_p.L377L|CD46_ENST00000469535.1_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000367047.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000367041.1_Silent_p.L362L|CD46_ENST00000354848.1_Intron|CD46_ENST00000357714.1_Intron NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 392 complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TTACTTCTCTCTGAGAAGGAG 0.338000 24 109 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 472996 472996 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:472996C>G ENST00000217244.3 - 9 898 c.523G>C c.(523-525)Gac>Cac p.D175H CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D39H|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D175H|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D175H NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 175 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) AAACCCCAGTCTATTAGTCGT 0.403000 22 23 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201752614 201752614 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:201752614C>T ENST00000367296.4 + 7 2858 c.2438C>T c.(2437-2439)tCa>tTa p.S813L NAV1_ENST00000367302.1_Missense_Mutation_p.S826L|NAV1_ENST00000367297.4_Missense_Mutation_p.S813L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.S813L|NAV1_ENST00000367295.1_Missense_Mutation_p.S422L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S813L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 813 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GATCTACCATCATCCAGTGAT 0.532000 134 197 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178040553 178040553 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:178040553G>A ENST00000316308.4 - 7 915 c.747C>T c.(745-747)ttC>ttT p.F249F NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 249 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) TTTCTTTAATGAAATCGTAAG 0.378000 27 46 0 0 1 0 0 PTPDC1 138639 broad.mit.edu 37 9 96827082 96827082 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:96827082G>A ENST00000375360.3 + 2 401 c.61G>A c.(61-63)Gag>Aag p.E21K NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 21 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GAATAACAGCGAGTGTGTTGC 0.363000 19 27 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65241902 65241902 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:65241902C>T ENST00000389722.3 - 22 4836 c.4783G>A c.(4783-4785)Gag>Aag p.E1595K SPTB_ENST00000389720.3_Missense_Mutation_p.E1595K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1595K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1595K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1595K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1595 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCTCAGCCTCGTCTGCATCC 0.657000 29 76 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25978935 25978935 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:25978935C>T ENST00000435504.4 - 10 1281 c.988G>A c.(988-990)Gaa>Aaa p.E330K ASXL2_ENST00000336112.4_Missense_Mutation_p.E302K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E70K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70K Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.E70Q(1)|p.E330Q(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAAGAATTCATTGTTAAGG 0.448000 23 81 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 64961105 64961105 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:64961105C>T ENST00000262138.3 + 1 80 c.78C>T c.(76-78)atC>atT p.I26I NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 26 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCATGGCCATCGCCATCGGCA 0.711000 9 27 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205990386 205990386 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:205990386C>T ENST00000406610.2 + 10 1566 c.1359C>T c.(1357-1359)ctC>ctT p.L453L PARD3B_ENST00000358768.2_Silent_p.L453L|PARD3B_ENST00000351153.1_Silent_p.L453L|PARD3B_ENST00000349953.3_Silent_p.L453L|PARD3B_ENST00000462231.1_Silent_p.L453L NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 453 PDZ 2. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TGGCCATGCTCAGGAGCACCA 0.488000 19 99 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104820372 104820372 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:104820372C>T ENST00000444739.2 - 5 1589 c.679G>A c.(679-681)Gat>Aat p.D227N CASP4_ENST00000393150.3_Missense_Mutation_p.D171N NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 227 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) AGCAGCACATCTGGTTTTTTC 0.493000 25 77 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154138908 154138908 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:154138908G>A ENST00000389740.2 - 3 1642 c.1543C>T c.(1543-1545)Ctg>Ttg p.L515L NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 515 integral to membrane|plasma membrane G-protein coupled receptor activity p.L515L(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCATGAGACAGTCTTCTTTCT 0.403000 32 152 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46328488 46328488 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:46328488C>T ENST00000245934.7 - 18 2675 c.2431G>A c.(2431-2433)Gtg>Atg p.V811M NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 811 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TCAGTGTACACGGCCGCCAGT 0.647000 27 55 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46718164 46718164 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:46718164C>T ENST00000318962.4 - 18 2079 c.1996G>A c.(1996-1998)Gag>Aag p.E666K ALS2CL_ENST00000383742.3_Missense_Mutation_p.E13K|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E666K NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 666 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) GCCTTGGGCTCCCGGTGCTGC 0.637000 12 43 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17692013 17692013 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:17692013C>G ENST00000252599.4 + 12 1749 c.1629C>G c.(1627-1629)ctC>ctG p.L543L NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 ACTTCTCCCTCCGCAACCTGC 0.597000 109 206 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23519706 23519706 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:23519706G>A ENST00000374619.1 - 1 1516 c.1007C>T c.(1006-1008)gCg>gTg p.A336V HTR1D_ENST00000314113.3_Missense_Mutation_p.A336V NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 336 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GTCAAAGAGCGCCGGGTGGAT 0.507000 25 80 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10996592 10996592 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:10996592C>G ENST00000324288.8 + 8 839 c.706C>G c.(706-708)Ctg>Gtg p.L236V CIITA_ENST00000381835.5_Missense_Mutation_p.L187V|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 236 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CATCTCCACTCTGCCCCATGG 0.577000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 12 68 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805359 39805359 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:39805359G>A ENST00000248668.4 - 1 617 c.618C>T c.(616-618)ttC>ttT p.F206F CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 206 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) GAAGCTGCACGAAGGTCCCCT 0.647000 15 27 0 0 1 0 0 INSIG1 3638 broad.mit.edu 37 7 155090349 155090349 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:155090349G>C ENST00000340368.4 + 2 565 c.354G>C c.(352-354)gtG>gtC p.V118V INSIG1_ENST00000342407.5_Silent_p.V118V|INSIG1_ENST00000344756.4_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 118 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGAGGAGGTGATCGCCACCA 0.597000 3 20 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33289288 33289288 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:33289288G>C ENST00000374542.5 - 3 468 c.264C>G c.(262-264)ctC>ctG p.L88L DAXX_ENST00000266000.6_Silent_p.L88L|DAXX_ENST00000414083.2_Silent_p.L13L|DAXX_ENST00000477162.1_Intron NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 88 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GCCGGTTATAGAGGAATGGGA 0.567000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 20 97 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505178 70505178 + Missense_Mutation SNP C C T rs141951097 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:70505178C>T ENST00000310961.5 + 22 3990 c.3572C>T c.(3571-3573)gCg>gTg p.A1191V LRRC7_ENST00000415775.2_Missense_Mutation_p.A470V|LRRC7_ENST00000035383.5_Missense_Mutation_p.A1186V Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1186 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAAGCTCAGGCGGGAAGTTTT 0.488000 4 56 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4031860 4031860 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:4031860C>G ENST00000337659.6 + 2 209 c.109C>G c.(109-111)Caa>Gaa p.Q37E PRPF4B_ENST00000538861.1_Missense_Mutation_p.Q23E NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 37 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGACCAGTCTCAAAATAAGCA 0.289000 20 75 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7590028 7590028 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:7590028C>G ENST00000264079.6 + 2 338 c.213C>G c.(211-213)gtC>gtG p.V71V NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 71 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGCAAGTGGTCAAGATCCTGG 0.572000 16 43 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968680 69968680 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:69968680G>A ENST00000299293.2 + 10 1982 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q FRS2_ENST00000397997.2_Missense_Mutation_p.R491Q|FRS2_ENST00000549921.1_Missense_Mutation_p.R491Q|FRS2_ENST00000550389.1_Missense_Mutation_p.R491Q NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 491 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity p.R491Q(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCACTGCCACGAGATGATGGT 0.458000 43 68 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48652418 48652418 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:48652418C>G ENST00000376670.3 + 6 1200 c.1089C>G c.(1087-1089)ctC>ctG p.L363L GATA1_ENST00000376665.3_Intron NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 363 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 CTGCCCATCTCTACCAAGGCC 0.652000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 8 7 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42941053 42941053 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:42941053G>A ENST00000426333.2 - 15 1680 c.1383C>T c.(1381-1383)ctC>ctT p.L461L EFTUD2_ENST00000591382.1_Silent_p.L461L|EFTUD2_ENST00000592576.1_Silent_p.L451L|EFTUD2_ENST00000402521.3_Silent_p.L426L NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 461 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TAGCCTCGCCGAGGTCGGAGT 0.557000 44 50 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140139823 140139823 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:140139823G>C ENST00000344774.4 - 3 512 c.458C>G c.(457-459)cCa>cGa p.P153R FAM166A_ENST00000388932.2_Missense_Mutation_p.P153R NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 153 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 CCCGTATACTGGGTGTCCCAA 0.647000 28 39 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576409 71576409 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:71576409C>T ENST00000409544.1 + 2 955 c.325C>T c.(325-327)Cat>Tat p.H109Y ZNF638_ENST00000264447.4_Missense_Mutation_p.H109Y|ZNF638_ENST00000355812.3_Missense_Mutation_p.H109Y|ZNF638_ENST00000377802.2_Missense_Mutation_p.H109Y|ZNF638_ENST00000410075.1_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 109 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGATGAGCCTCATATATCTGC 0.458000 24 73 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1560501 1560501 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:1560501G>A ENST00000357210.4 + 6 1047 c.831G>A c.(829-831)gtG>gtA p.V277V MIB2_ENST00000355826.5_Silent_p.V320V|MIB2_ENST00000504599.1_Silent_p.V233V|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000360522.4_Silent_p.V277V|MIB2_ENST00000505820.2_Silent_p.V334V|MIB2_ENST00000520777.1_Silent_p.V334V|MIB2_ENST00000378710.3_Silent_p.V277V|MIB2_ENST00000378708.1_Silent_p.V219V NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 277 MIB/HERC2 2. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGGCAAGGTGGACCTCAAGT 0.617000 15 59 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82031655 82031655 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:82031655G>A ENST00000395578.1 - 15 2003 c.1887C>T c.(1885-1887)ttC>ttT p.F629F PRKG2_ENST00000264399.1_Silent_p.F629F|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.F600F|PRKG2_ENST00000545647.1_Silent_p.F209F Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 629 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AATCCACACTGAAGTCATGTC 0.438000 15 50 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553172 140553172 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:140553172C>T ENST00000231137.3 + 1 930 c.756C>T c.(754-756)ccC>ccT p.P252P NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 252 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGGTGCCCGAAAATAGCC 0.522000 10 97 0 0 1 0 0 BACE2 25825 broad.mit.edu 37 21 42647387 42647387 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr21:42647387G>A ENST00000347667.5 + 8 1706 c.1243G>A c.(1243-1245)Gag>Aag p.E415K BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000330333.6_Missense_Mutation_p.E465K NM_138991.1 NP_620476.1 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GTCTTTGAGCGAGCCCATTTT 0.547000 17 72 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320374 38320374 + Silent SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr13:38320374G>T ENST00000379705.3 - 3 1454 c.597C>A c.(595-597)atC>atA p.I199I TRPC4_ENST00000379681.3_Silent_p.I199I|TRPC4_ENST00000358477.2_Silent_p.I199I|TRPC4_ENST00000426868.2_Silent_p.I199I|TRPC4_ENST00000355779.2_Silent_p.I199I|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Silent_p.I199I|TRPC4_ENST00000447043.1_Silent_p.I199I Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 199 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGGCCTTGTAGATGTTGAGTC 0.532000 35 112 6.00712e-18 6.53534e-18 1 1 0 POLR2A 5430 broad.mit.edu 37 17 7405017 7405017 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:7405017G>A ENST00000322644.6 + 14 2717 c.2318G>A c.(2317-2319)gGa>gAa p.G773E NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 773 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GTCGTGTCCGGAGCTAAAGGT 0.483000 36 27 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147561847 147561847 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:147561847G>A ENST00000281321.3 + 2 1365 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 373 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GCCCTCCTCTGAAAAGATCGC 0.557000 20 108 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4488550 4488550 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:4488550G>C ENST00000237837.1 - 1 344 c.199C>G c.(199-201)Cag>Gag p.Q67E NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 67 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TAGATGGTCTGATGGGGTGCG 0.587000 47 77 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 68836394 68836394 + Missense_Mutation SNP C C T rs41539891 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:68836394C>T ENST00000374552.4 + 1 484 c.242C>T c.(241-243)tCg>tTg p.S81L EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.S81L|EDA_ENST00000525810.1_Missense_Mutation_p.S81L|EDA_ENST00000338901.3_Missense_Mutation_p.S81L|EDA_ENST00000524573.1_Missense_Mutation_p.S81L|EDA_ENST00000527388.1_Missense_Mutation_p.S81L NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 81 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 CTTGGCGGCTCGGGCACCCCT 0.677000 8 19 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26688465 26688465 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:26688465G>A ENST00000436292.1 - 7 1372 c.1252C>T c.(1252-1254)Cgc>Tgc p.R418C ZNF683_ENST00000403843.1_Missense_Mutation_p.R418C|ZNF683_ENST00000349618.3_Missense_Mutation_p.R398C|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398C Q8IZ20 ZN683_HUMAN zinc finger protein 683 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R398G(2)|p.R403G(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GAGTGCAGGCGCAGGTGGGTC 0.637000 14 87 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178408753 178408753 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:178408753G>A ENST00000231188.5 - 10 2717 c.2539C>T c.(2539-2541)Cca>Tca p.P847S RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P847S NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 847 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TTCTGCTCTGGATGGAAGAGG 0.597000 36 128 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152793464 152793464 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:152793464G>C ENST00000367255.5 - 15 2036 c.1435C>G c.(1435-1437)Cct>Gct p.P479A SYNE1_ENST00000413186.2_Missense_Mutation_p.P479A|SYNE1_ENST00000495090.2_Missense_Mutation_p.P46A|SYNE1_ENST00000448038.1_Missense_Mutation_p.P486A|SYNE1_ENST00000367253.4_Missense_Mutation_p.P479A|SYNE1_ENST00000466159.2_Missense_Mutation_p.P479A|SYNE1_ENST00000341594.5_Missense_Mutation_p.P486A|SYNE1_ENST00000367248.3_Missense_Mutation_p.P469A|SYNE1_ENST00000265368.4_Missense_Mutation_p.P479A|SYNE1_ENST00000423061.1_Missense_Mutation_p.P486A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 479 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) AATTGATCAGGTGGCACTGGA 0.403000 HNSCC(10;0.0054) 33 23 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552182 178552182 + Splice_Site SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:178552182C>A ENST00000251582.7 - 19 2852 c.e19-1 NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGTGACCCACCTGCCAGGGCA 0.667000 18 106 5.3912e-06 5.54951e-06 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73735784 73735784 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:73735784G>A ENST00000200181.3 + 19 2439 c.2252G>A c.(2251-2253)cGa>cAa p.R751Q ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R751Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.R751Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R751Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R751Q NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 751 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCTGCAACCGAGGTATGGGC 0.647000 9 77 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43529125 43529125 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:43529125C>G ENST00000401740.1 - 2 251 c.148G>C c.(148-150)Gat>Cat p.D50H PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.D50H|PSG11_ENST00000306322.7_Intron Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 50 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) AGAAGAACATCCTTCCCCTCG 0.463000 113 316 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121678866 121678866 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:121678866G>A ENST00000393386.2 + 19 5836 c.5425G>A c.(5425-5427)Gaa>Aaa p.E1809K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E942K NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1809 Tyrosine-protein phosphatase 1. 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 ATCCACAGCTGAAGATTTCTG 0.378000 26 61 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110238505 110238505 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:110238505G>A ENST00000418703.2 - 4 865 c.771C>T c.