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 NFYC 4802 broad.mit.edu 37 1 41235027 41235027 + Splice_Site SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:41235027G>A ENST00000372652.1 + 9 1096 c.e9-1 NFYC_ENST00000456393.2_Splice_Site|NFYC_ENST00000447388.3_Splice_Site|NFYC_ENST00000440226.3_Splice_Site|NFYC_ENST00000425457.2_Splice_Site|NFYC_ENST00000372651.1_Splice_Site|NFYC_ENST00000372654.1_Splice_Site|NFYC_ENST00000308733.5_Splice_Site|NFYC_ENST00000427410.2_Splice_Site|NFYC_ENST00000372653.1_Splice_Site Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GATTCTTACAGATTACACAGA 0.507000 9 93 0 0 0.006214 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530075 80530075 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:80530075G>T ENST00000295057.3 - 2 1526 c.870C>A c.(868-870)aaC>aaA p.N290K CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.N290K|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 290 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AGGTGAGGCGGTTGGAGTCCA 0.602000 HNSCC(69;0.2) 13 32 1.5739e-10 1.69862e-10 0.004007 1 0 MAMDC4 158056 broad.mit.edu 37 9 139751179 139751179 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:139751179G>A ENST00000445819.1 + 17 2025 c.1975G>A c.(1975-1977)Gag>Aag p.E659K MAMDC4_ENST00000317446.2_Missense_Mutation_p.E580K|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 659 MAM 4. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTGTAACTTTGAGCGGGACAC 0.662000 10 23 0 0 0.006214 0 0 CAPN7 23473 broad.mit.edu 37 3 15276644 15276644 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:15276644G>C ENST00000253693.2 + 12 1652 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 467 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 GGATATTAGAGAGTTCAAGGT 0.393000 5 22 0 0 0.001168 0 0 EXO1 9156 broad.mit.edu 37 1 242045251 242045251 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:242045251C>T ENST00000366548.3 + 14 2736 c.2143C>T c.(2143-2145)Caa>Taa p.Q715* EXO1_ENST00000518483.1_Nonsense_Mutation_p.Q715*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.Q715* NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 715 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACTTGACAGTCAAAGTGACCA 0.279000 Editing and processing nucleases 4 44 0 0 0.000602 0 0 PADI3 51702 broad.mit.edu 37 1 17609457 17609457 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:17609457C>G ENST00000375460.3 + 16 1918 c.1878C>G c.(1876-1878)ctC>ctG p.L626L NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 626 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CGCTGGGCCTCCACTGCACCT 0.587000 7 54 0 0 0.001984 0 0 RGP1 9827 broad.mit.edu 37 9 35751957 35751957 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:35751957C>T ENST00000378078.4 + 8 908 c.767C>T c.(766-768)tCa>tTa p.S256L RGP1_ENST00000456972.2_Missense_Mutation_p.S296L NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 256 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCCAGTTTTCAGTCAGCTTA 0.577000 5 24 0 0 0.000602 0 0 DSG2 1829 broad.mit.edu 37 18 29104495 29104495 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr18:29104495C>T ENST00000261590.8 + 7 984 c.775C>T c.(775-777)Cag>Tag p.Q259* NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 259 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGCTCAAGTTCAGATTCGTAT 0.343000 5 35 0 0 0.000602 0 0 CD46 4179 broad.mit.edu 37 1 207966940 207966940 + Nonstop_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:207966940G>C ENST00000441839.2 + 11 1251 c.1095G>C c.(1093-1095)taG>taC p.*365Y CD46_ENST00000322918.5_Nonstop_Mutation_p.*350Y|CD46_ENST00000354848.1_3'UTR|CD46_ENST00000357714.1_3'UTR|CD46_ENST00000322875.4_3'UTR|CD46_ENST00000480003.1_3'UTR|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000367042.1_3'UTR|CD46_ENST00000360212.2_3'UTR|CD46_ENST00000361067.1_3'UTR|CD46_ENST00000367047.1_3'UTR|CD46_ENST00000469535.1_3'UTR P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 0 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 AGGCTGAATAGATTCCACAAC 0.413000 6 36 0 0 0.001984 0 0 TNXB 7148 broad.mit.edu 37 6 32023635 32023635 + Silent SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:32023635A>G ENST00000375244.3 - 24 8661 c.8460T>C c.(8458-8460)ggT>ggC p.G2820G TNXB_ENST00000375247.2_Silent_p.G2820G P22105 TENX_HUMAN tenascin XB 2878 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.G2820G(1)|p.G2907G(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CACCTGTCACACCCACGGTGG 0.582000 5 77 0 0 0.000602 0 0 RFC4 5984 broad.mit.edu 37 3 186507847 186507847 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:186507847C>T ENST00000392481.2 - 11 1284 c.1003G>A c.(1003-1005)Gac>Aac p.D335N RFC4_ENST00000296273.2_Missense_Mutation_p.D335N|RFC4_ENST00000433496.1_Missense_Mutation_p.D308N NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 335 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) AGGCATTTGTCAACTTCCTAC 0.378000 9 71 0 0 0.008291 0 0 RASSF8 11228 broad.mit.edu 37 12 26217552 26217552 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:26217552C>G ENST00000405154.2 + 3 424 c.225C>G c.(223-225)ctC>ctG p.L75L RASSF8_ENST00000282884.9_Silent_p.L75L|RASSF8_ENST00000541490.1_Silent_p.L75L|RASSF8_ENST00000542865.1_Silent_p.L75L|RASSF8_ENST00000381352.3_Silent_p.L75L NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 75 Ras-associating. signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) ATGTGCAGCTCATTCTACGAC 0.463000 21 109 0 0 0.014323 0 0 XIRP2 129446 broad.mit.edu 37 2 168103755 168103755 + Silent SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:168103755T>G ENST00000409195.1 + 9 5942 c.5853T>G c.(5851-5853)gcT>gcG p.A1951A XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A1951A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.A1729A|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1776 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 ATGCTAAAGCTGTGATGGCAG 0.403000 8 43 0 0 0.006214 0 0 GNB5 10681 broad.mit.edu 37 15 52446255 52446255 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:52446255C>T ENST00000261837.7 - 4 322 c.257G>A c.(256-258)cGg>cAg p.R86Q GNB5_ENST00000358784.7_Missense_Mutation_p.R44Q|GNB5_ENST00000560116.1_Missense_Mutation_p.R44Q|GNB5_ENST00000396335.4_Missense_Mutation_p.R44Q NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 86 heterotrimeric G-protein complex GTPase activity|signal transducer activity p.R86Q(1) large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GGCCTCCACCCGCTCCGCCAC 0.562000 9 29 0 0 0.004482 0 0 FYN 2534 broad.mit.edu 37 6 112035585 112035585 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:112035585A>T ENST00000354650.3 - 5 915 c.309T>A c.(307-309)ttT>ttA p.F103L FYN_ENST00000356013.2_Missense_Mutation_p.F103L|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Missense_Mutation_p.F103L|FYN_ENST00000368682.3_Missense_Mutation_p.F103L|FYN_ENST00000368678.4_Missense_Mutation_p.F103L|FYN_ENST00000368667.2_Missense_Mutation_p.F103L|FYN_ENST00000538466.1_Missense_Mutation_p.F103L NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 103 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CTCCTTTGTGAAAACTCAGGT 0.428000 5 58 0 0 0.000602 0 0 PREP 5550 broad.mit.edu 37 6 105824004 105824004 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:105824004G>C ENST00000369110.3 - 4 573 c.381C>G c.(379-381)ctC>ctG p.L127L NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 127 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ACTTACCTCGGAGTGCCACTG 0.522000 17 38 0 0 0.006122 0 0 TEAD1 7003 broad.mit.edu 37 11 12785959 12785959 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:12785959A>T ENST00000361905.4 + 3 800 c.135A>T c.(133-135)ttA>ttT p.L45F TEAD1_ENST00000361985.2_Missense_Mutation_p.L60F|TEAD1_ENST00000334310.6_Missense_Mutation_p.L45F|TEAD1_ENST00000527575.1_Missense_Mutation_p.L60F|TEAD1_ENST00000527636.1_Missense_Mutation_p.L60F NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 60 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AAATCATCTTATCAGACGAAG 0.488000 23 42 0 0 0.003330 0 0 EBF3 253738 broad.mit.edu 37 10 131641455 131641455 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:131641455C>T ENST00000368648.3 - 12 1185 c.1113G>A c.(1111-1113)ctG>ctA p.L371L EBF3_ENST00000355311.5_Silent_p.L380L NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 380 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCGCCCGCTTCAGTAACACCT 0.602000 4 10 0 0 0.009096 0 0 ZNF75D 7626 broad.mit.edu 37 X 134426280 134426280 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:134426280C>T ENST00000370766.3 - 4 3240 c.531G>A c.(529-531)tgG>tgA p.W177* ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 177 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GGTATGTATTCCAATATTCTT 0.498000 5 77 0 0 0.001168 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606027 13606027 + Missense_Mutation SNP C C T rs79874260 by1000genomes TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:13606027C>T ENST00000040738.5 - 10 2632 c.2497G>A c.(2497-2499)Gct>Act p.A833T NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 833 Lys-rich. DNA binding GTTTTTTCAGCTGACAAGCGT 0.353000 6 17 0 0 0.001168 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135856 32135856 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:32135856C>T ENST00000312561.4 + 4 2381 c.1967C>T c.(1966-1968)tCa>tTa p.S656L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAAGAATCCTCAACAAAAGGA 0.423000 6 59 0 0 0.001984 0 0 NANP 140838 broad.mit.edu 37 20 25604531 25604531 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:25604531G>A ENST00000304788.3 - 1 280 c.54C>T c.(52-54)atC>atT p.I18I NM_152667.2 NP_689880.1 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 18 N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity endometrium(2)|lung(2)|prostate(1) 5 CGGCCGTGTCGATGAGAGTGT 0.701000 4 26 0 0 0.009096 0 0 NLRP4 147945 broad.mit.edu 37 19 56369423 56369423 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:56369423C>G ENST00000301295.6 + 3 1086 c.664C>G c.(664-666)Caa>Gaa p.Q222E NLRP4_ENST00000346986.5_Missense_Mutation_p.Q222E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q147E NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 222 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GATCGTGTCTCAACCGGAGAG 0.547000 4 89 0 0 0.009096 0 0 SLC16A4 9122 broad.mit.edu 37 1 110921808 110921808 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:110921808C>T ENST00000369779.4 - 6 946 c.697G>A c.(697-699)Gaa>Aaa p.E233K SLC16A4_ENST00000472422.2_Missense_Mutation_p.E185K|SLC16A4_ENST00000437429.2_Missense_Mutation_p.E123K|SLC16A4_ENST00000541986.1_Missense_Mutation_p.E171K|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'UTR NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 233 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GTAGACTCTTCTGTCTCATGG 0.423000 39 90 0 0 0.008740 0 0 ANKAR 150709 broad.mit.edu 37 2 190559831 190559831 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:190559831C>G ENST00000520309.1 + 6 1520 c.1432C>G c.(1432-1434)Caa>Gaa p.Q478E ANKAR_ENST00000438402.2_Missense_Mutation_p.Q478E|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q407E|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q478E|ANKAR_ENST00000281412.6_Missense_Mutation_p.Q242E|ANKAR_ENST00000461516.1_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 478 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GACAGATGCTCAATTACATGA 0.338000 4 47 0 0 0.000602 0 0 COLEC12 81035 broad.mit.edu 37 18 480723 480723 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr18:480723G>A ENST00000400256.3 - 2 249 c.42C>T c.(40-42)ttC>ttT p.F14F NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 14 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCTTGTAACCGAAGGATTGCA 0.552000 12 49 0 0 0.013537 0 0 CD109 135228 broad.mit.edu 37 6 74516607 74516607 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:74516607C>G ENST00000437994.2 + 25 3432 c.3001C>G c.(3001-3003)Cct>Gct p.P1001A CD109_ENST00000422508.2_Missense_Mutation_p.P924A|CD109_ENST00000287097.5_Missense_Mutation_p.P1001A NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1001 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGAAGCCGATCCTTACATAGA 0.343000 4 30 0 0 0.000602 0 0 MAFB 9935 broad.mit.edu 37 20 39316788 39316788 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:39316788C>T ENST00000373313.2 - 1 1092 c.703G>A c.(703-705)Gag>Aag p.E235K MAFB_ENST00000396967.1_Missense_Mutation_p.E235K NM_005461.3 NP_005452.2 Q9Y5Q3 MAFB_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 235 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) CGGATCACCTCGTCCTTGGTG 0.647000 T IGH@ MM 5 12 0 0 0.000602 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744345 31744345 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr21:31744345G>A ENST00000399889.2 - 1 212 c.187C>T c.(187-189)Ccc>Tcc p.P63S NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 63 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CAGCTGGTGGGCTCCCAGCAG 0.602000 23 43 0 0 0.012319 0 0 VPS13D 55187 broad.mit.edu 37 1 12337106 12337106 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:12337106G>A ENST00000358136.3 + 19 3591 c.3461G>A c.