(769-771)ctC>ctT p.L257L TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Silent_p.L257L|TRPV4_ENST00000537083.1_Silent_p.L257L|TRPV4_ENST00000536838.1_Silent_p.L223L|TRPV4_ENST00000346520.2_Silent_p.L257L|TRPV4_ENST00000544971.1_Intron NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 257 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCTGGGCCACGAGAAGTTCCA 0.637000 12 56 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100999120 100999120 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:100999120C>T ENST00000325455.5 - 1 2135 c.682G>A c.(682-684)Gag>Aag p.E228K PGR_ENST00000263463.5_Missense_Mutation_p.E228K|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 228 Modulating, Pro-Rich. 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 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) TCCTCGGACTCAGAGCCATCC 0.726000 11 15 0 0 1 0 0 SMYD5 10322 broad.mit.edu 37 2 73441448 73441448 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:73441448C>T ENST00000389501.4 + 1 99 c.54C>T c.(52-54)cgC>cgT p.R18R NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 18 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 TGGCGGGCCGCGCGCGGGTCT 0.697000 49 164 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344684 38344684 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:38344684G>A ENST00000374618.3 + 5 1810 c.1632G>A c.(1630-1632)caG>caA p.Q544Q ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.Q543Q|ZNF33A_ENST00000432900.2_Silent_p.Q550Q|ZNF33A_ENST00000307441.9_Silent_p.Q543Q NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 543 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CAGTACATCAGAGAACACACA 0.438000 24 167 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89890156 89890156 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:89890156G>C ENST00000435811.1 - 8 1404 c.950C>G c.(949-951)tCc>tGc p.S317C GABRR1_ENST00000454853.2_Missense_Mutation_p.S334C|GABRR1_ENST00000369451.3_Missense_Mutation_p.S247C NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 334 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GCGCGGCATGGAGGCATTCAC 0.527000 18 40 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39919550 39919550 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:39919550C>G ENST00000393931.3 - 8 1300 c.1182G>C c.(1180-1182)aaG>aaC p.K394N JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.K394N|JUP_ENST00000310706.5_Missense_Mutation_p.K394N NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 394 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TCACCAGAATCTTCAGCACAC 0.577000 33 33 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116333 15116333 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:15116333C>G ENST00000253699.3 - 14 1924 c.1311G>C c.(1309-1311)ttG>ttC p.L437F ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L437F NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 437 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 CAGCCTTTCTCAAGGGGGCAG 0.627000 23 91 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183947620 183947620 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:183947620C>T ENST00000361927.4 - 2 669 c.298G>A c.(298-300)Gaa>Aaa p.E100K COLGALT2_ENST00000546159.1_Missense_Mutation_p.E100K NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CTGAATATTTCTGTTGTATTA 0.408000 14 64 0 0 1 0 0 SHISA5 51246 broad.mit.edu 37 3 48510783 48510783 + Missense_Mutation SNP G G T rs138360895 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:48510783G>T ENST00000296444.2 - 5 956 c.620C>A c.(619-621)cCg>cAg p.P207Q SHISA5_ENST00000443308.2_Missense_Mutation_p.P200Q|SHISA5_ENST00000426002.1_Missense_Mutation_p.P104Q|SHISA5_ENST00000442747.1_Missense_Mutation_p.P176Q|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000444115.1_Missense_Mutation_p.P176Q NM_001272065.1|NM_016479.3 NP_001258994.1|NP_057563.3 Q8N114 SHSA5_HUMAN shisa family member 5 207 Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding large_intestine(1)|lung(1) 2 GTGGTAGGCCGGTGGGCCCAT 0.657000 35 68 3.54561e-26 3.8977e-26 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62049171 62049171 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:62049171G>C ENST00000578147.1 - 4 598 c.522C>G c.(520-522)atC>atG p.I174M SCN4A_ENST00000435607.1_Missense_Mutation_p.I174M P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 174 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CCAGTATCTTGATGAGGGACT 0.602000 3 34 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73499506 73499506 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:73499506G>C ENST00000224721.6 + 35 4485 c.4480G>C c.(4480-4482)Gag>Cag p.E1494Q NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1489 Cadherin 14. 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 GGACAGAGAAGAGCTGGATCA 0.592000 14 22 0 0 1 0 0 GLTP 51228 broad.mit.edu 37 12 110296515 110296515 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:110296515G>C ENST00000318348.4 - 2 248 c.135C>G c.(133-135)atC>atG p.I45M GLTP_ENST00000544393.1_Missense_Mutation_p.I45M NM_016433.3 NP_057517.1 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 45 2 X 12 AA approximate tandem repeats. cytoplasm glycolipid binding|glycolipid transporter activity endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1) 4 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) TGTCTGCCTTGATGGGAGTAA 0.537000 30 132 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131765167 131765167 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:131765167G>C ENST00000372577.2 + 37 4230 c.4209G>C c.(4207-4209)ctG>ctC p.L1403L NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1403 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CCATGTCCCTGATGGAGCAGC 0.592000 29 32 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538169 4538169 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:4538169G>C ENST00000306390.6 - 2 1287 c.827C>G c.(826-828)cCc>cGc p.P276R CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 276 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 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) GAGCCCCTCGGGCACGCTGGC 0.642000 45 105 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122215266 122215266 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:122215266C>G ENST00000263710.4 - 14 1771 c.1382G>C c.(1381-1383)aGa>aCa p.R461T CLASP1_ENST00000409078.3_Missense_Mutation_p.R461T|CLASP1_ENST00000397587.3_Missense_Mutation_p.R461T|CLASP1_ENST00000455322.2_Missense_Mutation_p.R461T|CLASP1_ENST00000541859.1_Missense_Mutation_p.R230T|CLASP1_ENST00000545861.1_Missense_Mutation_p.R229T|CLASP1_ENST00000541377.1_Missense_Mutation_p.R461T NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 461 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) AATTTACCTTCTAACTGCGAC 0.338000 10 47 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109793596 109793596 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr13:109793596C>G ENST00000356711.2 + 32 5096 c.4970C>G c.(4969-4971)cCc>cGc p.P1657R MYO16_ENST00000357550.2_Missense_Mutation_p.P1657R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1657 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCCTCGCCCCCCGCGCCCTAC 0.701000 7 6 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732510 92732510 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:92732510C>G ENST00000379958.2 - 3 3170 c.2901G>C c.(2899-2901)ctG>ctC p.L967L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 967 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) CTGTTTTTATCAGAATTGTAG 0.398000 41 110 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113524369 113524369 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:113524369C>G ENST00000273398.3 + 14 1866 c.1758C>G c.(1756-1758)ttC>ttG p.F586L ATP6V1A_ENST00000538620.1_Missense_Mutation_p.F553L|ATP6V1A_ENST00000461496.1_3'UTR NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 586 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCATGAAATTCAAGGTATATT 0.378000 41 73 0 0 1 0 0 FAM134B 54463 broad.mit.edu 37 5 16479024 16479024 + Nonsense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:16479024G>C ENST00000306320.9 - 6 829 c.743C>G c.(742-744)tCa>tGa p.S248* FAM134B_ENST00000399793.2_Nonsense_Mutation_p.S107* NM_001034850.2 NP_001030022.1 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 248 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 CAGCAGAACTGACTTAATTTT 0.313000 69 179 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20857566 20857566 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:20857566G>C ENST00000261377.6 + 19 2357 c.2148G>C c.(2146-2148)aaG>aaC p.K716N ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K716N|AC004381.6_ENST00000348433.6_Missense_Mutation_p.K685N NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 ACCACCCGAAGATAGCAGCCT 0.547000 51 189 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232780 35232780 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:35232780C>A ENST00000392232.3 + 6 1794 c.1626C>A c.(1624-1626)ttC>ttA p.F542L ZNF181_ENST00000459757.2_Missense_Mutation_p.F497L|ZNF181_ENST00000492450.1_Missense_Mutation_p.F498L Q2M3W8 ZN181_HUMAN zinc finger protein 181 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGAAGACCTTCAGCTGTAGTT 0.393000 25 66 2.21704e-12 2.36309e-12 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55582248 55582248 + Silent SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:55582248G>T ENST00000361849.3 - 34 5638 c.5244C>A c.(5242-5244)ccC>ccA p.P1748P PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Silent_p.P1743P|PCDH15_ENST00000437009.1_Silent_p.P1677P|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1723P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1746P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1706P|PCDH15_ENST00000373965.2_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1746 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gagggggaaggggaCAGGCAG 0.458000 HNSCC(58;0.16) 11 19 2.27111e-07 2.36091e-07 1 1 0 RIOK2 55781 broad.mit.edu 37 5 96506977 96506977 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:96506977C>T ENST00000283109.3 - 6 780 c.712G>A c.(712-714)Gaa>Aaa p.E238K CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.E238K NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 238 ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TGGTCACTTTCATCCAAAATG 0.333000 19 53 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25229006 25229006 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:25229006C>T ENST00000216962.4 + 1 302 c.192C>T c.(190-192)ctC>ctT p.L64L NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 64 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GCGACCACCTCGTGGGCCGCT 0.701000 13 7 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004540 74004540 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:74004540C>G ENST00000301607.3 - 22 4999 c.4746G>C c.(4744-4746)caG>caC p.Q1582H EVPL_ENST00000586740.1_Missense_Mutation_p.Q1604H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1582 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 CCCGGGCCCTCTGCAGCTCGG 0.726000 4 22 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102541061 102541061 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:102541061C>T ENST00000370296.2 + 5 1105 c.555C>T c.(553-555)taC>taT p.Y185Y PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Silent_p.Y185Y|PAX2_ENST00000428433.1_Silent_p.Y185Y|PAX2_ENST00000355243.3_Silent_p.Y185Y|PAX2_ENST00000556085.1_Silent_p.Y184Y Q02962 PAX2_HUMAN paired box 2 185 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TGGGATCCTACTCCATCAATG 0.552000 52 92 0 0 1 0 0 SETD6 79918 broad.mit.edu 37 16 58550743 58550743 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:58550743G>A ENST00000394266.4 + 6 552 c.496G>A c.(496-498)Gaa>Aaa p.E166K SETD6_ENST00000219315.4_Missense_Mutation_p.E235K|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Missense_Mutation_p.E211K Q8TBK2 SETD6_HUMAN SET domain containing 6 235 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 AGAAGAGGATGAAAAGGAGCC 0.517000 36 169 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96192269 96192269 + Missense_Mutation SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:96192269A>T ENST00000324765.8 + 11 1474 c.1127A>T c.(1126-1128)cAg>cTg p.Q376L DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q372L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q376L O60879 DIAP2_HUMAN diaphanous-related formin 2 376 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 CTTGATATTCAGTTGAAAGTA 0.308000 27 11 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918932 21918932 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:21918932C>A ENST00000240662.2 - 3 1345 c.1000G>T c.(1000-1002)Gtg>Ttg p.V334L RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 334 V -> A (in dbSNP:rs34811413). voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) ACAGAATACACTCCTTCTTCC 0.488000 53 75 3.94638e-17 4.286e-17 1 1 0 NAV1 89796 broad.mit.edu 37 1 201752699 201752699 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:201752699C>T ENST00000367296.4 + 7 2943 c.2523C>T c.(2521-2523)ttC>ttT p.F841F NAV1_ENST00000367302.1_Silent_p.F854F|NAV1_ENST00000367297.4_Silent_p.F841F|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Silent_p.F841F|NAV1_ENST00000367295.1_Silent_p.F450F|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.F841F NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 841 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CTTCCTGCTTCACCCCCAGTC 0.547000 72 132 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825670 4825670 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:4825670C>T ENST00000380382.1 - 1 177 c.178G>A c.(178-180)Gat>Aat p.D60N MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGATAACAATCAAAACAAGTG 0.393000 21 85 0 0 1 0 0 CD40 958 broad.mit.edu 37 20 44751805 44751805 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:44751805C>G ENST00000372285.3 + 5 516 c.444C>G c.(442-444)gtC>gtG p.V148V CD40_ENST00000372276.3_Silent_p.V148V|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 148 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 p.V148V(1) 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) CCTGCCCAGTCGGCTTCTTCT 0.532000 Immune Deficiency with Hyper-IgM 80 85 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53877732 53877732 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:53877732C>T ENST00000267079.2 - 9 1447 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K MAP3K12_ENST00000547035.1_Missense_Mutation_p.E441K|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E441K NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 408 Leucine-zipper 1. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 AGTTCCTCTTCTAGGCGGTGC 0.512000 27 162 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34021165 34021165 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:34021165C>G ENST00000389232.4 + 47 7211 c.7141C>G c.(7141-7143)Ctg>Gtg p.L2381V RYR3_ENST00000415757.3_Missense_Mutation_p.L2381V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2381 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCAAACTTTTCTGCTCCACTT 0.448000 19 30 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66463856 66463856 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:66463856C>G ENST00000533211.1 - 21 4501 c.4170G>C c.(4168-4170)caG>caC p.Q1390H SPTBN2_ENST00000529997.1_Missense_Mutation_p.Q1390H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Q1390H O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1390 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CACAGCAGCTCTGGGCAAACA 0.627000 27 68 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122259410 122259410 + Silent SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:122259410G>T ENST00000462315.1 - 8 1967 c.1674C>A c.(1672-1674)ctC>ctA p.L558L PARP9_ENST00000477522.2_Silent_p.L558L|PARP9_ENST00000360356.2_Silent_p.L593L|PARP9_ENST00000492382.1_Silent_p.L138L|PARP9_ENST00000471785.1_Silent_p.L558L NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 593 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CCACCTCAATGAGGTCAGCCC 0.453000 23 54 5.26018e-13 5.62572e-13 1 1 0 PGBD1 84547 broad.mit.edu 37 6 28251816 28251816 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:28251816G>A ENST00000405948.2 + 2 646 c.226G>A c.(226-228)Gag>Aag p.E76K PGBD1_ENST00000259883.3_Missense_Mutation_p.E76K NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 76 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GCTGAGACCGGAGATGCACAC 0.567000 35 75 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930538 122930538 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:122930538C>T ENST00000534624.1 - 5 1039 c.763G>A c.(763-765)Gag>Aag p.E255K HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.E255K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E19K|HSPA8_ENST00000526110.1_Missense_Mutation_p.E236K|HSPA8_ENST00000453788.2_Missense_Mutation_p.E255K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E109K|HSPA8_ENST00000227378.3_Missense_Mutation_p.E255K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 255 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCTTGTTCTCACTGATGTCC 0.478000 53 40 0 0 1 0 0 ETFB 2109 broad.mit.edu 37 19 51857659 51857659 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:51857659G>A ENST00000354232.4 - 1 2701 c.234C>T c.(232-234)gtC>gtT p.V78V CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000309244.4_Intron NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 74 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) tgaggacaacgacagcctgga 0.632000 8 40 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79411485 79411485 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:79411485G>A ENST00000307745.7 + 11 2403 c.2403G>A c.(2401-2403)atG>atA p.M801I CCCACCTCATGATGCAGAGCG 0.726000 3 2 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170038057 170038057 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:170038057G>A ENST00000263816.3 - 52 10355 c.10070C>T c.(10069-10071)tCt>tTt p.S3357F LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3357 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) GATTATCACAGACTTGTTGGT 0.507000 18 81 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 622750 622750 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:622750G>C ENST00000588649.2 - 8 1542 c.1458C>G c.(1456-1458)gtC>gtG p.V486V NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 486 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCCTGCAGGACCTGCGGAA 0.731000 3 8 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95537197 95537197 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:95537197C>G ENST00000371418.4 + 3 609 c.349C>G c.(349-351)Cta>Gta p.L117V LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Missense_Mutation_p.L117V NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 117 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TCTTCCACATCTAGAGTATTT 0.323000 7 50 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42526474 42526474 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:42526474G>A ENST00000262895.3 - 12 1505 c.1506C>T c.(1504-1506)atC>atT p.I502I GRIK5_ENST00000301218.4_Silent_p.I502I|GRIK5_ENST00000593562.1_Silent_p.I502I NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 502 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCTCAGCTGTGATGGTGAAGG 0.592000 23 54 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45107563 45107563 + Silent SNP G G T rs149494438 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr21:45107563G>T ENST00000340648.4 + 13 1425 c.1308G>T c.(1306-1308)ctG>ctT p.L436L NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 436 L -> P (in Ref. 1; BAA11496 and 3; AAH28386). rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding p.L436L(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CCTCTGGGCTGAAAGCCCTGA 0.657000 4 28 0.150653 0.151373 1 1 0 ACTL6A 86 broad.mit.edu 37 3 179287635 179287635 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:179287635G>C ENST00000429709.2 + 2 262 c.49G>C c.