(3460-3462)gGa>gAa p.G1154E VPS13D_ENST00000356315.4_Missense_Mutation_p.G1154E NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1154 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGAGAACAAGGAACTTACCAG 0.393000 5 84 0 0 0.000602 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418065 105418065 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:105418065G>A ENST00000333244.5 - 7 3842 c.3723C>T c.(3721-3723)ggC>ggT p.G1241G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1241 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCCTTTGAAGCCGGCTCCCT 0.642000 78 36 0 0 0.014410 0 0 ZNF211 10520 broad.mit.edu 37 19 58152803 58152803 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:58152803G>A ENST00000544273.1 + 5 1312 c.985G>A c.(985-987)Gaa>Aaa p.E329K ZNF211_ENST00000240731.4_Missense_Mutation_p.E330K|ZNF211_ENST00000541801.1_Missense_Mutation_p.E308K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E308K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E321K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E256K|ZNF211_ENST00000347302.3_Missense_Mutation_p.E317K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E382K Q13398 ZN211_HUMAN zinc finger protein 211 317 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCGTGCCCTGAATGTGGGAA 0.408000 18 79 0 0 0.006122 0 0 TTL 150465 broad.mit.edu 37 2 113251798 113251798 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:113251798C>G ENST00000233336.5 + 3 506 c.315C>G c.(313-315)ctC>ctG p.L105L NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 105 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) CAACCAATCTCAAGACTCCAG 0.443000 T ETV6 ALL 10 52 0 0 0.001855 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105354 75105354 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:75105354C>T ENST00000309664.5 + 1 298 c.159C>T c.(157-159)ttC>ttT p.F53F LMAN1L_ENST00000379709.3_Silent_p.F53F NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 53 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAATACCCTTCTGGAGCCATC 0.617000 23 31 0 0 0.003330 0 0 RICTOR 253260 broad.mit.edu 37 5 38944623 38944623 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:38944623C>T ENST00000357387.3 - 36 4868 c.4838G>A c.(4837-4839)cGc>cAc p.R1613H RICTOR_ENST00000296782.5_Missense_Mutation_p.R1637H NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1613 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AACTTCTTTGCGAAGGAGTAT 0.333000 28 86 0 0 0.007291 0 0 CD80 941 broad.mit.edu 37 3 119246643 119246643 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:119246643C>T ENST00000264246.3 - 6 1204 c.842G>A c.(841-843)aGa>aAa p.R281K CD80_ENST00000478182.1_Missense_Mutation_p.R281K|CD80_ENST00000383668.3_Missense_Mutation_p.R155K|CD80_ENST00000383669.3_Missense_Mutation_p.R249K NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 281 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) ACTTTCCCTTCTCAATCTCTC 0.453000 11 95 0 0 0.002450 0 0 TRMT10A 93587 broad.mit.edu 37 4 100474995 100474995 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:100474995C>T ENST00000273962.3 - 6 904 c.592G>A c.(592-594)Gat>Aat p.D198N TRMT10A_ENST00000394876.2_Missense_Mutation_p.D198N|TRMT10A_ENST00000394877.3_Missense_Mutation_p.D198N NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) TTTGATTCATCTAATTCCTTC 0.323000 6 45 0 0 0.001168 0 0 CBWD6 644019 broad.mit.edu 37 9 69238279 69238279 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:69238279T>C ENST00000377457.5 - 8 718 c.613A>G c.(613-615)Aca>Gca p.T205A CBWD6_ENST00000382399.4_Missense_Mutation_p.T185A|CBWD6_ENST00000377449.1_Missense_Mutation_p.T169A NM_001085457.1 NP_001078926.1 Q4V339 CBWD6_HUMAN COBW domain containing 6 205 ATP binding lung(4) 4 ACCAAGTCTGTTTTATTAATG 0.313000 35 110 0 0 0.009718 0 0 FDCSP 260436 broad.mit.edu 37 4 71099858 71099858 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:71099858C>T ENST00000317987.5 + 4 324 c.212C>T c.(211-213)cCa>cTa p.P71L NM_152997.3 NP_694542.1 Q8NFU4 FDSCP_HUMAN follicular dendritic cell secreted protein 71 Pro-rich. extracellular region TTTCCTATTCCAATACCTGAA 0.408000 42 85 0 0 0.006999 0 0 ACER1 125981 broad.mit.edu 37 19 6309843 6309843 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:6309843G>A ENST00000301452.4 - 4 430 c.353C>T c.(352-354)tCc>tTc p.S118F NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 118 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GATGAACTGGGACCTGGGGAG 0.617000 6 32 0 0 0.001168 0 0 NGDN 25983 broad.mit.edu 37 14 23945265 23945265 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:23945265G>A ENST00000397154.3 + 7 461 c.448G>A c.(448-450)Gaa>Aaa p.E150K NGDN_ENST00000408901.3_Missense_Mutation_p.E150K Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 150 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GGAGGAAGATGAAGCAGAAGA 0.423000 5 61 0 0 0.000602 0 0 SYNE1 23345 broad.mit.edu 37 6 152770688 152770688 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:152770688C>G ENST00000367255.5 - 28 4085 c.3484G>C c.(3484-3486)Gag>Cag p.E1162Q SYNE1_ENST00000413186.2_Missense_Mutation_p.E1162Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1169Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1228Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1152Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1169Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1162 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) CGTTTAACCTCTCCGTGGTTG 0.403000 HNSCC(10;0.0054) 25 46 0 0 0.004656 0 0 AHCYL2 23382 broad.mit.edu 37 7 129028933 129028933 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:129028933C>T ENST00000325006.3 + 3 566 c.512C>T c.(511-513)tCg>tTg p.S171L AHCYL2_ENST00000531335.2_Missense_Mutation_p.S90L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S69L|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S170L NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 171 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GATGAGACATCGCCCAGGGAC 0.398000 19 49 0 0 0.010504 0 0 PPP2R3B 28227 broad.mit.edu 37 X 306382 306382 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:306382G>A ENST00000390665.3 - 7 923 c.905C>T c.(904-906)gCg>gTg p.A302V NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 302 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTTGATGTCCGCCTCCTCCTC 0.637000 19 45 0 0 0.012319 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867698 7867698 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:7867698C>G ENST00000264669.5 - 2 635 c.499G>C c.(499-501)Gaa>Caa p.E167Q FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 167 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGCTCCTTTTCAAACTGAAAG 0.413000 8 108 0 0 0.006214 0 0 ACER3 55331 broad.mit.edu 37 11 76709867 76709867 + Splice_Site SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:76709867T>C ENST00000532485.1 + 7 601 c.e7+2 ACER3_ENST00000533873.1_Splice_Site|ACER3_ENST00000538157.1_Splice_Site|ACER3_ENST00000544113.1_Splice_Site|ACER3_ENST00000526597.1_Splice_Site NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 TGTTACATGGTAAGTAGTTTG 0.318000 7 29 0 0 0.004482 0 0 STRN 6801 broad.mit.edu 37 2 37126701 37126701 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:37126701C>T ENST00000263918.4 - 6 768 c.760G>A c.(760-762)Gat>Aat p.D254N STRN_ENST00000379213.2_Missense_Mutation_p.D242N NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 254 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TCTCTTCCATCAACATCATCA 0.338000 4 47 0 0 0.001168 0 0 MKRN3 7681 broad.mit.edu 37 15 23812217 23812217 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:23812217C>A ENST00000314520.3 + 1 1764 c.1288C>A c.(1288-1290)Cct>Act p.P430T MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 430 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGGAGATGAGCCTCCTGGGCC 0.522000 15 46 5.01169e-05 5.23118e-05 0.004990 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64085380 64085380 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:64085380T>A ENST00000295902.6 - 8 2467 c.1882A>T c.(1882-1884)Att>Ttt p.I628F PRICKLE2_ENST00000564377.1_Missense_Mutation_p.I684F|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 628 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTGTAGCCAATGGGGTTGCTG 0.602000 35 34 0 0 0.003755 0 0 NELL2 4753 broad.mit.edu 37 12 45173642 45173642 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:45173642C>T ENST00000429094.2 - 4 1003 c.499G>A c.(499-501)Gac>Aac p.D167N NELL2_ENST00000551601.1_Missense_Mutation_p.D166N|NELL2_ENST00000437801.2_Missense_Mutation_p.D217N|NELL2_ENST00000333837.4_Missense_Mutation_p.D190N|NELL2_ENST00000452445.2_Missense_Mutation_p.D167N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.D166N|NELL2_ENST00000549027.1_Missense_Mutation_p.D166N NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 167 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTATTGCAGTCAATGTGTAAA 0.403000 8 82 0 0 0.003080 0 0 CNR1 1268 broad.mit.edu 37 6 88853849 88853849 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:88853849C>A ENST00000537554.1 - 2 4707 c.1145G>T c.(1144-1146)tGc>tTc p.C382F CNR1_ENST00000549716.1_Missense_Mutation_p.C321F|CNR1_ENST00000369499.2_Missense_Mutation_p.C382F|CNR1_ENST00000428600.2_Missense_Mutation_p.C382F|CNR1_ENST00000369501.2_Missense_Mutation_p.C382F|CNR1_ENST00000549890.1_Missense_Mutation_p.C382F|CNR1_ENST00000468898.1_Missense_Mutation_p.C349F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.C382F NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 382 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GAGCATACTGCAGAATGCAAA 0.507000 18 49 3.51602e-12 3.80902e-12 0.008871 1 0 FASTKD3 79072 broad.mit.edu 37 5 7867461 7867461 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:7867461C>T ENST00000264669.5 - 2 872 c.736G>A c.(736-738)Gaa>Aaa p.E246K FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 246 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TCCAATTTTTCACCTTGAAGT 0.373000 9 119 0 0 0.004482 0 0 DIAPH3 81624 broad.mit.edu 37 13 60557957 60557957 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr13:60557957C>A ENST00000400324.4 - 13 1646 c.1426G>T c.(1426-1428)Gat>Tat p.D476Y DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D406Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D430Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D476Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D465Y|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D476Y NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 476 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAGTCTGGATCCATTCCATCT 0.294000 31 68 3.03874e-20 3.34261e-20 0.003271 1 0 MOS 4342 broad.mit.edu 37 8 57025630 57025630 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:57025630G>A ENST00000311923.1 - 1 911 c.912C>T c.(910-912)ttC>ttT p.F304F NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 304 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) GCGAGTCCTCGAAGACGGCAG 0.682000 6 29 0 0 0.001168 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975151 31975151 + RNA SNP T T G rs115914286 by1000genomes TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:31975151T>G ENST00000342991.6 + 0 1274 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GGAAGGGCACTTGCACATGGC 0.607000 3 22 0 0 0.004672 0 0 CXorf40B 541578 broad.mit.edu 37 X 149101932 149101932 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:149101932C>T ENST00000370406.3 - 4 989 c.161G>A c.(160-162)cGg>cAg p.R54Q CXorf40B_ENST00000462691.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000370404.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.R54Q Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 54 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) CAGCAGCTCCCGACAGGCATC 0.587000 45 24 0 0 0.014410 0 0 KIAA0556 23247 broad.mit.edu 37 16 27720105 27720105 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:27720105C>T ENST00000261588.4 + 13 1488 c.1469C>T c.(1468-1470)tCg>tTg p.S490L KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 490 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TGGGGCAACTCGTGGTGGGTG 0.488000 7 59 0 0 0.001984 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11249656 11249656 + Nonsense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:11249656C>G ENST00000376819.3 + 1 259 c.20C>G c.(19-21)tCa>tGa p.S7* MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 7 response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) AAGCCTCTCTCAGCTGTGACC 0.557000 18 138 0 0 0.006122 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 54 0 0 0.001168 0 0 CA14 23632 broad.mit.edu 37 1 150235226 150235226 + Silent SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:150235226T>G ENST00000369111.4 + 6 1489 c.519T>G c.(517-519)gcT>gcG p.A173A NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 173 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGAATATAGCTTATGAACACA 0.363000 55 91 0 0 0.014410 0 0 FANCA 2175 broad.mit.edu 37 16 89849296 89849296 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:89849296C>T ENST00000389301.3 - 17 1627 c.1597G>A c.