(49-51)Gac>Cac p.D17H ACTL6A_ENST00000392662.1_5'UTR|ACTL6A_ENST00000450518.2_5'UTR NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 17 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) CCTTGTTTTTGACATTGGATC 0.383000 24 97 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125449083 125449083 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:125449083G>A ENST00000308736.2 - 15 2000 c.1902C>T c.(1900-1902)taC>taT p.Y634Y DHX37_ENST00000544745.1_Silent_p.Y421Y NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 634 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AGTCCACCACGTACTTGATGC 0.587000 17 56 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34182956 34182956 + Silent SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:34182956T>A ENST00000297161.2 + 15 2234 c.1860T>A c.(1858-1860)ccT>ccA p.P620P BMPER_ENST00000426693.1_Silent_p.P620P NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 620 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACTGGGAGCCTCAGCAGAATT 0.478000 18 62 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15567440 15567440 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:15567440C>T ENST00000343625.7 - 10 1534 c.1449G>A c.(1447-1449)ctG>ctA p.L483L NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 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 CCGCAGTGCCCAGGTCAGTCA 0.607000 17 24 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26307008 26307008 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:26307008C>T ENST00000335473.7 + 33 5605 c.5355C>T c.(5353-5355)ctC>ctT p.L1785L MYO18B_ENST00000407587.2_Silent_p.L1786L|MYO18B_ENST00000536101.1_Silent_p.L1785L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1785 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 TCGGAACCCTCTGTGACCAGG 0.507000 6 15 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545972 82545972 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:82545972G>T ENST00000333891.9 - 7 11667 c.11330C>A c.(11329-11331)tCt>tAt p.S3777Y PCLO_ENST00000423517.2_Missense_Mutation_p.S3777Y|PCLO_ENST00000437081.1_Missense_Mutation_p.S497Y NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAGTTTTGCAGACTCCCTTTC 0.453000 4 60 0.00909568 0.00921248 1 1 0 CDHR2 54825 broad.mit.edu 37 5 175998225 175998225 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:175998225G>C ENST00000510636.1 + 6 601 c.327G>C c.(325-327)gaG>gaC p.E109D CDHR2_ENST00000506348.1_Missense_Mutation_p.E109D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E109D NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 109 Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TGCAGAGGGAGATGCTGGTGA 0.488000 19 29 0 0 1 0 0 FAM204A 63877 broad.mit.edu 37 10 120095864 120095864 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:120095864C>T ENST00000369183.4 - 3 323 c.64G>A c.(64-66)Gaa>Aaa p.E22K FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.E22K NM_022063.2 NP_071346.1 Q9H8W3 F204A_HUMAN family with sequence similarity 204, member A 22 kidney(1)|large_intestine(5)|lung(4)|ovary(1) 11 AACGTAGCTTCATCTTCCGAG 0.398000 12 69 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142446102 142446102 + RNA SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:142446102T>A ENST00000606664.1 + 0 1458 MROH5_ENST00000430863.1_RNA CTCAGCTCCCTGTCTGCCATG 0.682000 18 29 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80409489 80409489 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:80409489G>C ENST00000265080.4 + 15 2287 c.2220G>C c.(2218-2220)gtG>gtC p.V740V CTD-2193P3.2_ENST00000508993.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 740 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CTTCCCCAGTGAGGGCCAGAA 0.537000 30 50 0 0 1 0 0 VSIG1 340547 broad.mit.edu 37 X 107301401 107301401 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:107301401C>T ENST00000415430.3 + 2 344 c.183C>T c.(181-183)ttC>ttT p.F61F VSIG1_ENST00000217957.5_Silent_p.F61F NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 61 Ig-like V-type 1. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 AGTGGTCTTTCTTCCATAAGA 0.443000 41 26 0 0 1 0 0 AEN 64782 broad.mit.edu 37 15 89169933 89169933 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:89169933C>T ENST00000332810.3 + 2 644 c.493C>T c.(493-495)Cgg>Tgg p.R165W AEN_ENST00000379231.3_Missense_Mutation_p.R165W NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 165 Exonuclease. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGGCATCACTCGGCAGCACAT 0.577000 10 51 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43816164 43816164 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr21:43816164T>A ENST00000380399.1 - 1 791 c.88A>T c.(88-90)Att>Ttt p.I30F TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000433957.2_5'UTR P57727 TMPS3_HUMAN transmembrane protease, serine 3 0 cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CATGACCTAATTAAGAACGAA 0.537000 9 28 0 0 1 0 0 ERH 2079 broad.mit.edu 37 14 69847347 69847347 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:69847347C>G ENST00000557016.1 - 4 616 c.223G>C c.(223-225)Gat>Cat p.D75H ERH_ENST00000216520.6_5'UTR NM_004450.2 NP_004441.1 P84090 ERH_HUMAN enhancer of rudimentary homolog (Drosophila) 75 cell cycle|pyrimidine nucleoside metabolic process midbody protein binding all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507) GTCTGGGTATCAGCTCGGTAA 0.453000 18 43 0 0 1 0 0 FDCSP 260436 broad.mit.edu 37 4 71099895 71099895 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:71099895C>T ENST00000317987.5 + 4 361 c.249C>T c.(247-249)agC>agT p.S83S NM_152997.3 NP_694542.1 Q8NFU4 FDSCP_HUMAN follicular dendritic cell secreted protein 83 extracellular region CCCTTCCTAGCGAAAAGTAAA 0.373000 21 110 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24442207 24442207 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:24442207C>T ENST00000383168.4 - 2 514 c.386G>A c.(385-387)gGa>gAa p.G129E AQP4_ENST00000440832.3_Missense_Mutation_p.G107E|AQP4_ENST00000581374.1_Missense_Mutation_p.G107E|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 129 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) GATTCCTGCTCCAATGATGGC 0.542000 24 73 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48508256 48508256 + Missense_Mutation SNP T T G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:48508256T>G ENST00000296443.9 + 3 1089 c.202T>G c.(202-204)Tcc>Gcc p.S68A TREX1_ENST00000456089.1_Intron|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000422277.2_Missense_Mutation_p.S123A|TREX1_ENST00000436480.2_Missense_Mutation_p.S68A|TREX1_ENST00000444177.1_Missense_Mutation_p.S58A|TREX1_ENST00000492235.1_3'UTR Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 123 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGACAAGCTCTCCCTGTGTGT 0.642000 36 109 0 0 1 0 0 PWP1 11137 broad.mit.edu 37 12 108104198 108104198 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:108104198C>T ENST00000412830.3 + 14 1475 c.1307C>T c.(1306-1308)tCt>tTt p.S436F PWP1_ENST00000541166.1_Missense_Mutation_p.S374F NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 436 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 CTCTTCTGTTCTTCATGTTGC 0.413000 13 65 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102740381 102740381 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:102740381C>T ENST00000210633.3 + 11 1476 c.1398C>T c.(1396-1398)caC>caT p.H466H MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Silent_p.H466H|SEMA4G_ENST00000370250.4_Silent_p.H466H Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 466 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) CTGGGATGCACATTATTGAAG 0.498000 33 80 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74949825 74949825 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:74949825C>T ENST00000262144.6 - 13 1297 c.1167G>A c.(1165-1167)caG>caA p.Q389Q NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 389 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GCTGCAAGGTCTGAGGCAGCC 0.458000 25 87 0 0 1 0 0 SNX10 29887 broad.mit.edu 37 7 26411509 26411509 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:26411509C>T ENST00000338523.4 + 6 567 c.380C>T c.(379-381)tCa>tTa p.S127L SNX10_ENST00000409838.1_Missense_Mutation_p.S43L|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.S87L|SNX10_ENST00000396376.1_Missense_Mutation_p.S127L|SNX10_ENST00000446848.2_Missense_Mutation_p.S153L NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 127 PX. cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 CATCTGAATTCAGAAGACATT 0.383000 26 153 0 0 1 0 0 NUP54 53371 broad.mit.edu 37 4 77055453 77055453 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:77055453G>A ENST00000264883.3 - 5 725 c.585C>T c.(583-585)ttC>ttT p.F195F NUP54_ENST00000458189.2_Silent_p.F15F|NUP54_ENST00000514987.1_Silent_p.F147F|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_Silent_p.F15F NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 195 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CTTTTTTGTTGAAAACTAAAA 0.353000 11 74 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160182266 160182266 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:160182266C>G ENST00000392783.2 - 35 6602 c.6107G>C c.(6106-6108)aGa>aCa p.R2036T BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1936T|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R2002T|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R2000T NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 2036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CTCCATTTTTCTTTTCTTGAG 0.353000 16 81 0 0 1 0 0 ELOVL2 54898 broad.mit.edu 37 6 11005697 11005697 + Missense_Mutation SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:11005697A>G ENST00000354666.3 - 3 246 c.163T>C c.(163-165)Tat>Cat p.Y55H NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 55 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TTCTTCATATACTTGTTACCC 0.443000 13 54 0 0 1 0 0 NDUFS8 4728 broad.mit.edu 37 11 67800437 67800437 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:67800437G>A ENST00000313468.5 + 4 264 c.157G>A c.(157-159)Gac>Aac p.D53N NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 53 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) GTCAGTGACTGACCGGGCAGC 0.637000 18 77 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112896816 112896816 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:112896816C>A ENST00000161863.4 + 18 2469 c.2256C>A c.(2254-2256)ttC>ttA p.F752L NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 752 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTCGTCTGTTCAGTAGACTCC 0.338000 10 62 2.68362e-12 2.85559e-12 1 1 0 ARSG 22901 broad.mit.edu 37 17 66366590 66366590 + Missense_Mutation SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:66366590A>G ENST00000448504.2 + 8 1703 c.907A>G c.(907-909)Aat>Gat p.N303D ARSG_ENST00000452479.2_Missense_Mutation_p.N139D|ARSG_ENST00000582154.1_3'UTR NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 303 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TCTAGGAGACAATGGCCCGTG 0.557000 12 32 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65398045 65398045 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:65398045C>T ENST00000355703.3 + 27 4979 c.4440C>T c.(4438-4440)ctC>ctT p.L1480L PCNXL3_ENST00000531280.1_3'UTR NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1480 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 TTTTCGACCTCCGCAAGATCC 0.597000 7 55 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169811667 169811667 + Nonsense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:169811667T>A ENST00000286031.6 + 18 2535 c.1835T>A c.(1834-1836)tTa>tAa p.L612* C1orf112_ENST00000359326.4_Nonsense_Mutation_p.L612*|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 612 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGCTTTTTTAAACATTAAA 0.348000 14 58 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129394931 129394931 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:129394931G>A ENST00000393232.1 + 11 1539 c.1422G>A c.(1420-1422)caG>caA p.Q474Q NRF1_ENST00000223190.4_Silent_p.Q474Q|NRF1_ENST00000393230.2_Silent_p.Q474Q|NRF1_ENST00000353868.4_Silent_p.Q408Q|NRF1_ENST00000393231.3_Silent_p.Q493Q|NRF1_ENST00000539636.1_Silent_p.Q313Q|NRF1_ENST00000311967.2_Silent_p.Q493Q NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 474 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 GACCAGTGCAGGTGGCCATGG 0.592000 22 36 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63995136 63995136 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:63995136G>A ENST00000279206.3 + 3 733 c.577G>A c.(577-579)Gag>Aag p.E193K NUDT22_ENST00000441250.2_Intron NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 193 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 GATCTGTGATGAGGTGAGTGA 0.597000 30 45 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98546198 98546198 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:98546198C>G ENST00000359863.4 + 34 4866 c.4657C>G c.(4657-4659)Cca>Gca p.P1553A TRRAP_ENST00000446306.3_Missense_Mutation_p.P1534A|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1535A NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1553 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCGGGGAGTCCATTCCGAGA 0.537000 56 93 0 0 1 0 0 ZFAND1 79752 broad.mit.edu 37 8 82627265 82627265 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:82627265C>T ENST00000220669.5 - 4 241 c.223G>A c.(223-225)Gtg>Atg p.V75M ZFAND1_ENST00000517588.1_De_novo_Start_InFrame|ZFAND1_ENST00000523096.1_Missense_Mutation_p.V75M|ZFAND1_ENST00000521287.1_De_novo_Start_InFrame|ZFAND1_ENST00000522520.1_De_novo_Start_InFrame|ZFAND1_ENST00000521895.1_De_novo_Start_InFrame|ZFAND1_ENST00000519523.1_Missense_Mutation_p.V75M NM_024699.2 NP_078975.2 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 75 zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 ATAACTGCCACAAGTTCTCTC 0.378000 46 74 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231118053 231118053 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:231118053C>T ENST00000392045.3 + 11 1194 c.1080C>T c.(1078-1080)acC>acT p.T360T SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Silent_p.T360T|SP140_ENST00000343805.6_Intron|SP140_ENST00000486687.2_Silent_p.T284T|SP140_ENST00000350136.5_Intron NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 360 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) CTGCAGAGACCTTTGATCTAA 0.448000 29 54 0 0 1 0 0 STK35 140901 broad.mit.edu 37 20 2083812 2083812 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:2083812G>A ENST00000381482.3 + 2 964 c.693G>A c.(691-693)aaG>aaA p.K231K STK35_ENST00000246032.3_Silent_p.K98K|STK35_ENST00000400064.3_Silent_p.K59K Q8TDR2 STK35_HUMAN serine/threonine kinase 35 231 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 TGGCGGTCAAGAAGATCCGCT 0.692000 6 6 0 0 1 0 0 REEP3 221035 broad.mit.edu 37 10 65358945 65358945 + Missense_Mutation SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:65358945A>G ENST00000373758.4 + 5 502 c.319A>G c.(319-321)Att>Gtt p.I107V REEP3_ENST00000298249.4_Missense_Mutation_p.I92V NM_001001330.2 NP_001001330.1 Q6NUK4 REEP3_HUMAN receptor accessory protein 3 107 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TGATGATTATATTGTACAAGC 0.388000 12 25 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130482644 130482644 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:130482644C>G ENST00000373289.3 + 6 707 c.627C>G c.(625-627)ttC>ttG p.F209L PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.F33L|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 209 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TCTACATCTTCCGGGCCAGAC 0.612000 15 86 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959329 45959329 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr21:45959329G>A ENST00000400375.1 - 1 749 c.705C>T c.(703-705)ctC>ctT p.L235L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 235 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CAGGGCGGCAGAGGAGGGACA 0.687000 36 83 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176317903 176317903 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:176317903C>G ENST00000292432.5 - 5 545 c.454G>C c.(454-456)Gat>Cat p.D152H NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 152 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCTGCGCATCCAGGAACTCA 0.602000 12 69 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137323274 137323274 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:137323274C>T ENST00000033079.3 - 9 1373 c.922G>A c.(922-924)Gaa>Aaa p.E308K FAM13B_ENST00000420893.2_Missense_Mutation_p.E308K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E190K NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 308 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 AGGTGCTGTTCCACAGCTGCT 0.358000 18 44 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143114 55143114 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:55143114G>A ENST00000396331.1 + 5 591 c.234G>A c.(232-234)gtG>gtA p.V78V LILRB1_ENST00000396332.4_Silent_p.V78V|LILRB1_ENST00000434867.2_Silent_p.V78V|LILRB1_ENST00000448689.1_Silent_p.V78V|LILRB1_ENST00000396321.2_Silent_p.V78V|LILRB1_ENST00000427581.2_Silent_p.V114V|LILRB1_ENST00000396315.1_Silent_p.V78V|LILRB1_ENST00000324602.7_Silent_p.V78V|LILRB1_ENST00000396327.3_Silent_p.V78V|LILRB1_ENST00000396317.1_Silent_p.V78V|LILRB1_ENST00000418536.2_Silent_p.V78V NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 78 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGGAGCTTGTGAAGAAGGGCC 0.557000 HNSCC(37;0.09) 37 126 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184694 130184694 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:130184694G>A ENST00000422113.2 - 2 955 c.629C>T c.(628-630)gCc>gTc p.A210V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 210 integral to membrane p.A210V(1) 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) CCTCCTCCCGGCAACCACCGT 0.706000 3 41 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88457844 88457844 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:88457844G>A ENST00000552810.1 - 45 6527 c.6184C>T c.(6184-6186)Cag>Tag p.Q2062* CEP290_ENST00000547691.2_Nonsense_Mutation_p.Q1122*|CEP290_ENST00000397838.3_Nonsense_Mutation_p.Q1122*|CEP290_ENST00000309041.7_Nonsense_Mutation_p.Q2064* NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 2062 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTTTCCTTCTGAAGCTCCTGT 0.303000 6 12 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004086 74004086 + Nonsense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:74004086C>A ENST00000301607.3 - 22 5453 c.5200G>T c.(5200-5202)Gag>Tag p.E1734* EVPL_ENST00000586740.1_Nonsense_Mutation_p.E1756* NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1734 Globular 2. 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 ACAGACTCCTCCCCACAGGGC 0.632000 14 60 7.93312e-07 8.2197e-07 1 1 0 ARG2 384 broad.mit.edu 37 14 68112474 68112474 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:68112474C>T ENST00000261783.3 + 4 657 c.477C>T c.(475-477)ctC>ctT p.L159L ARG2_ENST00000556491.1_Intron NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 159 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) CAGGAAATCTCCATGGACAGC 0.498000 35 41 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23405207 23405207 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:23405207C>T ENST00000418100.1 - 4 1957 c.1840G>A c.(1840-1842)Gta>Ata p.V614I endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GATTTTTCTACAGCATGAATT 0.418000 10 29 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193261 128193261 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:128193261C>G ENST00000284694.7 - 3 628 c.508G>C c.