(1597-1599)Gat>Aat p.D533N FANCA_ENST00000568369.1_Missense_Mutation_p.D533N NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 533 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) GATGACAAATCCTCGTAGAGT 0.488000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 40 0 0 0.004482 0 0 MTR 4548 broad.mit.edu 37 1 236995364 236995364 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:236995364G>T ENST00000366577.5 + 13 1568 c.1174G>T c.(1174-1176)Gca>Tca p.A392S MTR_ENST00000535889.1_Missense_Mutation_p.A392S NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 392 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) ACTCATCATGGCAGGAAACTA 0.448000 6 48 2.0095e-06 2.12072e-06 0.001984 1 0 ZNF292 23036 broad.mit.edu 37 6 87969609 87969609 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:87969609G>C ENST00000369577.3 + 8 6305 c.6262G>C c.(6262-6264)Gaa>Caa p.E2088Q ZNF292_ENST00000339907.4_Missense_Mutation_p.E2083Q NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2088 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GCATAAAAAAGAAAAGGAGGA 0.388000 7 45 0 0 0.003080 0 0 DNAJC13 23317 broad.mit.edu 37 3 132196904 132196904 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:132196904C>T ENST00000260818.6 + 24 2877 c.2629C>T c.(2629-2631)Ctt>Ttt p.L877F NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 877 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 TTTACAAGCCCTTGCTATTGT 0.333000 22 92 0 0 0.010504 0 0 SIK3 23387 broad.mit.edu 37 11 116729228 116729228 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:116729228G>C ENST00000375300.1 - 20 2814 c.2809C>G c.(2809-2811)Cag>Gag p.Q937E SIK3_ENST00000446921.2_Missense_Mutation_p.Q877E|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Q718E|SIK3_ENST00000292055.4_Missense_Mutation_p.Q879E|SIK3_ENST00000375288.1_Missense_Mutation_p.Q214E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q819E Q9Y2K2 SIK3_HUMAN SIK family kinase 3 879 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGCGGCTGCTGATGTGCACTG 0.587000 12 107 0 0 0.001855 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407734 1407734 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:1407734G>A ENST00000381524.3 + 6 612 c.426G>A c.(424-426)ccG>ccA p.P142P CSF2RA_ENST00000361536.3_Silent_p.P142P|CSF2RA_ENST00000432318.2_Silent_p.P142P|CSF2RA_ENST00000355432.3_Silent_p.P142P|CSF2RA_ENST00000355805.2_Silent_p.P142P|CSF2RA_ENST00000417535.2_Silent_p.P142P|CSF2RA_ENST00000381500.1_Silent_p.P142P|CSF2RA_ENST00000501036.2_Silent_p.P9P|CSF2RA_ENST00000381509.3_Silent_p.P142P|CSF2RA_ENST00000381529.3_Silent_p.P142P P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 142 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CGAGGGGTCCGACGGCCCCCC 0.478000 53 68 0 0 0.014410 0 0 MTMR8 55613 broad.mit.edu 37 X 63555987 63555987 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:63555987T>A ENST00000374852.3 - 10 1190 c.1123A>T c.(1123-1125)Ata>Tta p.I375L MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 375 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CCCATGGATATCCATTCCTTC 0.338000 33 10 0 0 0.006999 0 0 FCGBP 8857 broad.mit.edu 37 19 40368715 40368715 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:40368715G>A ENST00000221347.6 - 28 12640 c.12633C>T c.(12631-12633)ggC>ggT p.G4211G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4211 VWFD 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) CGCACACTGCGCCATGATAGC 0.597000 31 348 0 0 0.008740 0 0 KCNS3 3790 broad.mit.edu 37 2 18113159 18113159 + Missense_Mutation SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:18113159T>G ENST00000403915.1 + 3 1335 c.884T>G c.(883-885)aTg>aGg p.M295R KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.M295R Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 295 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTACGGCTTATGAGGATTTTC 0.498000 30 61 0 0 0.009535 0 0 HOOK2 29911 broad.mit.edu 37 19 12878702 12878702 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:12878702G>A ENST00000264827.5 - 13 1401 c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R411W NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 411 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 AAGGAGTCCCGCTCCGCCAAC 0.677000 21 22 0 0 0.010504 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701980 8701980 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:8701980G>A ENST00000329805.4 - 1 687 c.459C>T c.(457-459)ttC>ttT p.F153F NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 153 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GTGGGTTTCTGAAGCCAGGCA 0.582000 11 93 0 0 0.008291 0 0 FAT3 120114 broad.mit.edu 37 11 92624013 92624013 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:92624013G>A ENST00000298047.6 + 27 13521 c.13504G>A c.(13504-13506)Gaa>Aaa p.E4502K FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000489716.1_3'UTR Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4502 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCCCCAACGAAACGGATTT 0.592000 TCGA Ovarian(4;0.039) 17 29 0 0 0.007413 0 0 HERC4 26091 broad.mit.edu 37 10 69699408 69699408 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:69699408G>A ENST00000395198.3 - 22 2779 c.2532C>T c.(2530-2532)agC>agT p.S844S HERC4_ENST00000373700.4_Silent_p.S836S|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.S734S NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 844 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 ACTGTTGCATGCTTCTGCAAA 0.284000 10 34 0 0 0.006214 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169064 32169064 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:32169064C>G ENST00000375023.3 - 22 4107 c.3969G>C c.(3967-3969)ctG>ctC p.L1323L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1323 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GTCCTACCCTCAGAGTCAGGG 0.642000 7 67 0 0 0.001984 0 0 SNX5 27131 broad.mit.edu 37 20 17937598 17937598 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:17937598G>C ENST00000377768.3 - 3 447 c.135C>G c.(133-135)gtC>gtG p.V45V SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Silent_p.V45V NM_152227.1 NP_689413.1 Q9Y5X3 SNX5_HUMAN sorting nexin 5 45 PX.|Phosphatidylinositol bisphosphate binding (By similarity). cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 11 CTGTAAATTTGACTTTGTCTC 0.423000 16 57 0 0 0.010504 0 0 PDGFRB 5159 broad.mit.edu 37 5 149516593 149516593 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:149516593C>T ENST00000261799.4 - 2 487 c.18G>A c.(16-18)gcG>gcA p.A6A NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 6 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GAGCTGGCATCGCACCCGGAA 0.647000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 3 21 0 0 0.004672 0 0 CUX2 23316 broad.mit.edu 37 12 111785464 111785464 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:111785464G>A ENST00000261726.6 + 22 3950 c.3796G>A c.(3796-3798)Gag>Aag p.E1266K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1266 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CTCTGAGACTGAGGACCAGAA 0.622000 11 32 0 0 0.008291 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175902 140175902 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:140175902C>T ENST00000526136.1 + 1 1353 c.1353C>T c.(1351-1353)aaC>aaT p.N451N PCDHA2_ENST00000378132.1_Silent_p.N451N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.N451N|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCGCCGGCGT 0.647000 39 44 0 0 0.006999 0 0 ADIG 149685 broad.mit.edu 37 20 37209995 37209995 + Nonsense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:37209995G>A ENST00000537425.1 + 1 158 c.87G>A c.(85-87)tgG>tgA p.W29* ADIG_ENST00000373348.3_Nonsense_Mutation_p.W34* NM_001018082.1 NP_001018092.1 Q0VDE8 ADIG_HUMAN adipogenin 34 brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation cytoplasm|integral to membrane|nucleus endometrium(1)|kidney(1) 2 Myeloproliferative disorder(115;0.00878) TGATCATCTGGCTACGCTTCT 0.517000 40 49 0 0 0.013114 0 0 ABCB5 340273 broad.mit.edu 37 7 20689665 20689665 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:20689665C>G ENST00000404938.2 + 12 1879 c.1227C>G c.(1225-1227)ctC>ctG p.L409L ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 593 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTCTGAATCTCAGAATTAAGT 0.413000 4 17 0 0 0.009096 0 0 IGSF1 3547 broad.mit.edu 37 X 130412064 130412064 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:130412064C>T ENST00000370904.1 - 19 2969 c.2059G>A c.(2059-2061)Ggc>Agc p.G687S IGSF1_ENST00000370903.3_Missense_Mutation_p.G701S|IGSF1_ENST00000370910.1_Missense_Mutation_p.G687S|IGSF1_ENST00000361420.3_Missense_Mutation_p.G696S Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 696 Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGTTCCTGGCCCCGGATTGTG 0.532000 37 18 0 0 0.007835 0 0 DMTF1 9988 broad.mit.edu 37 7 86817567 86817567 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:86817567C>T ENST00000414194.2 + 13 2355 c.563C>T c.(562-564)tCt>tTt p.S188F DMTF1_ENST00000432937.2_Missense_Mutation_p.S366F|DMTF1_ENST00000394703.5_Missense_Mutation_p.S454F|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.S454F Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 454 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) ACAGCCATCTCTTCTAGCCCC 0.423000 56 114 0 0 0.014410 0 0 NPAS4 266743 broad.mit.edu 37 11 66191403 66191403 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:66191403G>A ENST00000311034.2 + 7 1218 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 348 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTCATTCCCTGAAAACATTCT 0.577000 29 181 0 0 0.012213 0 0 MYF5 4617 broad.mit.edu 37 12 81112735 81112735 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:81112735C>A ENST00000228644.3 + 3 825 c.673C>A c.(673-675)Cag>Aag p.Q225K NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 225 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GTTGCCTCTCCAGGATCTGGC 0.488000 25 60 7.41945e-09 7.88834e-09 0.005443 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735780 55735780 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:55735780G>C ENST00000312345.2 - 1 210 c.160C>G c.(160-162)Ctt>Gtt p.L54V NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AAATTGCTAAGAAAAAAATAC 0.328000 15 81 0 0 0.004990 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601232 55601232 + Silent SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:55601232A>G ENST00000457326.2 + 1 649 c.564A>G c.(562-564)caA>caG p.Q188Q LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 188 EF-hand 3. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 TAAATGAACAACTTTACCAAA 0.483000 47 88 0 0 0.014410 0 0 FURIN 5045 broad.mit.edu 37 15 91422758 91422758 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:91422758C>G ENST00000268171.3 + 10 1417 c.1138C>G c.(1138-1140)Ctc>Gtc p.L380V NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 380 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CATCATTGCTCTCACCCTGGA 0.627000 4 31 0 0 0.000602 0 0 ZNFX1 57169 broad.mit.edu 37 20 47863847 47863847 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:47863847G>A ENST00000396105.1 - 14 5960 c.5714C>T c.(5713-5715)gCc>gTc p.A1905V ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1905V|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1905 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAGGTTGTTGGCCGTGTCAGA 0.522000 30 64 0 0 0.009535 0 0 MTMR9 66036 broad.mit.edu 37 8 11172549 11172549 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:11172549C>T ENST00000221086.3 + 7 1562 c.1089C>T c.(1087-1089)gcC>gcT p.A363A MTMR9_ENST00000526292.1_Silent_p.A278A NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 363 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) GTTTTGAGGCCCTGATTGAAA 0.483000 48 114 0 0 0.014410 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198509756 198509756 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:198509756G>A ENST00000309309.7 - 2 130 c.25C>T c.(25-27)Cac>Tac p.H9Y ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.H9Y NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 9 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 AGAAGCTGGTGGATCCCCTGA 0.458000 43 70 0 0 0.014410 0 0 SPEG 10290 broad.mit.edu 37 2 220354138 220354138 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:220354138C>T ENST00000312358.7 + 36 8530 c.8398C>T c.(8398-8400)Cct>Tct p.P2800S SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2800 Pro-rich. 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) TCCTGACTCTCCTACCTCACT 0.627000 4 15 0 0 0.001168 0 0 RNF14 9604 broad.mit.edu 37 5 141353158 141353158 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:141353158C>T ENST00000394520.2 + 3 314 c.5C>T c.(4-6)tCg>tTg p.S2L RNF14_ENST00000394515.3_Missense_Mutation_p.S2L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.S2L|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.S2L|RNF14_ENST00000394519.1_Missense_Mutation_p.S2L|RNF14_ENST00000540015.1_Missense_Mutation_p.S2L NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 2 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding p.S2L(1) cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GTCCTTATGTCGTCAGAAGAT 0.463000 8 37 0 0 0.004482 0 0 DDX23 9416 broad.mit.edu 37 12 49225034 49225034 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:49225034G>C ENST00000308025.3 - 16 2209 c.2130C>G c.(2128-2130)ctC>ctG p.L710L NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 710 Helicase C-terminal. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CCCCAGCCTTGAGGTTGGACA 0.483000 19 146 0 0 0.008871 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378934 114378934 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:114378934G>A ENST00000312719.5 - 5 1716 c.528C>T c.(526-528)atC>atT p.I176I RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I176I|RP3-399L15.3_ENST00000523087.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 176 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TCAACAACTTGATGGATGAGT 0.403000 43 247 0 0 0.011902 0 0 POLK 51426 broad.mit.edu 37 5 74879221 74879221 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:74879221C>G ENST00000241436.4 + 8 1210 c.1038C>G c.(1036-1038)atC>atG p.I346M POLK_ENST00000515295.1_Missense_Mutation_p.I346M|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Missense_Mutation_p.I346M|POLK_ENST00000352007.5_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.I256M NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 346 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TGGACTTCATCAAGGATTTAC 0.323000 DNA polymerases (catalytic subunits) 17 37 0 0 0.006122 0 0 DCTN6 10671 broad.mit.edu 37 8 30038087 30038087 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:30038087G>C ENST00000221114.3 + 6 502 c.415G>C c.(415-417)Gag>Cag p.E139Q DCTN6_ENST00000520829.1_Missense_Mutation_p.E139Q|RP11-51J9.4_ENST00000523733.1_RNA NM_006571.3 NP_006562.1 O00399 DCTN6_HUMAN dynactin 6 139 centrosome transferase activity endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) AGTCATCCCTGAGAATACGGT 0.438000 10 43 0 0 0.008291 0 0 XYLT2 64132 broad.mit.edu 37 17 48432263 48432263 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:48432263G>C ENST00000017003.2 + 4 902 c.853G>C c.(853-855)Gat>Cat p.D285H XYLT2_ENST00000507602.1_Missense_Mutation_p.D285H NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 285 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) CCAGGGCTATGATAACGTGCG 0.642000 7 86 0 0 0.001984 0 0 FLG2 388698 broad.mit.edu 37 1 152324824 152324824 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:152324824G>A ENST00000388718.5 - 3 5510 c.5438C>T c.(5437-5439)tCa>tTa p.S1813L FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1813 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGAACCCTGAGTGCCCTTC 0.537000 61 149 0 0 0.014410 0 0 RBM18 92400 broad.mit.edu 37 9 125004258 125004258 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:125004258C>G ENST00000417201.3 - 6 618 c.478G>C c.(478-480)Gag>Cag p.E160Q RBM18_ENST00000483428.1_5'UTR NM_033117.3 NP_149108.1 Q96H35 RBM18_HUMAN RNA binding motif protein 18 160 nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 GCTGGATACTCTGCATCAGGA 0.408000 13 78 0 0 0.013537 0 0 UBA6 55236 broad.mit.edu 37 4 68543386 68543386 + Silent SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:68543386T>A ENST00000322244.4 - 6 467 c.408A>T c.(406-408)acA>acT p.T136T UBA6_ENST00000420827.2_Silent_p.T136T NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 136 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 CAGAAGATGATGTGACATGAA 0.308000 28 38 0 0 0.010818 0 0 RIN3 79890 broad.mit.edu 37 14 93118912 93118912 + Silent SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:93118912T>A ENST00000216487.7 + 6 1677 c.1518T>A c.(1516-1518)tcT>tcA p.S506S RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 506 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GCCCTGCTTCTCAGGCTGGGA 0.652000 20 40 0 0 0.010504 0 0 SLC26A5 375611 broad.mit.edu 37 7 103017279 103017279 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:103017279A>G ENST00000306312.3 - 19 2278 c.2017T>C c.(2017-2019)Tat>Cat p.Y673H SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Y643H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Y641H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Y675H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Y673H|SLC26A5_ENST00000354356.4_Missense_Mutation_p.Y106H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Y641H|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Y636H NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 673 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AAGTATACATATATACCGACG 0.313000 14 58 0 0 0.004990 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894396 10894396 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:10894396G>C ENST00000283141.6 + 4 591 c.295G>C c.(295-297)Gaa>Caa p.E99Q SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 99 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TGGCCTGAAAGAAGATGAACC 0.383000 5 131 0 0 0.000602 0 0 PRDM10 56980 broad.mit.edu 37 11 129780421 129780421 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:129780421G>A ENST00000358825.5 - 20 3356 c.3125C>T c.(3124-3126)tCt>tTt p.S1042F PRDM10_ENST00000526082.1_Missense_Mutation_p.S956F|PRDM10_ENST00000360871.3_Missense_Mutation_p.S1038F|PRDM10_ENST00000528746.1_Missense_Mutation_p.S999F|PRDM10_ENST00000423662.2_Missense_Mutation_p.S943F|PRDM10_ENST00000304538.6_Missense_Mutation_p.S905F NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1029 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GTGCTGCACAGAGGAATTctg 0.607000 11 45 0 0 0.008291 0 0 ECHS1 1892 broad.mit.edu 37 10 135176399 135176399 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:135176399C>G ENST00000368547.3 - 8 1201 c.846G>C c.(844-846)aaG>aaC p.K282N NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 282 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) TGGCCTTTCTCTTTTCCACAA 0.517000 4 75 0 0 0.000602 0 0 PODXL2 50512 broad.mit.edu 37 3 127379318 127379318 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:127379318G>A ENST00000342480.6 + 3 486 c.447G>A c.(445-447)atG>atA p.M149I NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 149 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 TGCCCAAGATGAATCTGGTTG 0.512000 17 68 0 0 0.008871 0 0 RAB23 51715 broad.mit.edu 37 6 57061369 57061369 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:57061369C>T ENST00000317483.3 - 4 896 c.277G>A c.(277-279)Gat>Aat p.D93N RAB23_ENST00000468148.1_Missense_Mutation_p.D93N NM_016277.3 NP_057361.3 Q9ULC3 RAB23_HUMAN RAB23, member RAS oncogene family 93 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 8 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GATTCCCTATCTGTGGTAGAG 0.383000 6 65 0 0 0.001168 0 0 MAP2K2 5605 broad.mit.edu 37 19 4101137 4101137 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:4101137C>G ENST00000262948.5 - 6 838 c.585G>C c.(583-585)gtG>gtC p.V195V MAP2K2_ENST00000394867.4_Silent_p.V98V|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 195 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGGGCTTCACATCTGGAG 0.662000 6 13 0 0 0.001984 0 0 APBB1IP 54518 broad.mit.edu 37 10 26789781 26789781 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:26789781A>G ENST00000376236.4 + 5 649 c.194A>G c.(193-195)gAt>gGt p.D65G APBB1IP_ENST00000356785.4_Missense_Mutation_p.D65G NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 65 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CAAGATTTAGATGCTCTCATG 0.403000 14 51 0 0 0.002450 0 0 GABRA1 2554 broad.mit.edu 37 5 161322867 161322867 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:161322867C>A ENST00000428797.2 + 10 1407 c.1052C>A c.(1051-1053)cCa>cAa p.P351Q GABRA1_ENST00000437025.2_Missense_Mutation_p.P351Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P351Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.P351Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.P351Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.P351Q NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 351 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 NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGTGTGGTTCCAGAAAAGGTA 0.398000 31 35 4.74835e-14 5.16361e-14 0.010818 1 0 RDH13 112724 broad.mit.edu 37 19 55559839 55559839 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:55559839G>C ENST00000396247.3 - 6 775 c.303C>G c.(301-303)ctC>ctG p.L101L CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000415061.3_Silent_p.L172L NM_138412.3 NP_612421.1 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 (all-trans/9-cis) 172 binding|oxidoreductase activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) CCAGGGACGAGAGGTTGATGA 0.512000 5 67 0 0 0.000602 0 0 NOP58 51602 broad.mit.edu 37 2 203157551 203157551 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:203157551C>T ENST00000264279.5 + 9 1058 c.832C>T c.(832-834)Cga>Tga p.R278* NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 278 Nop. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TCTACAAAATCGAATGATGGC 0.358000 7 106 0 0 0.003080 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342038 94342038 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:94342038C>T ENST00000436063.2 - 2 1510 c.1453G>A c.(1453-1455)Gac>Aac p.D485N DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) AATGCATTGTCACATGACAGA 0.393000 23 41 0 0 0.012319 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052056 9052056 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:9052056G>T ENST00000382496.5 - 20 3439 c.2774C>A c.(2773-2775)cCc>cAc p.P925H NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 925 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCTGCCCATGGGGAACAGGAG 0.572000 10 32 0.000978159 0.00100994 0.010729 1 0 DNAJC6 9829 broad.mit.edu 37 1 65858191 65858191 + Nonsense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:65858191G>T ENST00000395325.3 + 12 1532 c.1375G>T c.(1375-1377)Gaa>Taa p.E459* DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E516*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E446* NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 459 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 ATCAGATGATGAACTTCTGAC 0.512000 11 25 1.61879e-10 1.74051e-10 0.013537 1 0 PIGA 5277 broad.mit.edu 37 X 15349714 15349714 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:15349714G>A ENST00000333590.4 - 2 423 c.339C>T c.(337-339)ctC>ctT p.L113L PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 113 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) ATATGTACCTGAGCAATGGCA 0.478000 43 10 0 0 0.013114 0 0 PKHD1 5314 broad.mit.edu 37 6 51890330 51890330 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:51890330C>T ENST00000371117.3 - 32 4553 c.4278G>A c.(4276-4278)tcG>tcA p.S1426S PKHD1_ENST00000340994.4_Silent_p.S1426S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1426 IPT/TIG 9. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TAAAAGGACCCGAGAGGTCAA 0.537000 28 110 0 0 0.007291 0 0 LIFR 3977 broad.mit.edu 37 5 38510674 38510674 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:38510674C>T ENST00000263409.4 - 7 1045 c.883G>A c.(883-885)Gaa>Aaa p.E295K LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E295K NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 295 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GCAACATTTTCCCCATCAAGA 0.363000 T PLAG1 salivary adenoma 5 79 0 0 0.000602 0 0 COL3A1 1281 broad.mit.edu 37 2 189873853 189873853 + Silent SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:189873853A>G ENST00000304636.3 + 48 3899 c.3729A>G c.(3727-3729)ggA>ggG p.G1243G COL3A1_ENST00000317840.5_Silent_p.G940G NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1243 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGTTAATGGACAAATAGAAA 0.423000 5 106 0 0 0.000602 0 0 C4BPA 722 broad.mit.edu 37 1 207286390 207286390 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:207286390C>T ENST00000367070.3 + 2 214 c.20C>T c.(19-21)cCa>cTa p.P7L NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 7 complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CCAAAAACTCCATCTGGGGCT 0.443000 16 32 0 0 0.004007 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19568091 19568091 + Splice_Site SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:19568091C>T ENST00000397821.3 - 14 1785 c.e14+1 SH3KBP1_ENST00000541422.1_Splice_Site|SH3KBP1_ENST00000379698.4_Splice_Site|SH3KBP1_ENST00000379716.1_Splice_Site NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GAGACACTTACAGATGTGAGG 0.488000 5 74 0 0 0.001168 0 0 MICALL1 85377 broad.mit.edu 37 22 38323542 38323542 + Silent SNP G G A rs138192828 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:38323542G>A ENST00000215957.6 + 9 1716 c.1590G>A c.(1588-1590)ccG>ccA p.P530P MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 530 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TTCTGGAGCCGCCAGCTGTGC 0.657000 33 53 0 0 0.010818 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105240 75105240 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:75105240C>G ENST00000309664.5 + 1 184 c.45C>G c.