(508-510)Gag>Cag p.E170Q C10orf90_ENST00000544758.1_Missense_Mutation_p.E267Q|C10orf90_ENST00000356858.3_Missense_Mutation_p.E123Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.E170Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E123Q NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 170 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) AGTGTGTCCTCAGCCCTGCAC 0.647000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 104 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151900091 151900091 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:151900091G>A ENST00000355193.2 - 26 4238 c.4020C>T c.(4018-4020)agC>agT p.S1340S KMT2C_ENST00000262189.6_Silent_p.S1340S lysine (K)-specific methyltransferase 2C TTTTTTCAGTGCTTTCAGTAA 0.303000 29 103 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34652086 34652086 + Nonstop_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr21:34652086G>C ENST00000433395.2 + 6 744 c.744G>C c.(742-744)taG>taC p.*248Y IL10RB_ENST00000290200.2_Missense_Mutation_p.E121Q AATGCAAGTAGAAGTACTTGC 0.328000 34 125 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102045134 102045134 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:102045134C>T ENST00000549145.1 + 15 1553 c.1453C>T c.(1453-1455)Cag>Tag p.Q485* MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.Q460*|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.Q497*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.Q453*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.Q446*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.Q373*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.Q497*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.Q472*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.Q459*|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.Q458* Q00872 MYPC1_HUMAN myosin binding protein C, slow type 472 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 CCTACCTGTTCAGGAGAGTGA 0.438000 66 104 0 0 1 0 0 HES4 57801 broad.mit.edu 37 1 935114 935114 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:935114G>A ENST00000428771.2 - 1 438 c.240C>T c.(238-240)ctC>ctT p.L80L HES4_ENST00000304952.6_Silent_p.L54L|HES4_ENST00000484667.2_Intron NM_001142467.1|NM_021170.3 NP_001135939.1|NP_066993.1 Q9HCC6 HES4_HUMAN hes family bHLH transcription factor 4 54 Helix-loop-helix motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding lung(2) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGAGCTGAGCGAGGCTCTCGT 0.677000 18 112 0 0 1 0 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782430 27782430 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:27782430C>T ENST00000333151.3 - 1 177 c.89G>A c.(88-90)cGa>cAa p.R30Q NM_021066.2 NP_066544.1 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 30 nucleosome assembly nucleosome|nucleus DNA binding p.R30Q(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 11 GCGATGCACTCGGCCTACGGG 0.652000 10 43 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123239508 123239508 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:123239508C>T ENST00000358487.5 - 18 2601 c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K FGFR2_ENST00000478859.1_Missense_Mutation_p.E549K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E775K|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.E778K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E660K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E661K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E665K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E663K NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 777 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.E777K(1)|p.E778*(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GAATACTGTTCGAGAGGTTGG 0.453000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 19 159 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545179 54545179 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:54545179C>T ENST00000338372.2 - 7 719 c.544G>A c.(544-546)Gag>Aag p.E182K VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.E151K|VSTM1_ENST00000366170.2_Missense_Mutation_p.E94K NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 182 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CCGGCAGCCTCCTGCTCCGGA 0.493000 21 58 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35230118 35230118 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:35230118G>C ENST00000392232.3 + 4 375 c.207G>C c.(205-207)caG>caC p.Q69H ZNF181_ENST00000459757.2_Missense_Mutation_p.Q25H|ZNF181_ENST00000492450.1_Missense_Mutation_p.Q25H Q2M3W8 ZN181_HUMAN zinc finger protein 181 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GTTCTGCTCAGAGGGACTTAT 0.443000 21 111 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34040396 34040396 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:34040396G>C ENST00000389232.4 + 54 8141 c.8071G>C c.(8071-8073)Gag>Cag p.E2691Q RYR3_ENST00000415757.3_Missense_Mutation_p.E2691Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2691 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAGGACCAAAGAGGGAGAAGC 0.552000 12 57 0 0 1 0 0 CCNB1 891 broad.mit.edu 37 5 68470924 68470924 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:68470924C>T ENST00000256442.5 + 6 1179 c.926C>T c.(925-927)gCa>gTa p.A309V NM_031966.3 NP_114172.1 P14635 CCNB1_HUMAN cyclin B1 309 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole large_intestine(2)|lung(5)|skin(1) 8 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTTCGGAGAGCATCTAAGATT 0.453000 37 50 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42946262 42946262 + Silent SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:42946262C>G ENST00000304611.8 - 1 696 c.627G>C c.(625-627)cgG>cgC p.R209R PEX6_ENST00000244546.4_Silent_p.R209R NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 209 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) GGAGACAGCTCCGGCTCACCC 0.647000 6 22 0 0 1 0 0 MUM1 84939 broad.mit.edu 37 19 1360624 1360624 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:1360624C>T ENST00000311401.5 + 5 886 c.500C>T c.(499-501)tCa>tTa p.S167L MUM1_ENST00000415183.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000344663.3_Missense_Mutation_p.S236L Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 235 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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) TCTTCCCTTTCAGAGGACGAC 0.577000 28 60 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825276 121825276 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:121825276C>T ENST00000330540.2 + 4 748 c.632C>T c.(631-633)aCg>aTg p.T211M CD86_ENST00000469710.1_Missense_Mutation_p.T129M|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.T205M|CD86_ENST00000493101.1_Missense_Mutation_p.T99M NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 211 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CCTGATGTTACGAGCAATATG 0.388000 108 289 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118458188 118458188 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:118458188G>A ENST00000369209.3 - 5 608 c.504C>T c.(502-504)atC>atT p.I168I NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 168 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CATAAGCAAAGATTTCAAGGG 0.522000 29 137 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46823807 46823807 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:46823807G>C ENST00000339613.2 + 9 1220 c.965G>C c.(964-966)gGg>gCg p.G322A HIF3A_ENST00000244303.6_Missense_Mutation_p.G309A|HIF3A_ENST00000377670.4_Missense_Mutation_p.G378A|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Missense_Mutation_p.G309A|HIF3A_ENST00000420102.2_Missense_Mutation_p.G327A|HIF3A_ENST00000600383.1_Missense_Mutation_p.G309A|HIF3A_ENST00000300862.3_Missense_Mutation_p.G376A Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCTAACCCTGGGGACAGCCTT 0.647000 34 52 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17462487 17462487 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:17462487C>T ENST00000262545.2 + 12 2004 c.1689C>T c.(1687-1689)gaC>gaT p.D563D PCSK2_ENST00000536609.1_Silent_p.D528D|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.D544D NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 563 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGGGGAAGACGCCCGAGGCA 0.617000 22 26 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104129685 104129685 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:104129685C>T ENST00000369983.3 + 26 3540 c.3280C>T c.(3280-3282)Cgg>Tgg p.R1094W NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1094 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GTCTAGTGTTCGGGGCCCATC 0.532000 15 82 0 0 1 0 0 FAM189B 10712 broad.mit.edu 37 1 155220582 155220582 + Nonsense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:155220582G>T ENST00000361361.2 - 9 1504 c.995C>A c.(994-996)tCa>tAa p.S332* FAM189B_ENST00000350210.2_Nonsense_Mutation_p.S236*|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Nonsense_Mutation_p.S314* NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 332 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACCAATGGCTGACAGCACCAG 0.667000 OREG0013858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 11 0.184627 0.184627 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78790163 78790163 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:78790163G>A ENST00000376767.3 + 14 2530 c.2018G>A c.(2017-2019)gGa>gAa p.G673E PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 aaatggaatggaatggaatgg 0.393000 3 7 0 0 1 0 0 RWDD4 201965 broad.mit.edu 37 4 184572462 184572462 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:184572462G>A ENST00000326397.5 - 3 396 c.124C>T c.(124-126)Ccc>Tcc p.P42S RWDD4_ENST00000327570.9_Missense_Mutation_p.P42S|RWDD4_ENST00000512740.1_5'UTR|RWDD4_ENST00000510968.1_Intron NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 42 RWD. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 AAGGCTTTGGGATCACCATTT 0.353000 15 100 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15822602 15822602 + Nonsense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:15822602G>C ENST00000281172.5 - 5 798 c.362C>G c.(361-363)tCa>tGa p.S121* EPS8_ENST00000543523.1_Nonsense_Mutation_p.S121*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.S121* NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 121 PH; first part. cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) ACTTGCCTTTGATTCTAAATC 0.323000 38 53 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431843 135431843 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:135431843C>G ENST00000394143.1 + 6 6269 c.5978C>G c.(5977-5979)tCt>tGt p.S1993C GPR112_ENST00000412101.1_Missense_Mutation_p.S1788C|GPR112_ENST00000394141.1_Missense_Mutation_p.S1788C|GPR112_ENST00000370652.1_Missense_Mutation_p.S1993C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1930C NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1993 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCAATTCTTTCTGGTGCCACT 0.458000 27 57 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52381647 52381647 + Nonsense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:52381647G>C ENST00000420592.1 - 4 1515 c.182C>G c.(181-183)tCa>tGa p.S61* ZNF577_ENST00000301399.5_Nonsense_Mutation_p.S61*|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.S61*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.S61* Q9BSK1 ZN577_HUMAN zinc finger protein 577 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTTACCTATTGATACTAGGTT 0.418000 26 67 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75514212 75514212 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:75514212G>C ENST00000355774.2 - 2 2362 c.2147C>G c.(2146-2148)tCt>tGt p.S716C MLH3_ENST00000238662.7_Missense_Mutation_p.S716C|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.S716C|MLH3_ENST00000556257.1_Missense_Mutation_p.S716C NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 716 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CCAGGGGAAAGAGGGGGATGT 0.373000 Mismatch excision repair (MMR) 52 71 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41174315 41174315 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:41174315C>G ENST00000355653.3 - 1 120 c.25G>C c.(25-27)Gag>Cag p.E9Q VAT1_ENST00000587173.1_Missense_Mutation_p.E9Q NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 9 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) GTCGCTGCCTCGGCTACCTCT 0.706000 7 23 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90362717 90362717 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:90362717G>A ENST00000369393.3 - 94 15934 c.15819C>T c.(15817-15819)atC>atT p.I5273I MDN1_ENST00000428876.1_Silent_p.I5273I Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5273 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) CTACCTGGAAGATCGTGTCCA 0.333000 59 72 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656529 656529 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:656529C>T ENST00000380907.2 - 1 434 c.416G>A c.(415-417)aGg>aAg p.R139K EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 139 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CCACACTCTCCTGGGAAGCAC 0.726000 10 29 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124331831 124331831 + Splice_Site SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:124331831T>C ENST00000338354.3 + 5 295 c.189T>C c.(187-189)ggT>ggC p.G63G DMBT1_ENST00000368956.2_Splice_Site_p.G63G|DMBT1_ENST00000344338.3_Splice_Site_p.G63G|DMBT1_ENST00000368955.3_Splice_Site_p.G63G|DMBT1_ENST00000330163.4_Splice_Site_p.G63G|DMBT1_ENST00000368909.3_Splice_Site_p.G63G|DMBT1_ENST00000359586.6_Splice_Site_p.G63G Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 63 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 p.G63G(1) 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) ACCCTGCAGGTTCTCCGATTT 0.527000 37 243 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21744200 21744200 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:21744200C>G ENST00000328843.6 + 39 6474 c.6443C>G c.(6442-6444)tCt>tGt p.S2148C DNAH11_ENST00000409508.3_Missense_Mutation_p.S2141C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2148 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTCAGGCAGTCTACCCTGGAG 0.537000 Kartagener syndrome 10 33 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830177 231830177 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:231830177G>A ENST00000439617.2 + 2 726 c.673G>A c.(673-675)Gaa>Aaa p.E225K DISC1_ENST00000366636.4_Missense_Mutation_p.E225K|DISC1_ENST00000537876.1_Missense_Mutation_p.E225K|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.E225K|DISC1_ENST00000366633.3_Missense_Mutation_p.E225K|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.E225K|DISC1_ENST00000539444.1_Missense_Mutation_p.E225K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.E225K NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 225 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGAACGTGGAGAAGCAGAAGG 0.617000 21 21 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57216769 57216769 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:57216769C>G ENST00000343433.6 - 9 1415 c.1335G>C c.(1333-1335)caG>caC p.Q445H C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 445 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 AGGGATTTGTCTGGATGATGT 0.468000 13 72 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98941616 98941616 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:98941616G>C ENST00000556029.1 + 9 1701 c.1345G>C c.(1345-1347)Gac>Cac p.D449H TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Missense_Mutation_p.D340H|TMPO_ENST00000343315.5_Missense_Mutation_p.D409H NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 449 integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCTTCATGTTGACCCTAGAAA 0.348000 20 127 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131731764 131731764 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:131731764C>T ENST00000372577.2 + 10 904 c.883C>T c.(883-885)Cag>Tag p.Q295* NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 295 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 AGAACTGCATCAGTTTGCGCA 0.418000 12 37 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133494443 133494443 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:133494443G>C ENST00000402696.3 + 15 2339 c.1854G>C c.(1852-1854)aaG>aaC p.K618N TF_ENST00000264998.3_Missense_Mutation_p.K491N NM_001063.3 NP_001054 P02787 TRFE_HUMAN transferrin 618 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GCGTCCACAAGATATTACGTC 0.537000 64 98 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048822 9048822 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:9048822G>C ENST00000397910.4 - 5 33012 c.32809C>G c.(32809-32811)Ctg>Gtg p.L10937V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10939 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L6570V(1)|p.L10937V(1) 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 CTAGTGACCAGAGAGGTCACC 0.498000 46 111 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129156034 129156034 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:129156034G>C ENST00000429544.2 - 3 648 c.453C>G c.(451-453)atC>atG p.I151M MBD4_ENST00000503197.1_Missense_Mutation_p.I151M|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.I151M|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.I151M NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 151 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 ATCTTGACTTGATACCCCTTT 0.393000 Base excision repair (BER), DNA glycosylases 47 114 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113637017 113637017 + Nonsense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:113637017C>G ENST00000361127.5 + 5 770 c.572C>G c.(571-573)tCa>tGa p.S191* NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GATAATTTATCAAGTTCCTTA 0.333000 33 71 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26621193 26621193 + Missense_Mutation SNP C C T rs113091428 byFrequency TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr13:26621193C>T ENST00000319420.3 - 2 401 c.346G>A c.(346-348)Gtg>Atg p.V116M NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 116 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 AGGAACGGCACGTAGATGGGC 0.507000 12 24 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113506812 113506812 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:113506812G>A ENST00000505019.1 - 14 4111 c.3986C>T c.(3985-3987)tCa>tTa p.S1329L NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TGTATAAAATGATATGTCAAC 0.328000 10 25 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29099515 29099515 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:29099515C>A ENST00000544772.1 - 9 1659 c.223G>T c.(223-225)Gat>Tat p.D75Y CHEK2_ENST00000348295.3_Missense_Mutation_p.D296Y|CHEK2_ENST00000405598.1_Missense_Mutation_p.D296Y|CHEK2_ENST00000402731.1_Missense_Mutation_p.D296Y|CHEK2_ENST00000382566.1_Intron|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.D339Y|CHEK2_ENST00000403642.1_Missense_Mutation_p.D205Y|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.D296Y|CHEK2_ENST00000328354.6_Missense_Mutation_p.D296Y|CHEK2_ENST00000382578.1_Missense_Mutation_p.D205Y NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 296 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 ATATAATAATCTTCTGCATCA 0.323000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 14 0.00116845 0.00118535 1 1 0 CAMK2G 818 broad.mit.edu 37 10 75577299 75577299 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:75577299C>T ENST00000423381.1 - 20 1500 c.1377G>A c.(1375-1377)gaG>gaA p.E459E CAMK2G_ENST00000322635.3_Silent_p.E398E|CAMK2G_ENST00000322680.3_Silent_p.E427E|CAMK2G_ENST00000351293.3_Silent_p.E366E|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.E387E|CAMK2G_ENST00000305762.7_Silent_p.E400E|CAMK2G_ENST00000394762.2_Silent_p.E404E NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 429 insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) TCTTAATGATCTCCTGTTTTC 0.463000 34 80 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131765610 131765610 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:131765610G>A ENST00000372577.2 + 38 4332 c.4311G>A c.