(43-45)ctC>ctG p.L15L LMAN1L_ENST00000379709.3_Silent_p.L15L NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 15 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCTTCTCCTCCTGCTCCTGG 0.632000 33 60 0 0 0.012213 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166083 161166083 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:161166083C>A ENST00000367996.4 - 3 1396 c.968G>T c.(967-969)gGa>gTa p.G323V ADAMTS4_ENST00000367995.3_3'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 323 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGTGGAGACTCCACACAGGTC 0.597000 12 59 3.07112e-06 3.22919e-06 0.010729 1 0 PURG 29942 broad.mit.edu 37 8 30889927 30889927 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:30889927C>T ENST00000475541.1 - 1 1304 c.372G>A c.(370-372)gaG>gaA p.E124E PURG_ENST00000339382.2_Silent_p.E124E NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 124 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GGGCATAGTGCTCGATGAAGT 0.597000 15 92 0 0 0.003163 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498885 31498885 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:31498885C>G ENST00000330498.3 + 7 709 c.690C>G c.(688-690)ttC>ttG p.F230L AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 230 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 CGGGTCTCTTCGACAAATACC 0.652000 4 85 0 0 0.000602 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497505 39497505 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:39497505C>T ENST00000442487.3 + 3 541 c.414C>T c.(412-414)ttC>ttT p.F138F APOBEC3H_ENST00000421988.2_Silent_p.F138F|APOBEC3H_ENST00000348946.4_Silent_p.F138F|APOBEC3H_ENST00000401756.1_Silent_p.F138F NM_181773.3 NP_861438.2 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 138 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) TCATGGGCTTCCCAAGTAGGA 0.627000 13 47 0 0 0.003163 0 0 RBPMS 11030 broad.mit.edu 37 8 30402106 30402106 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:30402106C>G ENST00000320203.4 + 6 1075 c.493C>G c.(493-495)Cct>Gct p.P165A RBPMS_ENST00000287771.5_Missense_Mutation_p.P165A|RBPMS_ENST00000397323.4_Missense_Mutation_p.P165A|RBPMS_ENST00000520161.1_Missense_Mutation_p.P61A|RBPMS_ENST00000519647.1_Missense_Mutation_p.P61A|RBPMS_ENST00000517860.1_Missense_Mutation_p.P165A|RBPMS_ENST00000520191.1_Missense_Mutation_p.P61A|RBPMS_ENST00000339877.4_Missense_Mutation_p.P165A|RBPMS_ENST00000538486.1_Intron NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 165 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TCTACCTCCTCCTGCTTTCAC 0.562000 8 159 0 0 0.004482 0 0 COL5A1 1289 broad.mit.edu 37 9 137623932 137623932 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:137623932G>T ENST00000371817.3 + 9 1762 c.1348G>T c.(1348-1350)Ggc>Tgc p.G450C NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 450 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGACCTCGGGGCGAGAAAGG 0.527000 67 56 7.07328e-35 7.87144e-35 0.014410 1 0 CLIP1 6249 broad.mit.edu 37 12 122794385 122794385 + Nonsense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:122794385G>T ENST00000358808.2 - 19 3639 c.3485C>A c.(3484-3486)tCa>tAa p.S1162* CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S1051*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S1162*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S748*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.S1173*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S1127* NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1173 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGCAACGCTGAAAGCTGCTG 0.507000 19 39 6.94344e-10 7.43755e-10 0.006122 1 0 CNTN6 27255 broad.mit.edu 37 3 1363508 1363508 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:1363508C>G ENST00000446702.2 + 8 1563 c.936C>G c.(934-936)ctC>ctG p.L312L CNTN6_ENST00000350110.2_Silent_p.L312L|CNTN6_ENST00000539053.1_Silent_p.L240L Q9UQ52 CNTN6_HUMAN contactin 6 312 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGGGTCAACTCATTTTTTATG 0.348000 21 25 0 0 0.003330 0 0 ATG2B 55102 broad.mit.edu 37 14 96807957 96807957 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:96807957C>T ENST00000359933.4 - 6 1719 c.826G>A c.(826-828)Gag>Aag p.E276K NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 276 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGTGCTATCTCTGGTAAATTT 0.438000 16 82 0 0 0.004990 0 0 ZNF266 10781 broad.mit.edu 37 19 9528555 9528555 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:9528555A>T ENST00000592904.1 - 3 2140 c.64T>A c.(64-66)Tct>Act p.S22T ZNF266_ENST00000361451.2_Missense_Mutation_p.S22T|ZNF266_ENST00000361151.1_Missense_Mutation_p.S22T|ZNF266_ENST00000592292.1_Missense_Mutation_p.S22T|ZNF266_ENST00000590306.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588933.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588221.1_Missense_Mutation_p.S22T Q14584 ZN266_HUMAN zinc finger protein 266 22 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 TCCAGCCAAGAGATCAGACTG 0.438000 61 111 0 0 0.014410 0 0 SCN8A 6334 broad.mit.edu 37 12 52099309 52099309 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:52099309G>A ENST00000354534.5 + 10 1421 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K SCN8A_ENST00000550891.1_Missense_Mutation_p.E415K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E415K NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 415 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CATGGCTTATGAAGAACAGAA 0.453000 4 33 0 0 0.009096 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867642 7867642 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:7867642C>G ENST00000264669.5 - 2 691 c.555G>C c.(553-555)ctG>ctC p.L185L FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 185 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCAACAGAATCAGAGCTTGCA 0.433000 10 127 0 0 0.006214 0 0 ATMIN 23300 broad.mit.edu 37 16 81077197 81077197 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:81077197G>C ENST00000566488.1 + 3 1589 c.626G>C c.(625-627)aGc>aCc p.S209T ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.S209T|ATMIN_ENST00000299575.4_Missense_Mutation_p.S365T O43313 ATMIN_HUMAN ATM interactor 365 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CTTAAGGAGAGCCTACCTCTT 0.458000 9 52 0 0 0.004482 0 0 FBXO18 84893 broad.mit.edu 37 10 5956205 5956205 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:5956205C>T ENST00000379999.5 + 9 1626 c.1522C>T c.(1522-1524)Cag>Tag p.Q508* FBXO18_ENST00000362091.4_Nonsense_Mutation_p.Q457*|FBXO18_ENST00000379994.1_Nonsense_Mutation_p.Q194*|FBXO18_ENST00000397269.3_5'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 457 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GGAACCTCTCCAGGTGGTGAA 0.448000 9 86 0 0 0.006214 0 0 LMOD1 25802 broad.mit.edu 37 1 201868676 201868676 + Missense_Mutation SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:201868676T>G ENST00000367288.4 - 2 1711 c.1465A>C c.(1465-1467)Aag>Cag p.K489Q RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 489 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTCTCTCCCTTGGCTTCCTGT 0.592000 11 16 0 0 0.001855 0 0 USP34 9736 broad.mit.edu 37 2 61431396 61431396 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:61431396T>C ENST00000398571.2 - 74 9455 c.9379A>G c.(9379-9381)Agt>Ggt p.S3127G NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3127 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CATACCTTACTGGTTTCCACC 0.428000 44 72 0 0 0.014410 0 0 ARID5B 84159 broad.mit.edu 37 10 63816914 63816914 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:63816914G>C ENST00000279873.7 + 6 1295 c.885G>C c.(883-885)aaG>aaC p.K295N ARID5B_ENST00000309334.5_Missense_Mutation_p.K52N NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 295 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CCAAGCCGAAGAATAACCATA 0.458000 18 22 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179635006 179635006 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:179635006C>G ENST00000589042.1 - 36 8646 c.8422G>C c.(8422-8424)Gaa>Caa p.E2808Q TTN_ENST00000359218.5_Missense_Mutation_p.E2762Q|TTN_ENST00000342175.6_Missense_Mutation_p.E2762Q|TTN_ENST00000360870.5_Missense_Mutation_p.E2808Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2762Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E2808Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2808Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2546 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGCATTTTCCAAGGCTGTC 0.408000 16 88 0 0 0.004007 0 0 NPTX2 4885 broad.mit.edu 37 7 98256519 98256519 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:98256519C>T ENST00000265634.3 + 4 1096 c.931C>T c.(931-933)Cac>Tac p.H311Y NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 311 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CAAGTGGCACCACATCTGTGT 0.637000 19 30 0 0 0.010504 0 0 TUSC1 286319 broad.mit.edu 37 9 25677789 25677789 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:25677789G>C ENST00000358022.3 - 1 1067 c.531C>G c.(529-531)ctC>ctG p.L177L NM_001004125.2 NP_001004125.1 Q2TAM9 TUSC1_HUMAN tumor suppressor candidate 1 177 kidney(1) 1 all_hematologic(1;0.197) all_neural(3;5.42e-18)|Glioma(3;5.54e-17) GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11) CCCGCTGCTCGAGGTGCAGCT 0.716000 3 0 0 0 0.004672 0 0 ACADVL 37 broad.mit.edu 37 17 7127131 7127131 + Splice_Site SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:7127131G>A ENST00000356839.5 + 13 1448 c.e13-1 ACADVL_ENST00000543245.2_Splice_Site|ACADVL_ENST00000350303.5_Splice_Site NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 TTTGTCCCTAGGAGGCAGCCT 0.557000 24 48 0 0 0.004656 0 0 GABPA 2551 broad.mit.edu 37 21 27136626 27136626 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr21:27136626C>T ENST00000354828.3 + 8 1435 c.908C>T c.(907-909)tCa>tTa p.S303L GABPA_ENST00000400075.3_Missense_Mutation_p.S303L NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 303 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.S303L(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 CCGAGGATTTCAGGAGAAGAT 0.338000 16 24 0 0 0.007413 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 43 0 0 0.004656 0 0 SV2C 22987 broad.mit.edu 37 5 75490760 75490760 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:75490760C>T ENST00000502798.2 + 3 1039 c.597C>T c.(595-597)ctC>ctT p.L199L SV2C_ENST00000322285.7_Silent_p.L199L NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 199 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TAGTGTACCTCGGGATGATGG 0.468000 13 125 0 0 0.003163 0 0 MFSD8 256471 broad.mit.edu 37 4 128878725 128878725 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:128878725C>G ENST00000296468.3 - 3 212 c.85G>C c.(85-87)Gaa>Caa p.E29Q MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 29 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TAATGCTCTTCAGTCTCTAAA 0.299000 15 92 0 0 0.003163 0 0 GNAT2 2780 broad.mit.edu 37 1 110151357 110151357 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:110151357C>T ENST00000351050.3 - 4 543 c.357G>A c.(355-357)atG>atA p.M119I NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 119 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) GCTCAGGAGGCATGGTTCCCT 0.517000 21 49 0 0 0.012319 0 0 TRAV10 28676 broad.mit.edu 37 14 22294136 22294136 + RNA SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:22294136C>T ENST00000390432.2 + 0 276 CAAAGTCGAACGGAAGATATA 0.488000 23 65 0 0 0.002780 0 0 TVP23B 51030 broad.mit.edu 37 17 18694255 18694255 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:18694255A>G ENST00000307767.8 + 3 441 c.142A>G c.(142-144)Atc>Gtc p.I48V TVP23B_ENST00000574226.1_Missense_Mutation_p.I48V|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR NM_016078.4 NP_057162.4 trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) AGTCAGTGCAATCATCGTCTA 0.393000 110 136 0 0 0.014410 0 0 TRIAP1 51499 broad.mit.edu 37 12 120882720 120882720 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:120882720C>T ENST00000546954.1 - 2 225 c.186G>A c.(184-186)ctG>ctA p.L62L AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR NM_016399.2 NP_057483.1 O43715 TRIA1_HUMAN TP53 regulated inhibitor of apoptosis 1 62 anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest mitochondrion|perinuclear region of cytoplasm caspase inhibitor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCATGAACTCCAGTCCTTCAA 0.403000 32 156 0 0 0.003271 0 0 SPDEF 25803 broad.mit.edu 37 6 34512160 34512160 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:34512160G>A ENST00000374037.3 - 2 487 c.73C>T c.(73-75)Cgg>Tgg p.R25W SPDEF_ENST00000544425.1_Missense_Mutation_p.R25W NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 25 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 AAGCCTGTCCGCGACACCGTG 0.716000 5 36 0 0 0.001168 0 0 PLCL1 5334 broad.mit.edu 37 2 198949886 198949886 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:198949886G>C ENST00000428675.1 + 2 2043 c.1645G>C c.(1645-1647)Gat>Cat p.D549H PLCL1_ENST00000437704.2_Missense_Mutation_p.D451H NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 549 Interaction with GABA A beta subunit (By similarity). intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TTCTGATCCAGATGTGTTAGA 0.413000 20 41 0 0 0.008871 0 0 BTNL9 153579 broad.mit.edu 37 5 180472573 180472573 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:180472573C>T ENST00000327705.9 + 2 315 c.84C>T c.