(4309-4311)gtG>gtA p.V1437V NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1437 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCAACGCAGTGAGGACAGTGC 0.577000 50 47 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116430558 116430558 + Splice_Site SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:116430558C>T ENST00000395715.3 - 6 3400 c.2823G>A c.(2821-2823)tcG>tcA p.S941S TRPS1_ENST00000520276.1_Splice_Site_p.S932S|TRPS1_ENST00000220888.5_Splice_Site_p.S928S|TRPS1_ENST00000519076.1_Splice_Site_p.S682S NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 928 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S928S(1)|p.S941S(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AAGTTCTTACCGAGTGAAGCT 0.498000 Langer-Giedion syndrome 30 174 0 0 1 0 0 PSMB8 5696 broad.mit.edu 37 6 32809395 32809395 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:32809395G>C ENST00000374881.2 - 5 932 c.643C>G c.(643-645)Ctt>Gtt p.L215V PSMB8_ENST00000374882.3_Missense_Mutation_p.L219V|PSMB8_ENST00000395339.3_Missense_Mutation_p.L195V NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 219 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 TCAGGGCTAAGATTAGGCCGA 0.517000 73 108 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63257542 63257542 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:63257542T>A ENST00000323865.3 - 1 238 c.5A>T c.(4-6)gAt>gTt p.D2V RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 2 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCTGAGCACATCCATGCCTGC 0.642000 9 31 0 0 1 0 0 RGL4 266747 broad.mit.edu 37 22 24039406 24039406 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:24039406G>C ENST00000290691.5 + 8 2380 c.1210G>C c.(1210-1212)Gat>Cat p.D404H RGL4_ENST00000401461.1_Missense_Mutation_p.D268H|KB-1572G7.2_ENST00000421064.1_RNA NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 404 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 ACAGAGGCTGGATTCGGCCAT 0.612000 15 71 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129851398 129851398 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:129851398C>G ENST00000373425.3 - 5 1919 c.1302G>C c.(1300-1302)caG>caC p.Q434H RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.Q132H NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 434 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 AGCCTCCCTTCTGGTAGTGGG 0.592000 20 60 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128075798 128075798 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:128075798C>G ENST00000409947.1 - 13 1423 c.1141G>C c.(1141-1143)Gaa>Caa p.E381Q MAP3K2_ENST00000344908.5_Missense_Mutation_p.E381Q Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 381 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding p.E381*(1) central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) ACAGCCAATTCTCTTCCTGTA 0.438000 21 104 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61912705 61912705 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:61912705G>A ENST00000394818.3 + 13 1982 c.1780G>A c.(1780-1782)Gag>Aag p.E594K INCENP_ENST00000278849.4_Missense_Mutation_p.E590K NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 594 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GATGAAGGAGGAGAAGAAGAA 0.602000 20 73 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102211934 102211934 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:102211934C>G ENST00000335968.3 - 14 2022 c.1806G>C c.(1804-1806)ttG>ttC p.L602F NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 602 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAAAGTCCATCAAGCTGTTCT 0.358000 19 66 0 0 1 0 0 SENP3 26168 broad.mit.edu 37 17 7466485 7466485 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:7466485G>A ENST00000321337.7 + 2 412 c.92G>A c.(91-93)cGt>cAt p.R31H SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.R31H NM_015670.5 NP_056485.2 Q9H4L4 SENP3_HUMAN SUMO1/sentrin/SMT3 specific peptidase 3 31 Pro-rich. ER -> DG (in Ref. 1; AAG33252). proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity central_nervous_system(1)|ovary(1) 2 Prostate(122;0.157) AGGCGGGAGCGTCTTCGTTGG 0.627000 11 6 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640347 57640347 + Missense_Mutation SNP A A C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:57640347A>C ENST00000254181.4 + 4 758 c.304A>C c.(304-306)Atc>Ctc p.I102L USP29_ENST00000598197.1_Missense_Mutation_p.I102L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 102 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCTGGACATAATCCACCAAAA 0.348000 3 71 0 0 1 0 0 GJD3 125111 broad.mit.edu 37 17 38519926 38519926 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:38519926C>T ENST00000337376.4 - 1 141 c.142G>A c.(142-144)Gag>Aag p.E48K CTD-2267D19.3_ENST00000578774.1_Silent_p.L246L|GJD3_ENST00000578689.1_Missense_Mutation_p.E48K Q8N144 CXD3_HUMAN gap junction protein, delta 3, 31.9kDa 48 cell communication|gap junction assembly cell surface|connexon complex|integral to plasma membrane protein binding Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) TCCTCTTGCTCGTCCTCGAAC 0.672000 10 14 0 0 1 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106797673 106797673 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:106797673C>G ENST00000265717.4 + 10 1286 c.1027C>G c.(1027-1029)Cga>Gga p.R343G NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 343 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity p.R343*(1) breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 AGAAATCGCTCGATGCTCGCG 0.448000 30 50 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41572327 41572327 + Missense_Mutation SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:41572327T>C ENST00000263253.7 + 30 6075 c.4856T>C c.(4855-4857)aTc>aCc p.I1619T RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1619 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GATCCTCTCATCCCCTGCGAT 0.542000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 36 118 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50688575 50688575 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:50688575G>A ENST00000216271.5 - 4 658 c.306C>T c.(304-306)tgC>tgT p.C102C HDAC10_ENST00000349505.4_Silent_p.C102C|HDAC10_ENST00000448072.1_Silent_p.C102C|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 102 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCAGCCGCGCGCAGTGAAAGG 0.652000 6 21 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86616674 86616674 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:86616674C>T ENST00000325875.3 + 3 1105 c.773C>T c.(772-774)aCa>aTa p.T258I NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 258 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 GATGAGCTTACAGCAAATAAT 0.393000 59 59 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70387459 70387459 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:70387459C>T ENST00000374051.3 + 6 1774 c.1452C>T c.(1450-1452)taC>taT p.Y484Y NLGN3_ENST00000536169.1_Silent_p.Y464Y|NLGN3_ENST00000358741.3_Silent_p.Y504Y|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 504 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CCTACTTCTACGCCTTCTATC 0.552000 4 81 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85607643 85607643 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:85607643C>G ENST00000310298.4 + 3 481 c.229C>G c.(229-231)Caa>Gaa p.Q77E PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77E|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77E|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5E O60658 PDE8A_HUMAN phosphodiesterase 8A 77 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GAGATTTCATCAAGATCAACT 0.363000 24 68 0 0 1 0 0 C1orf198 84886 broad.mit.edu 37 1 230979431 230979431 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:230979431C>T ENST00000366663.5 - 3 736 c.596G>A c.(595-597)cGa>cAa p.R199Q C1orf198_ENST00000523410.1_Missense_Mutation_p.R69Q|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.R161Q NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 199 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CCCCTCCCCTCGGGACCGCTC 0.627000 18 78 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424129 125424129 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:125424129C>T ENST00000373686.1 + 1 285 c.285C>T c.(283-285)atC>atT p.I95I OR1L1_ENST00000309623.1_Silent_p.I45I Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 ACCTGCTTATCATCCTGGCCA 0.488000 45 47 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028200 100028200 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:100028200C>T ENST00000310512.2 + 1 947 c.559C>T c.(559-561)Ctg>Ttg p.L187L MEPCE_ENST00000414441.1_Intron NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 187 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAACTTCCTCCTGGGGGGCAA 0.577000 14 98 0 0 1 0 0 LRRC34 151827 broad.mit.edu 37 3 169511424 169511424 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:169511424C>T ENST00000522526.2 - 10 1735 c.1298G>A c.(1297-1299)tGa>tAa p.*433* LRRC34_ENST00000446859.1_Silent_p.*465*|LRRC34_ENST00000522830.1_Silent_p.*404*|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000316515.7_Silent_p.*420* Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 0 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GCTACTTTTTCATGGCTGTTG 0.308000 24 66 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566389 45566389 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:45566389G>A ENST00000588982.1 - 3 1591 c.1090C>T c.(1090-1092)Cag>Tag p.Q364* ZBTB7C_ENST00000590800.1_Nonsense_Mutation_p.Q364*|ZBTB7C_ENST00000586438.1_Nonsense_Mutation_p.Q364*|ZBTB7C_ENST00000332053.2_Nonsense_Mutation_p.Q364*|ZBTB7C_ENST00000535628.2_Nonsense_Mutation_p.Q364* A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 364 intracellular nucleic acid binding|zinc ion binding p.Q364E(1) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGGCACTGCTGAGAGGCCTTG 0.617000 15 66 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67125787 67125787 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:67125787G>A ENST00000284425.2 - 7 1071 c.897C>T c.(895-897)gtC>gtT p.V299V NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 299 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GTATAAATATGACCATGAAGC 0.308000 16 89 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20107215 20107215 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:20107215G>T ENST00000294543.6 - 4 278 c.37C>A c.(37-39)Cag>Aag p.Q13K TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13K|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13K NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 13 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) AGAGGCTGCTGAGGCAGCCTC 0.607000 3 30 0.115264 0.116185 1 1 0 C12orf54 121273 broad.mit.edu 37 12 48884604 48884604 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:48884604G>C ENST00000314014.2 + 6 309 c.178G>C c.(178-180)Gat>Cat p.D60H RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.D60H NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 60 endometrium(1)|large_intestine(4) 5 GCTGCAGGAAGATGCTCGGAT 0.448000 27 85 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40693045 40693045 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:40693045G>C ENST00000298910.7 + 25 3540 c.3482G>C c.(3481-3483)aGa>aCa p.R1161T LRRK2_ENST00000343742.2_Missense_Mutation_p.R1161T NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1161 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 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) TTCAGTGCCAGAATGAATTTT 0.408000 34 137 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10268054 10268054 + Splice_Site SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:10268054G>T ENST00000256458.4 + 10 1299 c.e10-1 NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GTTCTCTCCAGGTGTTGGCCG 0.537000 31 26 8.16721e-17 8.85483e-17 1 1 0 PUM2 23369 broad.mit.edu 37 2 20511352 20511352 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:20511352C>A ENST00000361078.2 - 4 443 c.421G>T c.(421-423)Gac>Tac p.D141Y PUM2_ENST00000420234.1_Intron|PUM2_ENST00000403432.1_Missense_Mutation_p.D141Y|PUM2_ENST00000319801.5_Missense_Mutation_p.D141Y|PUM2_ENST00000338086.5_Missense_Mutation_p.D141Y|PUM2_ENST00000536417.1_Missense_Mutation_p.D85Y Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 141 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTTTTGGTCCTCCTCAAAT 0.398000 19 83 8.00594e-06 8.2276e-06 1 1 0 ADORA3 140 broad.mit.edu 37 1 112042613 112042613 + Missense_Mutation SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:112042613A>G ENST00000241356.4 - 2 1321 c.916T>C c.(916-918)Tct>Cct p.S306P ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 306 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled 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) AAAGAATCAGAGGGATGGCAG 0.413000 15 56 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23217697 23217697 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:23217697G>A ENST00000389131.3 - 3 806 c.437C>T c.(436-438)aCt>aTt p.T146I RP11-177H13.2_ENST00000519692.1_RNA NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 146 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CTTGCAGTCAGTGACGCCCCA 0.537000 9 26 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2077687 2077687 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:2077687C>G ENST00000382203.1 + 14 2304 c.2095C>G c.(2095-2097)Cag>Gag p.Q699E SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q699E|SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q699E|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q699E P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 699 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CAGGGGCTCCCAGTCCTACTA 0.507000 14 20 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79178556 79178556 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:79178556C>T ENST00000331268.5 + 5 550 c.346C>T c.(346-348)Caa>Taa p.Q116* MORF4L1_ENST00000558746.1_Nonsense_Mutation_p.Q77*|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000379535.4_Nonsense_Mutation_p.Q102*|MORF4L1_ENST00000426013.2_Nonsense_Mutation_p.Q77*|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000558502.1_5'UTR NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 116 double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 GCGAGAACTTCAAAAAGCCAA 0.378000 17 65 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2571043 2571043 + Silent SNP C C G rs150383216 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:2571043C>G ENST00000302956.4 + 3 373 c.279C>G c.(277-279)ctC>ctG p.L93L AMDHD2_ENST00000413459.3_Silent_p.L93L|AMDHD2_ENST00000293971.6_Silent_p.L93L|ATP6C_ENST00000569317.1_Silent_p.L46L Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 93 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GGGTTGCCCTCGTGGCCCGGA 0.612000 19 88 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142735698 142735698 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:142735698G>C ENST00000473835.2 + 6 541 c.451G>C c.(451-453)Gat>Cat p.D151H U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.D151H NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 151 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 ACATGAAACAGATGAAAAAAG 0.269000 10 23 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58830605 58830605 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:58830605C>T ENST00000414170.3 + 3 449 c.162C>T c.(160-162)ctC>ctT p.L54L LIPC_ENST00000356113.6_Silent_p.L54L|LIPC_ENST00000433326.2_Silent_p.L54L|LIPC_ENST00000299022.5_Silent_p.L54L P11150 LIPC_HUMAN lipase, hepatic 54 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GATTCCTGCTCTTTGGAGAAA 0.478000 53 201 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70120135 70120135 + Silent SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:70120135G>T ENST00000245479.2 + 3 1509 c.1137G>T c.(1135-1137)gcG>gcT p.A379A NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 379 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) agccacaggcgcACACGCTGA 0.761000 14 42 1.41608e-15 1.52743e-15 1 1 0 FANCA 2175 broad.mit.edu 37 16 89816263 89816263 + Silent SNP G G A rs55758861 by1000genomes TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:89816263G>A ENST00000389301.3 - 32 3144 c.3114C>T c.(3112-3114)ctC>ctT p.L1038L FANCA_ENST00000568369.1_Silent_p.L1038L NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1038 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGGTGTGGCCGAGAGGCACTA 0.602000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 36 50 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 5 140 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114430805 114430805 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:114430805C>T ENST00000454265.2 - 13 1831 c.973G>A c.(973-975)Gat>Aat p.D325N CAMK2D_ENST00000505990.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000515496.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000394526.2_Missense_Mutation_p.D325N|CAMK2D_ENST00000394522.3_Missense_Mutation_p.D325N|CAMK2D_ENST00000508738.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000511664.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000296402.5_Missense_Mutation_p.D325N|CAMK2D_ENST00000342666.5_Missense_Mutation_p.D325N|CAMK2D_ENST00000418639.2_Missense_Mutation_p.D325N|CAMK2D_ENST00000379773.2_Missense_Mutation_p.D325N|CAMK2D_ENST00000514328.1_Missense_Mutation_p.D324N|CAMK2D_ENST00000429180.1_Missense_Mutation_p.D325N|CAMK2D_ENST00000394524.3_Missense_Mutation_p.D325N Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 325 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) TTTACTCCATCTGGTTTCTTC 0.363000 10 44 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021138 5021138 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:5021138C>A ENST00000382545.3 + 2 1701 c.594C>A c.(592-594)ttC>ttA p.F198L 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) 198 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) ACAAGGACTTCACGGGCACCG 0.547000 14 65 1.5842e-08 1.65228e-08 1 1 0 ATP8B1 5205 broad.mit.edu 37 18 55315808 55315808 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:55315808G>A ENST00000536015.1 - 28 3787 c.3668C>T c.(3667-3669)tCc>tTc p.S1223F RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S1223F|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1223 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GCTGCGCCCGGAGGAGATGAG 0.701000 6 32 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117099426 117099426 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:117099426C>T ENST00000307564.4 - 22 4389 c.4228G>A c.(4228-4230)Gag>Aag p.E1410K AKNA_ENST00000374075.5_Missense_Mutation_p.E1329K|AKNA_ENST00000223791.3_Missense_Mutation_p.E870K|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.E1410K|AKNA_ENST00000374079.4_Missense_Mutation_p.E355K NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1410 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 CGGACGCTCTCGGCAGCCTGC 0.672000 12 21 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78652595 78652595 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:78652595C>G ENST00000504123.1 - 9 1100 c.970G>C c.(970-972)Gat>Cat p.D324H CNOT6L_ENST00000264903.4_Missense_Mutation_p.D324H Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 324 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CCAATGTTATCTTTTGTCATC 0.393000 11 53 0 0 1 0 0 NAPRT1 93100 broad.mit.edu 37 8 144658261 144658261 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:144658261C>G ENST00000449291.2 - 8 1388 c.1094G>C c.(1093-1095)cGa>cCa p.R365P RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R365P|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R365P|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R365P|NAPRT1_ENST00000460623.1_5'UTR Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 365 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTGGGCCAGTCGGGCCAGCGC 0.667000 9 14 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158618343 158618343 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:158618343G>A ENST00000368147.4 - 26 3850 c.3670C>T c.(3670-3672)Cgg>Tgg p.R1224W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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 p.R1224W(1) 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) CCCTCATGCCGTCGCTGAAGA 0.502000 20 86 0 0 1 0 0 HES4 57801 broad.mit.edu 37 1 935177 935177 + Silent SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:935177G>T ENST00000428771.2 - 1 375 c.177C>A c.(175-177)ccC>ccA p.P59P HES4_ENST00000304952.6_Intron|HES4_ENST00000484667.2_Intron NM_001142467.1|NM_021170.3 NP_001135939.1|NP_066993.1 Q9HCC6 HES4_HUMAN hes family bHLH transcription factor 4 36 Helix-loop-helix motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding lung(2) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACTGCGGGTCGGGCACCGGCT 0.716000 8 59 0.000157383 0.000160954 1 1 0 TCF23 150921 broad.mit.edu 37 2 27373017 27373017 + Silent SNP G G A rs146034019 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:27373017G>A ENST00000296096.5 + 2 379 c.249G>A c.(247-249)gcG>gcA p.A83A NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 83 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAATGCCGCGCGGGAGCGGA 0.657000 15 39 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29886018 29886018 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:29886018G>A ENST00000310624.6 + 4 2422 c.2389G>A c.(2389-2391)Gag>Aag p.E797K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 803 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CAAGTCCCCAGAGAAGGCGAA 0.552000 25 42 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53957948 53957948 + RNA SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:53957948C>G ENST00000454407.1 + 0 640 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GTCAACAGCGCAAGGCAACAG 0.373000 16 132 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36372536 36372536 + Splice_Site SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:36372536G>A ENST00000373204.4 + 12 1611 c.1398G>A c.(1396-1398)aaG>aaA p.K466K AGO1_ENST00000373206.1_Splice_Site_p.K391K NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GTGTGTACAGGAACTTCACAG 0.498000 35 46 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36123994 36123994 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:36123994C>G ENST00000262633.4 + 6 629 c.524C>G c.(523-525)tCt>tGt p.S175C RBM42_ENST00000589559.1_Intron|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000588161.1_Intron|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.S153C NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 175 cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTCTCTCCTCTGCAGCAGCC 0.682000 79 165 0 0 1 0 0 MMADHC 27249 broad.mit.edu 37 2 150432276 150432276 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:150432276C>A ENST00000428879.1 - 5 1062 c.558G>T c.(556-558)atG>atT p.M186I MMADHC_ENST00000303319.5_Missense_Mutation_p.M186I|MMADHC_ENST00000422782.2_Missense_Mutation_p.M186I Q9H3L0 MMAD_HUMAN methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 186 mitochondrion breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2) 11 TCCAAACAGTCATATCATTCT 0.279000 51 122 1.00776e-21 1.10398e-21 1 1 0 KCNIP4 80333 broad.mit.edu 37 4 21950212 21950212 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:21950212C>T ENST00000382152.2 - 1 210 c.43G>A c.(43-45)Gag>Aag p.E15K KCNIP4_ENST00000447367.2_Missense_Mutation_p.E15K NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 15 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GAGCTGGCCTCCTCCAGCTGA 0.642000 20 18 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228523514 228523514 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:228523514G>A ENST00000570156.2 + 74 19373 c.19299G>A c.(19297-19299)gaG>gaA p.E6433E OBSCN_ENST00000422127.1_Silent_p.E5476E|OBSCN_ENST00000366707.4_Silent_p.E3110E|OBSCN_ENST00000284548.11_Silent_p.E5476E|OBSCN_ENST00000366709.4_Silent_p.E2595E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5476 Ig-like 54. 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) AGGAGCAGGAGAAAGTGAAGG 0.607000 22 31 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32088772 32088772 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:32088772G>A ENST00000438447.1 + 20 5606 c.5218G>A c.(5218-5220)Gat>Aat p.D1740N PDZD2_ENST00000282493.3_Missense_Mutation_p.D1740N O15018 PDZD2_HUMAN PDZ domain containing 2 1740 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.D1740H(1) 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 TGACCTGCTAGATGACGAAAC 0.473000 47 108 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14744711 14744711 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:14744711G>C ENST00000253697.3 + 6 1272 c.820G>C c.(820-822)Gag>Cag p.E274Q C3orf20_ENST00000412910.1_Missense_Mutation_p.E152Q|C3orf20_ENST00000435614.1_Missense_Mutation_p.E152Q NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 274 cytoplasm|integral to membrane p.E274*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 CAACAGCCTGGAGTTCAGCGA 0.587000 165 190 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233464285 233464285 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:233464285G>A ENST00000366624.3 + 1 772 c.511G>A c.(511-513)Gag>Aag p.E171K MLK4_ENST00000366623.3_Missense_Mutation_p.E171K NM_032435.2 NP_115811.2 CGTGCGGCGCGAGGCTCGGCT 0.741000 5 6 0 0 1 0 0 CALR3 125972 broad.mit.edu 37 19 16601209 16601209 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:16601209C>T ENST00000269881.3 - 3 428 c.366G>A c.(364-366)ctG>ctA p.L122L CTD-3222D19.2_ENST00000409035.1_Intron NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 122 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 ATTTTCCATTCAGGTTCTTCT 0.423000 34 70 0 0 1 0 0 PDHX 8050 broad.mit.edu 37 11 34991767 34991767 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:34991767C>T ENST00000448838.3 + 7 1095 c.853C>T c.(853-855)Cat>Tat p.H285Y PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.H300Y NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 300 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) TACTGTACCTCATGCATATGC 0.388000 22 38 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648300 130648300 + Nonsense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr12:130648300C>A ENST00000229030.4 + 1 1297 c.813C>A c.(811-813)tgC>tgA p.C271* FZD10_ENST00000539839.1_Missense_Mutation_p.R239S Q9ULW2 FZD10_HUMAN frizzled family receptor 10 271 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TGTGCTACTGCGTCTACTCCG 0.652000 24 127 3.83957e-06 3.95877e-06 1 1 0 SIAE 54414 broad.mit.edu 37 11 124509731 124509731 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:124509731G>A ENST00000263593.3 - 8 1171 c.999C>T c.(997-999)gaC>gaT p.D333D SIAE_ENST00000545756.1_Silent_p.D298D Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 333 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) GAAATCCATCGTCTGAGCTCT 0.438000 46 55 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49962307 49962307 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:49962307C>G ENST00000293350.4 + 3 447 c.284C>G c.(283-285)gCg>gGg p.A95G ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A95G|ALDH16A1_ENST00000598015.1_Intron|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000433981.2_Intron NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 95 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GGCTGGAGTGCGCACCCCGGC 0.667000 46 87 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186123073 186123073 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:186123073G>C ENST00000271588.4 + 97 15439 c.15210G>C c.(15208-15210)caG>caC p.Q5070H HMCN1_ENST00000367492.2_Missense_Mutation_p.Q5070H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5070 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTATAACCAGATAGAAGAGA 0.378000 7 43 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158049446 158049446 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:158049446T>A ENST00000359775.5 + 4 1520 c.631T>A c.(631-633)Tat>Aat p.Y211N ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.Y211N Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 211 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CAGATTTTTTTATATGTTTAT 0.373000 42 163 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884029 53884029 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:53884029C>G ENST00000467003.1 + 4 290 c.89C>G c.(88-90)aCa>aGa p.T30R ZNF525_ENST00000474037.1_Missense_Mutation_p.T66R|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 CAAGGCAATACAGAAGTGATC 0.358000 7 186 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34004017 34004017 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:34004017C>T ENST00000538487.2 - 9 2313 c.1870G>A c.(1870-1872)Gaa>Aaa p.E624K GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.E508K|GRM4_ENST00000455714.2_Missense_Mutation_p.E484K|GRM4_ENST00000535756.1_Missense_Mutation_p.E491K|GRM4_ENST00000374181.4_Missense_Mutation_p.E624K|GRM4_ENST00000544773.2_Missense_Mutation_p.E455K|GRM4_ENST00000609222.1_Missense_Mutation_p.E491K NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TAGCTCAGTTCACGGCCCGAG 0.622000 11 20 0 0 1 0 0 SURF6 6838 broad.mit.edu 37 9 136198878 136198878 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:136198878G>A ENST00000372022.4 - 5 1178 c.913C>T c.(913-915)Cgc>Tgc p.R305C SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 305 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) TCCCACCGGCGCTGCCGCTGC 0.701000 11 24 0 0 1 0 0 ETV4 2118 broad.mit.edu 37 17 41622708 41622708 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:41622708C>T ENST00000319349.5 - 3 386 c.88G>A c.(88-90)Gaa>Aaa p.E30K ETV4_ENST00000545089.1_Missense_Mutation_p.E30K|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000393664.2_Missense_Mutation_p.E30K|ETV4_ENST00000591713.1_Missense_Mutation_p.E30K|ETV4_ENST00000545954.1_5'UTR|ETV4_ENST00000538265.1_5'UTR NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 30 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) ATCAGCGCTTCGCGCAAGCTC 0.647000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 5 9 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65298804 65298804 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:65298804C>G ENST00000377990.2 + 3 777 c.574C>G c.(574-576)Cag>Gag p.Q192E CEP68_ENST00000546106.1_Missense_Mutation_p.Q192E|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q192E NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 192 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTCCGCAGCTCAGCCTTCCAG 0.622000 6 36 0 0 1 0 0 SLC36A3 285641 broad.mit.edu 37 5 150660715 150660715 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:150660715G>C ENST00000335230.3 - 9 1415 c.1004C>G c.(1003-1005)tCt>tGt p.S335C SLC36A3_ENST00000377713.3_Missense_Mutation_p.S376C NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 335 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGCCGATAGAGTACATCAG 0.517000 18 56 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31383331 31383331 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:31383331C>A ENST00000328111.2 + 11 1564 c.1243C>A c.(1243-1245)Cag>Aag p.Q415K DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q353K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q407K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q395K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q319K|DNMT3B_ENST00000375623.4_Silent_p.I304I NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 415 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGATGAAGATCAGAGCCGAGG 0.557000 24 250 6.12954e-19 6.68003e-19 1 1 0 SETD6 79918 broad.mit.edu 37 16 58550536 58550536 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:58550536G>C ENST00000394266.4 + 5 480 c.424G>C c.(424-426)Gaa>Caa p.E142Q SETD6_ENST00000219315.4_Missense_Mutation_p.E211Q|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Missense_Mutation_p.E187Q Q8TBK2 SETD6_HUMAN SET domain containing 6 211 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 TCGCTCCCTAGAACTCTACCA 0.562000 13 41 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140139595 140139595 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:140139595G>A ENST00000344774.4 - 4 652 c.598C>T c.(598-600)Cag>Tag p.Q200* FAM166A_ENST00000388932.2_Nonsense_Mutation_p.Q200* NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 200 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 GGCAGCCGCTGGAAGCTGCCC 0.682000 33 37 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689954 21689954 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:21689954G>T ENST00000398485.2 + 4 1208 c.1154G>T c.(1153-1155)gGc>gTc p.G385V PAX1_ENST00000444366.2_Missense_Mutation_p.G361V|PAX1_ENST00000460221.1_3'UTR NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 385 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCGGGCGGCGGCTACCTCGCC 0.766000 19 19 7.87624e-14 8.43788e-14 1 1 0 AMOTL2 51421 broad.mit.edu 37 3 134077385 134077385 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:134077385G>C ENST00000514516.1 - 9 2630 c.2452C>G c.(2452-2454)Ctg>Gtg p.L818V AMOTL2_ENST00000422605.2_Missense_Mutation_p.L760V|AMOTL2_ENST00000513145.1_Missense_Mutation_p.L758V|AMOTL2_ENST00000249883.5_Missense_Mutation_p.L761V NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 760 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GACTTACCCAGAGAGGCTGCT 0.642000 OREG0015814 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 33 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20337687 20337687 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:20337687G>T ENST00000302555.5 - 2 216 c.67C>A c.(67-69)Ctg>Atg p.L23M GP2_ENST00000381360.5_Missense_Mutation_p.L23M|GP2_ENST00000381362.4_Missense_Mutation_p.L23M|GP2_ENST00000341642.5_Missense_Mutation_p.L23M P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 23 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GCCTGGGTCAGAATGCAGGAG 0.537000 11 76 5.16669e-11 5.46094e-11 1 1 0 DST 667 broad.mit.edu 37 6 56483332 56483332 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:56483332C>G ENST00000370765.6 - 23 5607 c.5500G>C c.(5500-5502)Gag>Cag p.E1834Q DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1245 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTATCAGCTCATCCTCAAGT 0.403000 37 137 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94578588 94578588 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:94578588G>C ENST00000370225.3 - 2 187 c.101C>G c.(100-102)tCt>tGt p.S34C ABCA4_ENST00000535735.1_Missense_Mutation_p.S34C NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 34 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAGAAATAAAGATAAAGGCCA 0.428000 47 70 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187373 140187373 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:140187373G>A ENST00000530339.1 + 1 601 c.601G>A c.(601-603)Gac>Aac p.D201N PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D201N|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D201N|PCDHA3_ENST00000522353.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAATCTTTAGACAGAGAAGA 0.453000 21 92 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42734247 42734247 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr13:42734247G>A ENST00000261491.5 + 7 851 c.830G>A c.(829-831)tGg>tAg p.W277* DGKH_ENST00000379274.2_Nonsense_Mutation_p.W141*|DGKH_ENST00000540693.1_Nonsense_Mutation_p.W277*|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Nonsense_Mutation_p.W277*|DGKH_ENST00000536612.1_Nonsense_Mutation_p.W141* NM_152910.4 NP_690874.2 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CTACAGGATTGGAAATGCCTT 0.478000 69 184 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43242520 43242520 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr15:43242520C>G ENST00000290650.4 - 46 5126 c.5048G>C c.(5047-5049)aGa>aCa p.R1683T UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1683 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) GGCACAGCCTCTGGCTTTACC 0.398000 22 78 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10396725 10396725 + Missense_Mutation SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:10396725A>T ENST00000377086.1 + 29 3256 c.3054A>T c.(3052-3054)gaA>gaT p.E1018D KIF1B_ENST00000263934.6_Missense_Mutation_p.E972D|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1018D O60333 KIF1B_HUMAN kinesin family member 1B 1018 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CGGATGAAGAAGCTCCTGATT 0.398000 104 311 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 5 156 0.184627 0.184627 1 1 0 RBM27 54439 broad.mit.edu 37 5 145649132 145649132 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:145649132G>A ENST00000265271.5 + 17 2842 c.2676G>A c.(2674-2676)gtG>gtA p.V892V RBM27_ENST00000506502.1_Silent_p.V837V NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 892 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCTAAAGTGAAGACAAAAA 0.353000 9 45 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21413861 21413861 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:21413861G>A ENST00000313654.9 + 24 3134 c.2893G>A c.(2893-2895)Gag>Aag p.E965K LAMA3_ENST00000399516.3_Missense_Mutation_p.E965K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 965 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTATTCCACGGAGGCAGCTCA 0.547000 46 164 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891096 44891096 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:44891096G>A ENST00000330997.4 - 4 1375 c.1311C>T c.(1309-1311)ttC>ttT p.F437F ZNF285_ENST00000591679.1_Silent_p.F444F|ZNF285_ENST00000544719.2_Silent_p.F437F|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 p.F437F(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TACATTGGCTGAAGCCCTTTC 0.473000 44 74 0 0 1 0 0 RPL7A 6130 broad.mit.edu 37 9 136216479 136216479 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:136216479G>A ENST00000323345.6 + 3 228 c.198G>A c.(196-198)caG>caA p.Q66Q RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR NM_000972.2 NP_000963.1 P62424 RL7A_HUMAN ribosomal protein L7a 66 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome RNA binding|structural constituent of ribosome cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05) TGCAGCGGCAGAGAGCCATCC 0.562000 25 32 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136481760 136481760 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:136481760G>A ENST00000264160.4 + 26 3568 c.3198G>A c.(3196-3198)caG>caA p.Q1066Q R3HDM1_ENST00000409478.1_Silent_p.Q938Q|R3HDM1_ENST00000410054.1_Silent_p.Q1011Q|R3HDM1_ENST00000409606.1_Silent_p.Q1067Q|R3HDM1_ENST00000329971.3_Silent_p.Q937Q NM_001282798.1|NM_015361.2 NP_001269727.1|NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 1066 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CAGCTGCACAGAATGCACTGA 0.463000 22 26 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113232208 113232208 + Silent SNP C C G rs71659369 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:113232208C>G ENST00000369644.1 + 5 1374 c.345C>G c.(343-345)ctC>ctG p.L115L MOV10_ENST00000357443.2_Silent_p.L171L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.L171L|MOV10_ENST00000369645.1_Silent_p.L171L Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 171 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCTTCCCACTCTGCCGGACAC 0.562000 24 91 0 0 1 0 0 SPINT2 10653 broad.mit.edu 37 19 38782645 38782645 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:38782645G>A ENST00000301244.7 + 7 1193 c.758G>A c.(757-759)tGa>tAa p.*253* SPINT2_ENST00000454580.3_Silent_p.*196*|SPINT2_ENST00000587090.1_Silent_p.