(82-84)ctC>ctT p.L28L BTNL9_ENST00000376842.3_Silent_p.L28L|BTNL9_ENST00000376841.2_Silent_p.L28L|BTNL9_ENST00000515271.1_Intron NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 28 integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTCCTCCTCCTTCAGCCTG 0.607000 5 39 0 0 0.000602 0 0 COL1A2 1278 broad.mit.edu 37 7 94043559 94043559 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:94043559C>A ENST00000297268.6 + 29 2162 c.1691C>A c.(1690-1692)gCt>gAt p.A564D NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 564 A -> T (in dbSNP:rs41317153). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCAGGTCCCGCTGGTGAAGTT 0.433000 HNSCC(75;0.22) 7 33 3.09899e-07 3.28263e-07 0.004482 1 0 ANK3 288 broad.mit.edu 37 10 62029966 62029966 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:62029966T>C ENST00000280772.1 - 5 627 c.436A>G c.(436-438)Atg>Gtg p.M146V ANK3_ENST00000503366.1_Missense_Mutation_p.M129V|ANK3_ENST00000373827.2_Missense_Mutation_p.M140V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 146 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.M146V(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGGCTGCCATATACAATGGC 0.398000 19 33 0 0 0.007413 0 0 KIF14 9928 broad.mit.edu 37 1 200549426 200549426 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:200549426C>G ENST00000367350.4 - 21 3859 c.3421G>C c.(3421-3423)Gaa>Caa p.E1141Q NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1141 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TCAAACTTTTCCAGACTCCAG 0.279000 6 16 0 0 0.001984 0 0 REV3L 5980 broad.mit.edu 37 6 111697577 111697577 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:111697577C>T ENST00000435970.1 - 15 2563 c.1747G>A c.(1747-1749)Gat>Aat p.D583N REV3L_ENST00000358835.3_Missense_Mutation_p.D661N|REV3L_ENST00000368802.3_Missense_Mutation_p.D661N|REV3L_ENST00000368805.1_Missense_Mutation_p.D661N O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 661 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTTCATAATCAAAAATACTA 0.323000 DNA polymerases (catalytic subunits) 15 38 0 0 0.003163 0 0 KIAA1429 25962 broad.mit.edu 37 8 95504890 95504890 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:95504890T>C ENST00000297591.5 - 21 4873 c.4798A>G c.(4798-4800)Ata>Gta p.I1600V KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1600 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTTGACGTTATAAAGGTCTCA 0.383000 10 74 0 0 0.008291 0 0 CATSPERD 257062 broad.mit.edu 37 19 5754220 5754220 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:5754220G>A ENST00000381624.3 + 13 1303 c.1242G>A c.(1240-1242)tcG>tcA p.S414S CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.S72S NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 414 integral to membrane TGACTGCTTCGTTGATACCCC 0.453000 41 88 0 0 0.011902 0 0 MASTL 84930 broad.mit.edu 37 10 27459563 27459563 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:27459563G>A ENST00000375946.4 + 8 2278 c.1675G>A c.(1675-1677)Gat>Aat p.D559N MASTL_ENST00000342386.6_Missense_Mutation_p.D559N|MASTL_ENST00000375940.4_Missense_Mutation_p.D559N|MASTL_ENST00000477034.1_3'UTR NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 559 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCTGATGATGATAGAGCTTC 0.333000 14 51 0 0 0.001855 0 0 DCHS2 54798 broad.mit.edu 37 4 155157796 155157796 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:155157796A>T ENST00000357232.3 - 25 6642 c.6643T>A c.(6643-6645)Tat>Aat p.Y2215N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2215 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGGTGTGATAGCTCAGGCTG 0.488000 4 69 0 0 0.000602 0 0 CSPP1 79848 broad.mit.edu 37 8 68028195 68028195 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:68028195A>G ENST00000262210.5 + 11 1350 c.1319A>G c.(1318-1320)gAg>gGg p.E440G CSPP1_ENST00000412460.1_Missense_Mutation_p.E146G NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 475 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CACTTTGAAGAGATGATACCA 0.408000 37 81 0 0 0.006999 0 0 G3BP2 9908 broad.mit.edu 37 4 76572243 76572243 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:76572243C>G ENST00000359707.4 - 10 1812 c.1027G>C c.(1027-1029)Gat>Cat p.D343H G3BP2_ENST00000357854.3_Missense_Mutation_p.D310H|G3BP2_ENST00000395719.3_Missense_Mutation_p.D343H NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 343 RRM. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCATTTTCATCAATATCATGT 0.338000 8 41 0 0 0.003080 0 0 CMYA5 202333 broad.mit.edu 37 5 79030703 79030703 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:79030703A>G ENST00000446378.2 + 2 6146 c.6115A>G c.(6115-6117)Aaa>Gaa p.K2039E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2039 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) TAGCCAGGAAAAAATTAAACT 0.428000 23 22 0 0 0.002780 0 0 LCMT2 9836 broad.mit.edu 37 15 43622164 43622164 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:43622164G>A ENST00000305641.5 - 1 639 c.524C>T c.(523-525)gCg>gTg p.A175V LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 175 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;8.1e-07) L-Leucine(DB00149) GTCGAGCCCCGCGGCGCCCAG 0.716000 23 28 0 0 0.002780 0 0 WNK4 65266 broad.mit.edu 37 17 40947834 40947834 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:40947834G>C ENST00000246914.5 + 16 3235 c.3214G>C c.(3214-3216)Gag>Cag p.E1072Q NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1072 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGCTCTGGCTGAGAGCGACCG 0.607000 3 40 0 0 0.009096 0 0 ABCG8 64241 broad.mit.edu 37 2 44079964 44079964 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:44079964C>T ENST00000272286.2 + 6 1011 c.921C>T c.(919-921)atC>atT p.I307I NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 307 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCACAGCCATCGGCTACCCCT 0.592000 11 92 0 0 0.002450 0 0 ACSS1 84532 broad.mit.edu 37 20 25038407 25038407 + Missense_Mutation SNP G G A rs141662914 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:25038407G>A ENST00000323482.4 - 1 411 c.332C>T c.(331-333)tCt>tTt p.S111F ACSS1_ENST00000432802.2_Missense_Mutation_p.S111F|ACSS1_ENST00000376726.3_Missense_Mutation_p.S111F NM_001252675.1|NM_032501.3 NP_001239604.1|NP_115890.2 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 111 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCACTCACCAGAGACATTTAA 0.667000 7 47 0 0 0.003080 0 0 PLIN4 729359 broad.mit.edu 37 19 4511815 4511815 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:4511815C>T ENST00000301286.3 - 3 2114 c.2115G>A c.(2113-2115)gtG>gtA p.V705V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 705 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGGTGGTGTCCACACTGGTCT 0.607000 14 426 0 0 0.012213 0 0 ABCG8 64241 broad.mit.edu 37 2 44102445 44102445 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:44102445C>T ENST00000272286.2 + 11 1739 c.1649C>T c.(1648-1650)gCg>gTg p.A550V NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 550 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGCCGCCGCGGCCCTGCTC 0.617000 18 49 0 0 0.008871 0 0 MYT1 4661 broad.mit.edu 37 20 62871203 62871203 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:62871203G>T ENST00000536311.1 + 22 3629 c.3265G>T c.(3265-3267)Ggc>Tgc p.G1089C MYT1_ENST00000328439.1_Missense_Mutation_p.G1062C Q01538 MYT1_HUMAN myelin transcription factor 1 1062 DA -> VP (in Ref. 5; AAA59897). cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAGCTGTCCGGCCTGAGCCA 0.592000 19 119 7.41877e-09 7.88834e-09 0.012319 1 0 TRIM51 84767 broad.mit.edu 37 11 55653074 55653074 + Missense_Mutation SNP A A C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:55653074A>C ENST00000449290.2 + 2 262 c.170A>C c.(169-171)aAg>aCg p.K57T NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 57 intracellular zinc ion binding GAATGCAAGAAGACAACGCGG 0.512000 4 14 0 0 0.009096 0 0 MYO18A 399687 broad.mit.edu 37 17 27442707 27442707 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:27442707C>T ENST00000527372.1 - 12 2382 c.2202G>A c.(2200-2202)gaG>gaA p.E734E MYO18A_ENST00000533112.1_Silent_p.E734E|MYO18A_ENST00000531253.1_Silent_p.E734E|MYO18A_ENST00000354329.4_Silent_p.E734E NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 734 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity p.E734D(1) NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGCCACTCTCCTCGGGGCCCT 0.642000 7 6 0 0 0.001984 0 0 OR4B1 119765 broad.mit.edu 37 11 48238839 48238839 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:48238839G>A ENST00000309562.2 + 1 496 c.478G>A c.(478-480)Gtt>Att p.V160I NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TCAGATTCTCGTTATCATCCA 0.468000 38 77 0 0 0.006230 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431659 117431659 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:117431659T>A ENST00000160373.3 - 4 1682 c.1591A>T c.(1591-1593)Act>Tct p.T531S NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 531 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACACCATGAGTCTTTAAACTG 0.547000 42 79 0 0 0.006999 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033738 26033738 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:26033738G>C ENST00000259791.2 - 1 58 c.59C>G c.(58-60)tCt>tGt p.S20C NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 20 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 ACCTGCACGAGAAGACCGAGT 0.572000 5 106 0 0 0.000602 0 0 RFC4 5984 broad.mit.edu 37 3 186507820 186507820 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:186507820C>G ENST00000392481.2 - 11 1311 c.1030G>C c.(1030-1032)Gaa>Caa p.E344Q RFC4_ENST00000296273.2_Missense_Mutation_p.E344Q|RFC4_ENST00000433496.1_Missense_Mutation_p.E317Q NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 344 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TGCAAATGTTCATCAGCACCA 0.378000 9 79 0 0 0.013537 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418066 105418066 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:105418066C>A ENST00000333244.5 - 7 3841 c.3722G>T c.(3721-3723)gGc>gTc p.G1241V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1241 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTTTGAAGCCGGCTCCCTC 0.637000 78 36 3.66258e-25 4.06007e-25 0.014410 1 0 ITCH 83737 broad.mit.edu 37 20 33045206 33045206 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:33045206G>A ENST00000374864.4 + 13 1435 c.1222G>A c.(1222-1224)Gac>Aac p.D408N ITCH_ENST00000535650.1_Missense_Mutation_p.D298N|ITCH_ENST00000262650.6_Missense_Mutation_p.D449N|ITCH_ENST00000483727.1_3'UTR NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 449 Required for interaction with FYN. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GAAGAGAACAGACAGCAATGG 0.403000 4 20 0 0 0.009096 0 0 FAM120A 23196 broad.mit.edu 37 9 96320925 96320925 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:96320925C>T ENST00000277165.6 + 15 2925 c.2731C>T c.(2731-2733)Cgt>Tgt p.R911C FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000333936.5_Missense_Mutation_p.R939C NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 911 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCGTGCCTTCCGTGTGGCGGC 0.612000 18 96 0 0 0.008871 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529865 140529865 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:140529865G>C ENST00000231136.1 + 1 27 c.27G>C c.(25-27)aaG>aaC p.K9N PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 9 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACAGAACAAGAAAAGGCAAG 0.433000 15 57 0 0 0.004007 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407099 38407099 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:38407099A>G ENST00000322350.5 + 8 1344 c.998A>G c.(997-999)aAg>aGg p.K333R EGFLAM_ENST00000354891.3_Missense_Mutation_p.K333R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.K99R|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 333 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGAAAGGGGAAGAATGGTGTG 0.532000 29 106 0 0 0.008361 0 0 C1orf56 54964 broad.mit.edu 37 1 151021004 151021004 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:151021004C>A ENST00000368926.5 + 1 789 c.681C>A c.(679-681)caC>caA p.H227Q NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 227 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAAGCTGCACGGCCTTTCCG 0.652000 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 83 4.16121e-05 4.35936e-05 0.002780 1 0 OR2M2 391194 broad.mit.edu 37 1 248343777 248343777 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:248343777T>C ENST00000359682.2 + 1 490 c.490T>C c.(490-492)Ttt>Ctt p.F164L NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGTAGCCACATTTTCCTTCTC 0.418000 115 182 0 0 0.014410 0 0 ZNF274 10782 broad.mit.edu 37 19 58697098 58697098 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:58697098A>T ENST00000326804.4 + 3 512 c.53A>T c.(52-54)gAt>gTt p.D18V ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D18V|ZNF274_ENST00000424679.2_Intron NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 18 KRAB 1. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ACCTTTGAAGATGTAACACTG 0.517000 42 65 0 0 0.014410 0 0 EVC 2121 broad.mit.edu 37 4 5811288 5811288 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:5811288G>A ENST00000382674.2 + 19 2916 c.2732G>A c.(2731-2733)cGa>cAa p.R911Q EVC_ENST00000264956.6_Missense_Mutation_p.R911Q P57679 EVC_HUMAN Ellis van Creveld syndrome 911 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) GCCTTGGCCCGAGTGCCCCTT 0.552000 6 49 0 0 0.003080 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604753 108604753 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:108604753G>A ENST00000264047.2 + 2 418 c.142G>A c.(142-144)Gat>Aat p.D48N SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 48 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D48Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGTGGCCGAGATATTGGTTT 0.527000 4 66 0 0 0.009096 0 0 TSKS 60385 broad.mit.edu 37 19 50266447 50266447 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:50266447C>T ENST00000246801.3 - 1 140 c.58G>A c.(58-60)Gac>Aac p.D20N NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 20 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTGGGGGTGTCCCCGGCCTCA 0.657000 16 74 0 0 0.004007 0 0 SAT1 6303 broad.mit.edu 37 X 23803928 23803928 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:23803928C>A ENST00000379270.4 + 6 650 c.471C>A c.(469-471)ttC>ttA p.F157L SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.F129L NM_002970.2 NP_002961.1 P21673 SAT1_HUMAN spermidine/spermine N1-acetyltransferase 1 157 N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(3)|lung(3) 10 Spermine(DB00127) GGAGACTGTTCAAGATCGACA 0.423000 17 15 1.40151e-16 1.52989e-16 0.010504 1 0 SATB1 6304 broad.mit.edu 37 3 18390856 18390856 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:18390856G>C ENST00000338745.6 - 11 3832 c.2098C>G c.(2098-2100)Ctc>Gtc p.L700V SATB1_ENST00000417717.2_Missense_Mutation_p.L732V|SATB1_ENST00000454909.2_Missense_Mutation_p.L700V|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 700 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGGTGCTTGAGATAGTACCGC 0.507000 7 134 0 0 0.001984 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71606110 71606110 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:71606110G>A ENST00000265382.3 + 15 1862 c.1557G>A c.(1555-1557)ttG>ttA p.519_519insL PIP5K1B_ENST00000541509.1_Intron NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CCATCTACTTGACCGCTGAGC 0.448000 9 95 0 0 0.004482 0 0 MYO5A 4644 broad.mit.edu 37 15 52609388 52609388 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:52609388G>C ENST00000399231.3 - 39 5434 c.5191C>G c.(5191-5193)Cgt>Ggt p.R1731G MYO5A_ENST00000553916.1_Missense_Mutation_p.R1729G|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1756G|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1704G|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1728G NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1731 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TTCTTGTCACGCAGCCATTCT 0.368000 7 50 0 0 0.003080 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545520 234545520 + Missense_Mutation SNP G G C rs45458396 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:234545520G>C ENST00000344644.5 + 1 421 c.352G>C c.(352-354)Gac>Cac p.D118H UGT1A10_ENST00000373445.1_Missense_Mutation_p.D118H|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGTTTTCTTGACTTATTTTT 0.368000 13 106 0 0 0.001855 0 0 IFNA8 3445 broad.mit.edu 37 9 21409512 21409512 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:21409512G>C ENST00000380205.1 + 1 367 c.337G>C c.(337-339)Gac>Cac p.D113H NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 113 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.D113H(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) CATCGAACTTGACCAGCAGCT 0.502000 26 45 0 0 0.004656 0 0 PRICKLE4 29964 broad.mit.edu 37 6 41753185 41753185 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:41753185G>C ENST00000359201.5 + 5 1078 c.489G>C c.(487-489)ctG>ctC p.L163L PRICKLE4_ENST00000394260.1_Silent_p.L123L|PRICKLE4_ENST00000458694.1_Silent_p.L163L|PRICKLE4_ENST00000394259.1_Silent_p.L123L|PRICKLE4_ENST00000394263.1_Silent_p.L163L Q2TBC4 PRIC4_HUMAN prickle homolog 4 (Drosophila) 123 LIM zinc-binding 2. nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 13 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCAGGCCCTGATAAACCTCA 0.617000 5 58 0 0 0.001984 0 0 ODF2L 57489 broad.mit.edu 37 1 86852635 86852635 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:86852635C>G ENST00000359242.3 - 2 357 c.76G>C c.(76-78)Gat>Cat p.D26H ODF2L_ENST00000370567.1_Missense_Mutation_p.D26H|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000486215.1_Missense_Mutation_p.D26H|ODF2L_ENST00000294678.2_Missense_Mutation_p.D26H|ODF2L_ENST00000370566.3_Missense_Mutation_p.D26H|ODF2L_ENST00000478286.2_Missense_Mutation_p.D26H|ODF2L_ENST00000317336.7_Missense_Mutation_p.D26H NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 26 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CGTGGTAAATCTTCTTTCTCT 0.358000 7 68 0 0 0.003080 0 0 ITGA2 3673 broad.mit.edu 37 5 52371079 52371079 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:52371079A>T ENST00000296585.5 + 23 2913 c.2770A>T c.(2770-2772)Aat>Tat p.N924Y NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 924 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CAAGGCTGATAATTTGGTCAA 0.368000 9 27 0 0 0.006214 0 0 KDM6A 7403 broad.mit.edu 37 X 44870205 44870205 + Splice_Site SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:44870205G>A ENST00000377967.4 + 5 425 c.e5-1 KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site 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(10)|p.0?(6)|p.?(1) 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 TTCCTTTACAGAATGCTGCCT 0.299000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 5 6 0 0 0.001168 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869589 22869589 + Silent SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:22869589T>C ENST00000302097.3 - 2 618 c.366A>G c.(364-366)gaA>gaG p.E122E NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TATAACCAGGTTCAGATGAAG 0.483000 35 51 0 0 0.003755 0 0 UBXN4 23190 broad.mit.edu 37 2 136528186 136528186 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:136528186A>G ENST00000272638.9 + 8 1014 c.703A>G c.(703-705)Atg>Gtg p.M235V UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 235 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TGGAAAAGAAATGTTGGATTA 0.328000 8 13 0 0 0.004482 0 0 MYO1F 4542 broad.mit.edu 37 19 8618294 8618294 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:8618294C>G ENST00000338257.8 - 5 621 c.354G>C c.(352-354)gtG>gtC p.V118V NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 118 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 ATTTGGCTGCCACTGTCTTCC 0.517000 6 87 0 0 0.003080 0 0 FAM120A 23196 broad.mit.edu 37 9 96291798 96291798 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:96291798G>C ENST00000277165.6 + 9 1864 c.1670G>C c.(1669-1671)aGa>aCa p.R557T FAM120A_ENST00000340893.4_Missense_Mutation_p.R557T|FAM120A_ENST00000375389.3_Missense_Mutation_p.R557T|FAM120A_ENST00000333936.5_Missense_Mutation_p.R585T|FAM120A_ENST00000475933.1_3'UTR NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 557 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GAGGTGCTGAGAGTGGCCGAG 0.592000 15 65 0 0 0.004990 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28215883 28215883 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:28215883C>G ENST00000377294.2 - 3 859 c.616G>C c.(616-618)Gat>Cat p.D206H ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.D51H NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 206 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 ACCATTGCATCTTCTCTGCAG 0.572000 9 18 0 0 0.006214 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143656 91143656 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:91143656G>A ENST00000371809.3 + 2 666 c.586G>A c.(586-588)Ggg>Agg p.G196R LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 196 binding endometrium(2)|large_intestine(3)|lung(8) 13 CACAGCATCAGGGAGGAATAA 0.453000 43 211 0 0 0.009718 0 0 RANBP3L 202151 broad.mit.edu 37 5 36251470 36251470 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:36251470G>A ENST00000296604.3 - 13 1784 c.1299C>T c.(1297-1299)tgC>tgT p.C433C RANBP3L_ENST00000502994.1_Silent_p.C458C NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 433 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CACAGCTTTCGCAGTTCAATT 0.373000 19 37 0 0 0.010504 0 0 ANO5 203859 broad.mit.edu 37 11 22248857 22248857 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:22248857G>C ENST00000324559.8 + 7 690 c.373G>C c.(373-375)Gat>Cat p.D125H NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 125 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGACTCGGAAGATGGAAGAAC 0.348000 38 97 0 0 0.011902 0 0 LDOC1 23641 broad.mit.edu 37 X 140270912 140270912 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:140270912C>T ENST00000370526.2 - 1 398 c.295G>A c.(295-297)Gaa>Aaa p.E99K LDOC1_ENST00000460721.1_Intron NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 99 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) TCCTCGGCTTCCCCGGTGAGG 0.557000 38 24 0 0 0.011902 0 0 CYP2R1 120227 broad.mit.edu 37 11 14907463 14907463 + Splice_Site SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:14907463T>A ENST00000334636.5 - 2 272 c.225_splice c.e2-1 p.I76_splice CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_5'UTR NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 76 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) AAACTGAAGATCTTTGAGAAG 0.373000 14 33 0 0 0.006122 0 0 SMC3 9126 broad.mit.edu 37 10 112356208 112356208 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:112356208G>A ENST00000361804.4 + 19 2142 c.2016G>A c.(2014-2016)agG>agA p.R672R NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 672 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATGACACAAGGAAGTCTCGAC 0.373000 28 53 0 0 0.010818 0 0 KDM4A 9682 broad.mit.edu 37 1 44137205 44137205 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:44137205G>A ENST00000372396.3 + 11 1527 c.1393G>A c.(1393-1395)Gaa>Aaa p.E465K NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 465 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 AGTCAAATTTGAAGAGCTTAA 0.458000 13 110 0 0 0.013537 0 0 FAP 2191 broad.mit.edu 37 2 163055300 163055300 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:163055300C>T ENST00000188790.4 - 16 1576 c.1369G>A c.(1369-1371)Gac>Aac p.D457N FAP_ENST00000443424.1_Missense_Mutation_p.D432N NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 457 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TTGGCGTAGTCGCTGAAACTT 0.468000 20 41 0 0 0.010504 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923106 43923106 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:43923106C>T ENST00000329196.5 + 1 851 c.834C>T c.(832-834)gtC>gtT p.V278V MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 278 integral to membrane aspartic-type endopeptidase activity ACCACTTTGTCTATGTCACCA 0.592000 6 136 0 0 0.003080 0 0 SLC35F2 54733 broad.mit.edu 37 11 107676147 107676147 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:107676147C>T ENST00000525071.1 - 8 1257 c.669G>A c.(667-669)ctG>ctA p.L223L SLC35F2_ENST00000429869.1_Silent_p.L223L|SLC35F2_ENST00000525815.1_Silent_p.L223L|SLC35F2_ENST00000375682.4_Silent_p.L176L|SLC35F2_ENST00000265836.7_Silent_p.L75L Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 223 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CCTGTCTGCTCAGCTTCTTCA 0.408000 5 46 0 0 0.000602 0 0 MAP4 4134 broad.mit.edu 37 3 47957727 47957727 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:47957727G>A ENST00000426837.2 - 8 1728 c.1641C>T c.(1639-1641)ctC>ctT p.L547L MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L530L|MAP4_ENST00000395734.3_Silent_p.L530L P27816 MAP4_HUMAN microtubule-associated protein 4 530 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CGTTCTTGATGAGAACTACTT 0.502000 36 33 0 0 0.003271 0 0 HKDC1 80201 broad.mit.edu 37 10 71000451 71000451 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:71000451G>A ENST00000354624.5 + 6 768 c.635G>A c.(634-636)gGg>gAg p.G212E HKDC1_ENST00000395086.2_Missense_Mutation_p.G212E NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 212 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GACACCGTGGGGACCATGATG 0.562000 29 41 0 0 0.013726 0 0 CFH 3075 broad.mit.edu 37 1 196658599 196658599 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:196658599G>A ENST00000367429.4 + 8 1254 c.1014G>A c.(1012-1014)gaG>gaA p.E338E CFH_ENST00000439155.2_Silent_p.E338E|CFH_ENST00000359637.2_Silent_p.E274E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 338 Sushi 6. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TATATCATGAGAATATGCGTA 0.323000 12 62 0 0 0.013537 0 0 SNRK 54861 broad.mit.edu 37 3 43344765 43344765 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:43344765C>T ENST00000296088.7 + 3 374 c.70C>T c.