*203*|CTB-102L5.4_ENST00000591889.1_Intron NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 0 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TATGTCCTGTGACCGCCCTGT 0.557000 5 22 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785773 140785773 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:140785773G>A ENST00000370515.3 - 2 476 c.143C>T c.(142-144)tCg>tTg p.S48L NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TAGTATGGTCGAGGACTCAGA 0.502000 84 323 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52090294 52090294 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:52090294C>G ENST00000262259.2 + 5 1068 c.710C>G c.(709-711)tCt>tGt p.S237C ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 237 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) AGCCATAGCTCTTCTGATGCC 0.433000 10 87 0 0 1 0 0 ATG4B 23192 broad.mit.edu 37 2 242610825 242610825 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:242610825G>C ENST00000405546.3 + 12 1615 c.1113G>C c.(1111-1113)gaG>gaC p.E371D ATG4B_ENST00000404914.3_Intron|ATG4B_ENST00000396411.3_Intron|ATG4B_ENST00000474739.2_Intron|ATG4B_ENST00000402096.1_Missense_Mutation_p.E297D Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 371 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) CCCTAGGTGAGAGCTGCCAAG 0.607000 10 19 0 0 1 0 0 HOXD9 3235 broad.mit.edu 37 2 176988685 176988685 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:176988685C>T ENST00000249499.6 + 2 1250 c.841C>T c.(841-843)Cac>Tac p.H281Y HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 281 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GAACTGGATCCACGCTCGCTC 0.587000 21 96 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150742300 150742300 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:150742300G>T ENST00000358849.4 + 16 2114 c.2021G>T c.(2020-2022)gGg>gTg p.G674V ABCB8_ENST00000498578.1_Missense_Mutation_p.G649V|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.G691V|ABCB8_ENST00000542328.1_Missense_Mutation_p.G586V NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 691 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCAGGCTGGGACACATGAA 0.617000 23 86 7.87624e-14 8.43788e-14 1 1 0 PLXNB2 23654 broad.mit.edu 37 22 50716925 50716925 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:50716925G>A ENST00000449103.1 - 30 4811 c.4671C>T c.(4669-4671)atC>atT p.I1557I PLXNB2_ENST00000359337.4_Silent_p.I1557I O15031 PLXB2_HUMAN plexin B2 1557 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCTTGGACAGGATGAGGGTGG 0.697000 4 6 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123976234 123976234 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:123976234G>C ENST00000369005.1 + 11 7777 c.7437G>C c.(7435-7437)caG>caC p.Q2479H TACC2_ENST00000358010.1_Missense_Mutation_p.Q625H|TACC2_ENST00000334433.3_Missense_Mutation_p.Q2479H|TACC2_ENST00000515603.1_Missense_Mutation_p.Q2434H|TACC2_ENST00000369001.1_Missense_Mutation_p.Q183H|TACC2_ENST00000453444.2_Missense_Mutation_p.Q2483H|TACC2_ENST00000369000.1_Missense_Mutation_p.Q179H|TACC2_ENST00000368999.1_Missense_Mutation_p.Q569H|TACC2_ENST00000513429.1_Missense_Mutation_p.Q625H|TACC2_ENST00000369004.3_Missense_Mutation_p.Q569H|TACC2_ENST00000360561.3_Missense_Mutation_p.Q557H|TACC2_ENST00000260733.3_Missense_Mutation_p.Q557H|TACC2_ENST00000515273.1_Missense_Mutation_p.Q2483H NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2479 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCACCAACCAGAAGTGGACGT 0.562000 33 142 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349171 89349171 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:89349171G>A ENST00000301030.4 - 9 4239 c.3779C>T c.(3778-3780)tCg>tTg p.S1260L ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1260L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1260 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTTGTCCGACTTCTCTTT 0.473000 31 109 0 0 1 0 0 ARTN 9048 broad.mit.edu 37 1 44402340 44402340 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:44402340G>A ENST00000414809.3 + 5 1372 c.590G>A c.(589-591)cGa>cAa p.R197Q ARTN_ENST00000498139.2_Missense_Mutation_p.R197Q|ARTN_ENST00000372354.3_Missense_Mutation_p.R189Q|ARTN_ENST00000438616.3_Missense_Mutation_p.R206Q|ARTN_ENST00000372359.5_Missense_Mutation_p.R189Q NM_057090.2 NP_476431.2 Q5T4W7 ARTN_HUMAN artemin 189 axon guidance|neuroblast proliferation|signal transduction extracellular region growth factor activity Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCCTGCTGCCGACCCACGCGC 0.741000 8 10 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72985134 72985134 + Missense_Mutation SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:72985134A>T ENST00000553530.1 + 15 1374 c.1167A>T c.(1165-1167)caA>caT p.Q389H RGS6_ENST00000343854.6_Missense_Mutation_p.Q352H|RGS6_ENST00000553525.1_Missense_Mutation_p.Q389H|RGS6_ENST00000554782.1_Missense_Mutation_p.Q250H|RGS6_ENST00000407322.4_Missense_Mutation_p.Q389H|RGS6_ENST00000555571.1_Missense_Mutation_p.Q389H|RGS6_ENST00000355512.6_Missense_Mutation_p.Q389H|RGS6_ENST00000434263.2_Missense_Mutation_p.Q320H|RGS6_ENST00000556437.1_Missense_Mutation_p.Q389H|RGS6_ENST00000402788.2_Missense_Mutation_p.Q389H|RGS6_ENST00000406236.4_Missense_Mutation_p.Q389H|RGS6_ENST00000404301.2_Missense_Mutation_p.Q389H 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 6 389 RGS. 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) AAATCTGGCAAGAGTTTCTGG 0.473000 15 21 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79054602 79054602 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:79054602C>T ENST00000446378.2 + 7 11168 c.11137C>T c.(11137-11139)Cag>Tag p.Q3713* CMYA5_ENST00000505466.1_3'UTR NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3713 Fibronectin type-III 1. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATTAGAACCTCAGGAACCAAA 0.383000 24 41 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353090 105353090 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr14:105353090C>T ENST00000453495.1 + 12 2745 c.2517C>T c.(2515-2517)gtC>gtT p.V839V CEP170B_ENST00000418279.1_Silent_p.V768V|CEP170B_ENST00000414716.3_Silent_p.V838V|CEP170B_ENST00000556508.1_Silent_p.V768V centrosomal protein 170B GCGTCTATGTCAGTGCCAATG 0.637000 26 19 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68192637 68192637 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:68192637G>A ENST00000294304.7 + 15 3410 c.3304G>A c.(3304-3306)Gag>Aag p.E1102K NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1102 Beta-propeller 4. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGACGGCACCGAGCGCGAGGT 0.662000 47 49 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056322 44056322 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:44056322C>T ENST00000262887.5 - 9 1476 c.929G>A c.(928-930)cGa>cAa p.R310Q XRCC1_ENST00000543982.1_Missense_Mutation_p.R279Q P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 310 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) TGGGCCAGCTCGGGGTCGTCT 0.652000 Other BER factors 9 65 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975882 20975882 + Missense_Mutation SNP A A T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:20975882A>T ENST00000261383.3 - 53 9323 c.9324T>A c.(9322-9324)gaT>gaA p.D3108E DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3108 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTAGTTGCTATCAGAGAACT 0.473000 25 159 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582134 180582134 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:180582134C>T ENST00000328275.1 + 1 192 c.192C>T c.(190-192)ctC>ctT p.L64L NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTTCTTCCTCAGCCAGCTCT 0.537000 49 185 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133506166 133506166 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:133506166G>A ENST00000319725.9 + 13 1344 c.1269G>A c.(1267-1269)gaG>gaA p.E423E NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 423 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TCATAGATGAGAAAGTTGGCG 0.562000 16 29 0 0 1 0 0 TIGD6 81789 broad.mit.edu 37 5 149375675 149375675 + Silent SNP A A G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr5:149375675A>G ENST00000296736.3 - 2 1011 c.237T>C c.(235-237)gaT>gaC p.D79D TIGD6_ENST00000515406.2_Silent_p.D79D NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 79 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AAACAGCCTTATCAATGTCAT 0.443000 61 265 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45228060 45228060 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:45228060G>A ENST00000372217.1 + 17 1983 c.1632G>A c.(1630-1632)caG>caA p.Q544Q KIF2C_ENST00000372222.3_Silent_p.Q485Q|KIF2C_ENST00000372224.4_Silent_p.Q598Q|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Silent_p.Q557Q Q99661 KIF2C_HUMAN kinesin family member 2C 598 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) GTGGAGAGCAGTTGATTCAAA 0.552000 44 39 0 0 1 0 0 GATAD2A 54815 broad.mit.edu 37 19 19612807 19612807 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:19612807C>T ENST00000404158.1 + 12 1951 c.1533C>T c.(1531-1533)ttC>ttT p.F511F GATAD2A_ENST00000360315.3_Silent_p.F510F|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000537887.1_Silent_p.F139F|GATAD2A_ENST00000252577.5_Intron|GATAD2A_ENST00000358713.3_Silent_p.F510F Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 510 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 AGTTGGCGTTCCGCTCAGGAG 0.667000 49 102 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105793805 105793805 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:105793805C>G ENST00000353479.5 - 52 4344 c.4054G>C c.(4054-4056)Gaa>Caa p.E1352Q COL17A1_ENST00000369733.3_Missense_Mutation_p.E1270Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1352 Triple-helical region. 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) ATGCCGCCTTCTGCTGCTGCC 0.597000 21 67 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812136 2812136 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:2812136C>T ENST00000301740.8 + 11 2156 c.1607C>T c.(1606-1608)tCt>tTt p.S536F NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 536 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CGCTCTAGGTCTCCTCAGCGA 0.602000 29 47 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440706 124440706 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:124440706G>C ENST00000284287.3 + 1 814 c.742G>C c.(742-744)Gag>Cag p.E248Q NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E248K(1) 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) CAGCACCACAGAGGGGAGATC 0.478000 26 33 0 0 1 0 0 AKR7A2 8574 broad.mit.edu 37 1 19633868 19633868 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:19633868C>T ENST00000235835.3 - 4 649 c.628G>A c.(628-630)Gag>Aag p.E210K NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 210 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGGAAGAGCTCCGTTTCCACC 0.592000 31 32 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133342 57133342 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:57133342C>T ENST00000328070.6 + 3 921 c.687C>T c.(685-687)ctC>ctT p.L229L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 229 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTTCCTCTCTCACCCAGCACG 0.642000 10 74 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128796359 128796359 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr10:128796359C>G ENST00000280333.6 + 8 722 c.613C>G c.(613-615)Caa>Gaa p.Q205E NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 205 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TACACAGTCTCAAAAGCAGAA 0.388000 22 33 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579131 55579131 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:55579131C>T ENST00000333973.2 + 1 278 c.189C>T c.(187-189)ctC>ctT p.L63L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) ACTTTTTCCTCAGCCACTTGT 0.458000 203 223 0 0 1 0 0 RHD 6007 broad.mit.edu 37 1 25628143 25628143 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:25628143C>T ENST00000328664.4 + 5 922 c.767C>T c.(766-768)tCa>tTa p.S256L RHD_ENST00000357542.4_Missense_Mutation_p.S256L|RHD_ENST00000454452.2_Missense_Mutation_p.S256L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.S256L|RHD_ENST00000423810.2_Missense_Mutation_p.S256L|RHD_ENST00000417538.2_Missense_Mutation_p.S256L|RHD_ENST00000342055.5_Missense_Mutation_p.S256L NM_001282867.1|NM_016124.3 NP_001269796.1|NP_057208 Q02161 RHD_HUMAN Rh blood group, D antigen 256 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ATCTCAGGGTCATCCTTGGCT 0.537000 31 135 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162274332 162274332 + Missense_Mutation SNP A A C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:162274332A>C ENST00000389554.3 + 2 1155 c.838A>C c.(838-840)Aat>Cat p.N280H NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 280 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 AGCGGACACCAATGTGCAAGG 0.433000 12 60 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237754279 237754279 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:237754279C>T ENST00000366574.2 + 31 4464 c.4147C>T c.(4147-4149)Cgt>Tgt p.R1383C RYR2_ENST00000542537.1_Missense_Mutation_p.R1367C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1381C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1383 4 X approximate repeats.|B30.2/SPRY 3. 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) AAAGCCCTCTCGTCTGAAACA 0.398000 3 29 0 0 1 0 0 PDCD10 11235 broad.mit.edu 37 3 167414821 167414821 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:167414821G>C ENST00000392750.2 - 5 661 c.244C>G c.(244-246)Cgt>Ggt p.R82G PDCD10_ENST00000471885.1_Missense_Mutation_p.R82G|PDCD10_ENST00000497056.2_Missense_Mutation_p.R82G|PDCD10_ENST00000473645.2_Missense_Mutation_p.R82G|PDCD10_ENST00000487947.2_Missense_Mutation_p.R82G|PDCD10_ENST00000470131.1_Missense_Mutation_p.R82G|PDCD10_ENST00000492396.1_Missense_Mutation_p.R19G|PDCD10_ENST00000461494.1_Missense_Mutation_p.R82G NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 82 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 GCTGCCATACGAAGAAGGGAC 0.348000 38 89 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52883194 52883194 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:52883194G>C ENST00000356971.3 - 8 1086 c.597C>G c.(595-597)ctC>ctG p.L199L ICK_ENST00000350082.5_Silent_p.L199L NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 199 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) CTCCAGGGAAGAGTGGCCTGA 0.507000 49 133 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132230063 132230063 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:132230063G>A ENST00000260818.6 + 44 5516 c.5268G>A c.(5266-5268)ctG>ctA p.L1756L NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1756 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGGAGGCTCTGAGAAATGTCA 0.403000 48 95 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157688927 157688927 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:157688927C>G ENST00000502773.1 - 5 1409 c.919G>C c.(919-921)Gag>Cag p.E307Q PDGFC_ENST00000542208.1_Missense_Mutation_p.E152Q|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E144Q NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 307 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATACCTACCTCGTGGTATTTT 0.378000 6 78 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3104472 3104472 + Missense_Mutation SNP A A C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:3104472A>C ENST00000259808.4 + 8 1227 c.929A>C c.(928-930)aAc>aCc p.N310T RIPK1_ENST00000380409.2_Missense_Mutation_p.N310T|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.N264T Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 310 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GAGTATTCAAACGAAAATGCA 0.343000 13 49 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49104485 49104485 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:49104485G>A ENST00000263266.3 - 5 1507 c.1318C>T c.(1318-1320)Cgc>Tgc p.R440C NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 440 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GACAGATAGCGGAGGCGGTGG 0.706000 7 24 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 621835 621835 + Silent SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:621835C>A ENST00000588649.2 - 10 1947 c.1863G>T c.(1861-1863)ctG>ctT p.L621L NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 621 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGCGGCTTCAGGATGCCGA 0.682000 9 41 7.48243e-07 7.76548e-07 1 1 0 ILK 3611 broad.mit.edu 37 11 6631497 6631497 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:6631497G>C ENST00000396751.2 + 11 1653 c.1197G>C c.(1195-1197)gaG>gaC p.E399D ILK_ENST00000420936.2_Missense_Mutation_p.E399D|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.E338D|ILK_ENST00000299421.4_Missense_Mutation_p.E399D|ILK_ENST00000537806.1_Missense_Mutation_p.E265D NM_001014795.1 NP_001014795.1 Q13418 ILK_HUMAN integrin-linked kinase 399 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) CCAATATGGAGATTGGAATGA 0.483000 15 45 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104753643 104753643 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:104753643C>T ENST00000334877.4 + 26 5848 c.5314C>T c.(5314-5316)Cat>Tat p.H1772Y KMT2E_ENST00000311117.3_Missense_Mutation_p.H1814Y|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1814Y|SRPK2_ENST00000493638.1_Intron lysine (K)-specific methyltransferase 2E GTTCTGTCCTCATCCTGGCTC 0.552000 19 57 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803652 185803652 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:185803652C>G ENST00000302277.6 + 4 4123 c.3529C>G c.(3529-3531)Ctt>Gtt p.L1177V NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1177 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGCTTCCGTTCTTCATCCTAG 0.512000 43 162 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548384 50548384 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:50548384G>C ENST00000595661.1 + 6 1179 c.684G>C c.(682-684)tgG>tgC p.W228C CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.W216C|ZNF473_ENST00000391821.2_Missense_Mutation_p.W228C|ZNF473_ENST00000270617.3_Missense_Mutation_p.W228C|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 228 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CCCAGCACTGGATCACTCATA 0.488000 35 95 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880050 100880050 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:100880050G>A ENST00000341189.4 + 5 947 c.81G>A c.(79-81)ctG>ctA p.L27L ARMCX3_ENST00000537169.1_Silent_p.L27L|ARMCX3_ENST00000471229.2_Silent_p.L27L NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 27 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 TTTATAGACTGACTAGGGGAA 0.537000 39 20 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653114 55653114 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:55653114G>A ENST00000449290.2 + 2 302 c.210G>A c.(208-210)ttG>ttA p.L70L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 70 intracellular zinc ion binding ACATTTGTTTGAAGAACATGG 0.473000 30 25 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366584 248366584 + Missense_Mutation SNP T T A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:248366584T>A ENST00000456743.1 + 1 253 c.215T>A c.(214-216)aTg>aAg p.M72K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 72 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) ATGGACCTCATGCTCATCTGC 0.512000 78 328 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17616823 17616823 + Silent SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:17616823G>T ENST00000262077.2 - 21 4277 c.4278C>A c.(4276-4278)gcC>gcA p.A1426A NUP153_ENST00000537253.1_Silent_p.A1457A NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1426 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GCTGGGCTGAGGCTGCAGGTG 0.463000 30 50 4.22769e-11 4.47597e-11 1 1 0 RIT2 6014 broad.mit.edu 37 18 40323575 40323575 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:40323575C>T ENST00000326695.5 - 5 708 c.537G>A c.(535-537)agG>agA p.R179R RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR NM_002930.2 NP_002921.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 179 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGCGAATTTCCCTCACTAAGC 0.418000 27 82 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813775 158813775 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:158813775G>A ENST00000368141.4 + 4 694 c.433G>A c.(433-435)Gaa>Aaa p.E145K NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 145 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AGAAAAGACTGAAGCCAAAAG 0.428000 18 93 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093183 77093183 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:77093183C>T ENST00000328299.3 + 4 818 c.670C>T c.(670-672)Ctg>Ttg p.L224L NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 224 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TACCTTCCTTCTGGCCATGGA 0.423000 25 118 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57910013 57910013 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:57910013C>T ENST00000366197.5 + 3 608 c.358C>T c.(358-360)Cag>Tag p.Q120* AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Q132*|AC003002.6_ENST00000596400.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAGCTTTTTCAGCACCCAAA 0.448000 35 87 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19447816 19447816 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:19447816C>T ENST00000375267.2 - 68 10011 c.10008G>A c.(10006-10008)ctG>ctA p.L3336L UBR4_ENST00000375217.2_Silent_p.L3329L|UBR4_ENST00000375254.3_Silent_p.L3336L|UBR4_ENST00000375226.2_Silent_p.L3312L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3336 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AAGAGGCTGCCAGTGCAGCGA 0.577000 14 59 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45317864 45317864 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:45317864G>A ENST00000589651.1 + 8 979 c.925G>A c.(925-927)Gag>Aag p.E309K BCAM_ENST00000270233.6_Missense_Mutation_p.E309K P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) Ig-like C2-type 1.|Interaction with laminin alpha5. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CTCCCAGGATGAGCAGGAGGA 0.602000 18 45 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138255724 138255724 + Silent SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:138255724T>C ENST00000343526.4 + 11 2069 c.1854T>C c.(1852-1854)tcT>tcC p.S618S TRIM24_ENST00000415680.2_Silent_p.S584S O15164 TIF1A_HUMAN tripartite motif containing 24 618 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TGGGAGGGTCTTATAATCTTC 0.478000 55 115 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41486186 41486186 + Silent SNP G G C rs140351391 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:41486186G>C ENST00000359345.1 - 1 2723 c.147C>G c.(145-147)ctC>ctG p.L49L SLFNL1_ENST00000372613.2_Silent_p.L49L|SLFNL1_ENST00000439569.2_Silent_p.L49L|SLFNL1_ENST00000372611.1_Silent_p.L49L|SLFNL1_ENST00000302946.8_Silent_p.L49L|SLFNL1_ENST00000397197.2_Silent_p.L49L NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 49 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) GGCCCACATAGAGAGTGTGCG 0.657000 39 64 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8168743 8168743 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:8168743C>T ENST00000314666.6 + 19 2551 c.2418C>T c.(2416-2418)ctC>ctT p.L806L PFAS_ENST00000545834.1_Silent_p.L382L NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 806 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGACTCCCTCAGCATGGCTG 0.652000 35 40 0 0 1 0 0 CC2D1B 200014 broad.mit.edu 37 1 52822056 52822056 + Splice_Site SNP C C T rs142476933 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:52822056C>T ENST00000371586.2 - 17 2093 c.1955G>A c.(1954-1956)cGa>cAa p.R652Q CC2D1B_ENST00000438831.1_Splice_Site_p.R27Q|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Splice_Site_p.R646Q NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 652 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 TTGCACTTACCGGGTGGTCTC 0.567000 58 107 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73499210 73499210 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:73499210C>T ENST00000321617.3 - 18 2531 c.1945G>A c.(1945-1947)Gag>Aag p.E649K CASKIN2_ENST00000433559.2_Missense_Mutation_p.E567K NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 649 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCAGTCCCTCGATGGCCATC 0.701000 4 7 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168315992 168315992 + Missense_Mutation SNP C C T rs139174764 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:168315992C>T ENST00000366806.2 + 18 2565 c.2423C>T c.(2422-2424)tCg>tTg p.S808L MLLT4_ENST00000351017.4_Missense_Mutation_p.S815L|MLLT4_ENST00000447894.2_Missense_Mutation_p.S808L|MLLT4_ENST00000392108.3_Missense_Mutation_p.S808L|MLLT4_ENST00000344191.4_Missense_Mutation_p.S808L|MLLT4_ENST00000400822.3_Missense_Mutation_p.S807L|MLLT4_ENST00000392112.1_Missense_Mutation_p.S792L P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 808 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GACCCAGATTCGGGGCTGTGC 0.557000 T MLL AL 6 41 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640274 156640274 + Nonsense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr1:156640274G>A ENST00000368223.3 - 4 3838 c.3706C>T c.(3706-3708)Cag>Tag p.Q1236* NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1236 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGAGGCTGAGGCCCAGGG 0.637000 50 73 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198067 185198067 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:185198067C>G ENST00000265026.3 + 13 2883 c.2549C>G c.(2548-2550)tCt>tGt p.S850C MAP3K13_ENST00000443863.1_Missense_Mutation_p.S706C|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S706C|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S643C|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S850C NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 850 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ACCTTTAGCTCTGAGAATTTC 0.458000 41 104 0 0 1 0 0 FDCSP 260436 broad.mit.edu 37 4 71098717 71098717 + Nonsense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr4:71098717C>T ENST00000317987.5 + 3 176 c.64C>T c.(64-66)Caa>Taa p.Q22* NM_152997.3 NP_694542.1 Q8NFU4 FDSCP_HUMAN follicular dendritic cell secreted protein 22 extracellular region TTAGGTCTCTCAAGACCAGGA 0.274000 24 133 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 32 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16552643 16552643 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:16552643C>T ENST00000380672.4 - 5 611 c.554G>A c.(553-555)cGg>cAg p.R185Q BNC2_ENST00000380666.2_Missense_Mutation_p.R185Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R90Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R118Q NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GATCTTTAGCCGCACAGGCAC 0.567000 14 54 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10250074 10250074 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr17:10250074C>T ENST00000418404.3 - 12 1349 c.1186G>A c.(1186-1188)Gaa>Aaa p.E396K MYH13_ENST00000252172.4_Missense_Mutation_p.E396K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 396 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTCAGCATTTCTGCAGAATTC 0.463000 6 29 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68725808 68725808 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr16:68725808G>A ENST00000264012.4 + 13 2525 c.1981G>A c.(1981-1983)Ggg>Agg p.G661R CDH3_ENST00000429102.2_Missense_Mutation_p.G661R|CDH3_ENST00000581171.1_Missense_Mutation_p.G606R NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 661 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CCCTGTGCTGGGGGCTGTCCT 0.602000 24 43 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42524794 42524794 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr22:42524794G>T ENST00000360608.5 - 4 772 c.658C>A c.(658-660)Ctg>Atg p.L220M NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.L220M|CYP2D6_ENST00000359033.4_Missense_Mutation_p.L169M|NDUFA6-AS1_ENST00000439129.1_RNA NM_000106.5 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 220 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACCTCGCGCAGAAAGCCCGAC 0.667000 3 28 6.4e-05 6.55584e-05 1 1 0 ACTR8 93973 broad.mit.edu 37 3 53910037 53910037 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:53910037G>A ENST00000335754.3 - 7 949 c.849C>T c.(847-849)gaC>gaT p.D283D ACTR8_ENST00000231909.7_Silent_p.D33D|ACTR8_ENST00000482349.1_Silent_p.D172D NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 283 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) GGTCCCCAACGTCTACAATAC 0.512000 8 72 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14022107 14022107 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:14022107C>T ENST00000382080.1 - 5 1244 c.529G>A c.(529-531)Gaa>Aaa p.E177K RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.E130K NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 164 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) TTCAGCTTTTCAGCCCCAATG 0.398000 15 37 0 0 1 0 0 CLDN15 24146 broad.mit.edu 37 7 100875904 100875904 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr7:100875904C>T ENST00000401528.1 - 5 1687 c.562G>A c.(562-564)Gac>Aac p.D188N CLDN15_ENST00000308344.5_Missense_Mutation_p.D188N NM_001185080.1 NP_001172009.1 P56746 CLD15_HUMAN claudin 15 188 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) GGGTCCTCGTCAGAGCCGCAG 0.731000 6 6 0 0 1 0 0 RNF126 55658 broad.mit.edu 37 19 651729 651729 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:651729C>T ENST00000292363.5 - 4 480 c.325G>A c.(325-327)Gag>Aag p.E109K NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 109 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCGGCTCTCAGGGTCCCTG 0.716000 11 19 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69457924 69457924 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:69457924C>T ENST00000227507.2 + 2 551 c.324C>T c.(322-324)ttC>ttT p.F108F CCND1_ENST00000536559.1_Intron NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 108 Cyclin N-terminal. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) CTTGCATGTTCGTGGCCTCTA 0.612000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 5 54 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135720467 135720467 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:135720467G>A ENST00000264977.3 + 2 744 c.127G>A c.(127-129)Gac>Aac p.D43N PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 43 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACATGGAATTGACTGCATTGT 0.458000 32 78 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:145147383C>G ENST00000558170.2 - 10 4464 c.3280G>C c.(3280-3282)Gag>Cag p.E1094Q ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070Q|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094Q NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1094 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.E1094K(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCGCGCGCCTCGCGCTCCGCC 0.617000 13 66 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68030216 68030216 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:68030216C>T ENST00000304271.6 - 4 649 c.247G>A c.(247-249)Gac>Aac p.D83N C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Missense_Mutation_p.D83N NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 83 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 CTGCTTGTGTCCTCTGTTGTG 0.537000 21 63 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784377 8784377 + Missense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr18:8784377G>C ENST00000359865.3 + 6 1409 c.1267G>C c.(1267-1269)Gag>Cag p.E423Q SOGA2_ENST00000400050.3_Missense_Mutation_p.E423Q|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.E423Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E783Q NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 774 GGAAATGTTTGAGAAGACGTC 0.647000 18 51 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251498 129251498 + Missense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:129251498C>A ENST00000296271.3 + 4 913 c.819C>A c.(817-819)ttC>ttA p.F273L NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 273 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) GCGTGGCATTCTACATCTTCA 0.557000 29 56 2.61193e-14 2.80772e-14 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52595952 52595952 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:52595952C>G ENST00000356770.4 - 24 4025 c.4023G>C c.(4021-4023)aaG>aaC p.K1341N SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Missense_Mutation_p.K1373N|PBRM1_ENST00000296302.7_Missense_Mutation_p.K1373N|PBRM1_ENST00000409767.1_Missense_Mutation_p.K1388N|PBRM1_ENST00000409114.3_Missense_Mutation_p.K1388N|PBRM1_ENST00000337303.4_Missense_Mutation_p.K1373N|PBRM1_ENST00000394830.3_Missense_Mutation_p.K1321N|PBRM1_ENST00000410007.1_Missense_Mutation_p.K1348N Q86U86 PB1_HUMAN polybromo 1 1373 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AGCCTTCCTTCTTTGCACTGC 0.443000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 16 102 0 0 1 0 0 SCAND1 51282 broad.mit.edu 37 20 34541723 34541723 + Nonsense_Mutation SNP C C A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr20:34541723C>A ENST00000373991.3 - 3 1554 c.484G>T c.(484-486)Gag>Tag p.E162* SCAND1_ENST00000305978.2_Nonsense_Mutation_p.E162* P57086 SCND1_HUMAN SCAN domain containing 1 162 SCAN box. viral reproduction nucleus identical protein binding|sequence-specific DNA binding transcription factor activity Breast(12;0.00631)|all_lung(11;0.0233) CGAGCCGCCTCGGGCAGGATG 0.726000 34 7 4.14481e-20 4.52487e-20 1 1 0 ZNF35 7584 broad.mit.edu 37 3 44701147 44701147 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:44701147C>G ENST00000396056.2 + 4 1527 c.1292C>G c.(1291-1293)tCt>tGt p.S431C ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.S271C NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 431 Missing (in Ref. 1; CAA30268). cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AGTCAGCTCTCTTGCCTTATT 0.443000 28 57 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8617036 8617036 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:8617036C>G ENST00000338257.8 - 7 784 c.517G>C c.(517-519)Gag>Cag p.E173Q NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 173 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 AACTGGATCTCAAAGTACTTG 0.557000 31 141 0 0 1 0 0 VPS37C 55048 broad.mit.edu 37 11 60906235 60906235 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:60906235C>G ENST00000301765.5 - 2 299 c.67G>C c.(67-69)Gac>Cac p.D23H NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 23 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GCCAGCTGGTCAATCGCCTCC 0.557000 14 36 0 0 1 0 0 GPR31 2853 broad.mit.edu 37 6 167571251 167571251 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:167571251C>T ENST00000366834.1 - 1 566 c.69G>A c.(67-69)ctG>ctA p.L23L NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 23 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) GCCCACACTCCAGCCCCAGCA 0.657000 7 19 0 0 1 0 0 RNF126 55658 broad.mit.edu 37 19 651727 651727 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:651727C>T ENST00000292363.5 - 4 482 c.327G>A c.(325-327)gaG>gaA p.E109E NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 109 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGCCGGCTCTCAGGGTCCC 0.716000 11 18 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40367816 40367816 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:40367816C>T ENST00000221347.6 - 29 13151 c.13144G>A c.(13144-13146)Gag>Aag p.E4382K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4382 TIL 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGGGGCCCTCACATACGGCT 0.637000 10 32 0 0 1 0 0 HSD17B3 3293 broad.mit.edu 37 9 99017208 99017208 + Silent SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr9:99017208G>C ENST00000375263.3 - 3 266 c.219C>G c.(217-219)ctC>ctG p.L73L HSD17B3_ENST00000375262.2_Silent_p.L73L NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 73 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) GGACAACATTGAGTCCACGTT 0.512000 8 29 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38649676 38649676 + Missense_Mutation SNP C C G TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr3:38649676C>G ENST00000413689.1 - 8 1157 c.964G>C c.(964-966)Gat>Cat p.D322H SCN5A_ENST00000414099.2_Missense_Mutation_p.D322H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D322H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D322H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D322H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D322H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D322H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D322H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D322H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D322H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 322 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) AGTAACACATCAGAGGTGCCG 0.547000 46 107 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877596 2877596 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr19:2877596C>T ENST00000586426.1 + 4 724 c.637C>T c.(637-639)Cgt>Tgt p.R213C ZNF556_ENST00000307635.2_Missense_Mutation_p.R214C Q9HAH1 ZN556_HUMAN zinc finger protein 556 214 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) GACATTTCTTCGTTCCCACTC 0.498000 27 54 0 0 1 0 0 LOXL3 84695 broad.mit.edu 37 2 74761548 74761555 + Frame_Shift_Del DEL TGTGGTAA TGTGGTAA - TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr2:74761548_74761555delTGTGGTAA ENST00000264094.3 - 11 1898_1905 c.1827_1834delTTACCACA c.(1825-1836)cattaccacagcfs p.HYHS609fs LOXL3_ENST00000393937.2_Frame_Shift_Del_p.HYHS464fs|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Del_p.HYHS553fs|LOXL3_ENST00000409986.1_Frame_Shift_Del_p.HYHS464fs NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 609 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 ATGTCCATGCTGTGGTAATGCCTGTGGG 0.534 7 65 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agcagg>agg p.S81del RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|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)|sequence-specific DNA binding|transcription factor binding p.S81R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCTCCTCCTCctgctgctgctgc 0.685 2 4 --- --- --- --- IKBKB 3551 broad.mit.edu 37 8 42171858 42171885 + Frame_Shift_Del DEL GAAGAGTGAGGTGGACATTGTTGTTAGC GAAGAGTGAGGTGGACATTGTTGTTAGC - rs151151310 byFrequency TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr8:42171858_42171885delGAAGAGTGAGGTGGACATTGTTGTTAGC ENST00000520810.1 + 9 897_924 c.711_738delGAAGAGTGAGGTGGACATTGTTGTTAGC c.(709-738)cagaagagtgaggtggacattgttgttagcfs p.QKSEVDIVVS237fs IKBKB_ENST00000520835.1_Frame_Shift_Del_p.QKSEVDIVVS235fs|IKBKB_ENST00000379708.3_Frame_Shift_Del_p.QKSEVDIVVS14fs|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Frame_Shift_Del_p.QKSEVDIVVS178fs NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 237 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AAGTGCGGCAGAAGAGTGAGGTGGACATTGTTGTTAGCGAAGACTTGA 0.421 7 105 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321927 66321928 + RNA INS - - A rs141435934 TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chr11:66321927_66321928insA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gaccctgtctcaaaaaaaaaaa 0.540 5 5 --- --- --- --- KAL1 3730 broad.mit.edu 37 X 8565138 8565138 + Frame_Shift_Del DEL C C - TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eb767a9-f80b-4845-b783-27005a8a6b34 d683b1c3-abc9-4ac0-a058-fbd57f06546f g.chrX:8565138delC ENST00000262648.3 - 4 627 c.478delG c.(478-480)gtgfs p.V160fs NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 160 WAP. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 CATTTCTTCACCCCAGAGCAC 0.542 33 33 --- --- --- ---