(70-72)Cga>Tga p.R24* SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R24*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Nonsense_Mutation_p.R24* NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 24 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) AACCTTGGGTCGAGGCCATTT 0.423000 22 27 0 0 0.002780 0 0 CCDC125 202243 broad.mit.edu 37 5 68616157 68616157 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:68616157C>G ENST00000396496.2 - 2 318 c.211G>C c.(211-213)Gaa>Caa p.E71Q CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.E71Q|CCDC125_ENST00000396499.1_Missense_Mutation_p.E71Q|CCDC125_ENST00000460090.1_5'UTR Q86Z20 CC125_HUMAN coiled-coil domain containing 125 71 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) AAACTCGCTTCATTTCTTTCT 0.388000 54 56 0 0 0.014410 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728925 15728925 + RNA SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:15728925G>C ENST00000441682.2 + 0 377 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GTGCCACCCTGACATCGTCCG 0.577000 17 98 0 0 0.006122 0 0 INTS5 80789 broad.mit.edu 37 11 62416825 62416825 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:62416825G>A ENST00000330574.2 - 2 779 c.727C>T c.(727-729)Ctc>Ttc p.L243F NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 243 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCACAGGAGAGAACCCGGGAA 0.542000 21 50 0 0 0.014323 0 0 NEFM 4741 broad.mit.edu 37 8 24771655 24771655 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:24771655G>C ENST00000221166.5 + 1 1131 c.349G>C c.(349-351)Gag>Cag p.E117Q GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E117Q|NEFM_ENST00000437366.2_Missense_Mutation_p.E117Q|NEFM_ENST00000521540.1_3'UTR P07197 NFM_HUMAN neurofilament, medium polypeptide 117 Coil 1A.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGGCTACATAGAGAAGGTGCA 0.647000 3 13 0 0 0.004672 0 0 RBM28 55131 broad.mit.edu 37 7 127964661 127964661 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:127964661C>G ENST00000223073.1 - 12 1404 c.1290G>C c.(1288-1290)aaG>aaC p.K430N RBM28_ENST00000415472.2_Missense_Mutation_p.K289N NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 430 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 GCTTCTTCACCTTCGTCGTCT 0.557000 26 207 0 0 0.005443 0 0 PTPN13 5783 broad.mit.edu 37 4 87671658 87671658 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:87671658G>A ENST00000436978.1 + 18 3166 c.2686G>A c.(2686-2688)Gag>Aag p.E896K PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Missense_Mutation_p.E896K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E896K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E896K NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 896 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCTCCAAGCAGAGTCTGTTAG 0.438000 9 176 0 0 0.006214 0 0 ABLIM3 22885 broad.mit.edu 37 5 148619423 148619423 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:148619423C>T ENST00000506113.1 + 12 1658 c.1176C>T c.(1174-1176)tcC>tcT p.S392S RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.S330S|ABLIM3_ENST00000504238.1_Silent_p.S330S|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Silent_p.S330S|ABLIM3_ENST00000309868.7_Silent_p.S392S|ABLIM3_ENST00000508983.1_Silent_p.S392S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 392 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTTCTCCCGCTCACCTC 0.627000 35 35 0 0 0.006230 0 0 BIN3 55909 broad.mit.edu 37 8 22487967 22487967 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:22487967G>T ENST00000276416.6 - 5 353 c.285C>A c.(283-285)ttC>ttA p.F95L BIN3_ENST00000519513.1_Missense_Mutation_p.F41L|BIN3_ENST00000399977.4_Missense_Mutation_p.F47L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000520292.1_Missense_Mutation_p.F95L NM_018688.4 NP_061158.1 Q9NQY0 BIN3_HUMAN bridging integrator 3 95 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TTTCCTGATTGAAGGCATCCA 0.592000 36 186 3.61848e-18 3.96508e-18 0.007835 1 0 FHDC1 85462 broad.mit.edu 37 4 153897181 153897181 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:153897181G>A ENST00000511601.1 + 12 2926 c.2738G>A c.(2737-2739)aGa>aAa p.R913K FHDC1_ENST00000260008.3_Missense_Mutation_p.R913K Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 913 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) AAGTCCAGCAGAGGCGCCGGC 0.672000 5 30 0 0 0.001168 0 0 RPS8 6202 broad.mit.edu 37 1 45243773 45243773 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:45243773G>A ENST00000396651.3 + 5 649 c.489G>A c.(487-489)gaG>gaA p.E163E RPS8_ENST00000372209.3_Silent_p.E143E|RPS8_ENST00000485390.1_3'UTR P62241 RS8_HUMAN ribosomal protein S8 163 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 10 Acute lymphoblastic leukemia(166;0.155) GTCTCCTGGAGGAGCAGTTCC 0.448000 3 12 0 0 0.004672 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138774437 138774437 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:138774437A>T ENST00000242351.5 - 2 693 c.377T>A c.(376-378)cTc>cAc p.L126H ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L126H|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L126H NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 126 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CAGTCCAGAGAGTTCGTGATT 0.408000 26 11 0 0 0.003330 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768638 140768638 + Nonsense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:140768638C>G ENST00000519479.1 + 1 1187 c.1187C>G c.(1186-1188)tCa>tGa p.S396* PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAACTTCTTCAAGAAACACG 0.418000 6 77 0 0 0.001168 0 0 RB1CC1 9821 broad.mit.edu 37 8 53569790 53569790 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:53569790G>C ENST00000025008.5 - 15 3122 c.2599C>G c.(2599-2601)Cta>Gta p.L867V RB1CC1_ENST00000435644.2_Missense_Mutation_p.L867V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L867V|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 867 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AAAGACAGTAGTTCTTTTTGA 0.264000 7 33 0 0 0.001984 0 0 KCNK16 83795 broad.mit.edu 37 6 39283006 39283006 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:39283006C>G ENST00000425054.2 - 5 862 c.863G>C c.(862-864)aGa>aCa p.R288T KCNK16_ENST00000373229.5_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 0 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 TGGTCTAAATCTCTCCTGGTC 0.552000 10 22 0 0 0.006214 0 0 OR6T1 219874 broad.mit.edu 37 11 123814028 123814028 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:123814028C>A ENST00000321252.2 - 1 552 c.518G>T c.(517-519)gGt>gTt p.G173V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGGTCAATACCATTGGGGCC 0.562000 25 21 7.76418e-22 8.57358e-22 0.005443 1 0 ST8SIA2 8128 broad.mit.edu 37 15 92981732 92981732 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:92981732C>T ENST00000268164.3 + 4 677 c.440C>T c.(439-441)tCg>tTg p.S147L ST8SIA2_ENST00000539113.1_Missense_Mutation_p.S126L NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 147 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CCCAGGACTTCGCCACTGAAG 0.537000 9 106 0 0 0.006214 0 0 DDR2 4921 broad.mit.edu 37 1 162749994 162749994 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:162749994C>G ENST00000367922.2 + 19 2964 c.2526C>G c.(2524-2526)ttC>ttG p.F842L DDR2_ENST00000367921.3_Missense_Mutation_p.F842L NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 842 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GTCCCTCATTCCAAGAAATCC 0.522000 8 98 0 0 0.004482 0 0 IFLTD1 160492 broad.mit.edu 37 12 25702360 25702360 + Nonsense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:25702360A>T ENST00000282881.6 - 2 296 c.147T>A c.(145-147)taT>taA p.Y49* IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000445693.1_Intron NM_152590.3 NP_689803.2 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 49 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GACTAGACAGATAGTAACCAA 0.398000 22 37 0 0 0.014323 0 0 C7orf62 219557 broad.mit.edu 37 7 88424117 88424117 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:88424117A>T ENST00000297203.2 - 2 325 c.140T>A c.(139-141)cTt>cAt p.L47H ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 47 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 CATCCTATCAAGAAGGAATTT 0.388000 40 97 0 0 0.010771 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87339931 87339931 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:87339931G>C ENST00000338056.3 + 5 880 c.469G>C c.(469-471)Gaa>Caa p.E157Q RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E140Q|RUNDC3B_ENST00000496000.1_3'UTR|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E140Q NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 157 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) ACATTTATCTGAATACATCTC 0.303000 14 29 0 0 0.003163 0 0 CDH20 28316 broad.mit.edu 37 18 59221721 59221721 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr18:59221721C>T ENST00000262717.4 + 12 2597 c.2199C>T c.(2197-2199)gcC>gcT p.A733A CDH20_ENST00000538374.1_Silent_p.A733A|CDH20_ENST00000536675.2_Silent_p.A733A Q9HBT6 CAD20_HUMAN cadherin 20, type 2 733 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TCTACGAGGCCGACATGGACC 0.642000 3 33 0 0 0.004672 0 0 LAMTOR1 55004 broad.mit.edu 37 11 71809262 71809262 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:71809262G>C ENST00000538404.1 - 4 477 c.466C>G c.(466-468)Ctg>Gtg p.L156V LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000539797.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LAMTOR1_ENST00000278671.5_Intron|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LAMTOR1_ENST00000545249.1_Intron Q6IAA8 LTOR1_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 0 Interaction with LAMTOR2 and LAMTOR3 (By similarity). cell growth|cellular protein localization|cellular response to amino acid stimulus|cholesterol homeostasis|endosome localization|endosome organization|lysosome localization|lysosome organization|positive regulation of MAPKKK cascade|positive regulation of TOR signaling cascade|regulation of cholesterol efflux|regulation of cholesterol esterification|regulation of cholesterol import|regulation of receptor recycling Golgi apparatus|lysosomal membrane|plasma membrane|Ragulator complex protein binding cervix(1) 1 CTCTGAGGCAGAGTGGGTGAA 0.582000 2 4 0 0 0.004672 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153575279 153575279 + Frame_Shift_Del DEL A A - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:153575279delA ENST00000326446.5 + 1 852 c.141delA c.(139-141)ggfs p.G47fs NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 47 integral to membrane kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 AGGAGGAGGGATGCGACCAAG 0.706 7 17 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 3 4 --- --- --- --- RINT1 60561 broad.mit.edu 37 7 105190824 105190834 + Frame_Shift_Del DEL TGAAAGGGAGC TGAAAGGGAGC - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:105190824_105190834delTGAAAGGGAGC ENST00000257700.2 + 9 1455_1465 c.1224_1234delTGAAAGGGAGC c.(1222-1236)tttafs p.FEREL408fs NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 408 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding p.R410M(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TACTCTTGTTTGAAAGGGAGCTACACAGTGT 0.417 8 183 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39149853 39149853 + Frame_Shift_Del DEL C C - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:39149853delC ENST00000297668.6 - 10 1672 c.1599delG c.(1597-1599)gcfs p.A533fs CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 533 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTCCCCAGCGCCCCCTGCT 0.542 4 9 --- --- --- --- ITGB1 3688 broad.mit.edu 37 10 33197461 33197462 + Splice_Site DEL CT CT - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:33197461_33197462delCT ENST00000396033.2 - 15 2300_2301 c.2164_splice c.e15-1 p.E722_splice ITGB1_ENST00000423113.1_Splice_Site_p.E722_splice|ITGB1_ENST00000302278.3_Splice_Site_p.E722_splice|ITGB1_ENST00000374956.4_Splice_Site_p.E722_splice NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 722 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) CAGTGGGACACTCTGGAAAATA 0.406 18 54 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105413766 105413767 + Frame_Shift_Del DEL AG AG - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:105413766_105413767delAG ENST00000333244.5 - 7 8140_8141 c.8021_8022delCT c.(8020-8022)tfs p.S2674fs AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2674 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTTCAGCTCAGACACATCCAC 0.564 59 226 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070154 33070154 + RNA DEL C C - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:33070154delC ENST00000561541.1 - 0 291 CCTATCACATCCCATTCCAGC 0.488 2 4 --- --- --- --- SLC7A5 8140 broad.mit.edu 37 16 87885358 87885359 + Frame_Shift_Ins INS - - A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:87885358_87885359insA ENST00000261622.4 - 2 700_701 c.635_636insT c.(634-636)actfs p.T212fs SLC7A5_ENST00000565644.1_5'UTR NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 212 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) AGCCCAGCAGGATGATCAGGGC 0.668 14 26 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80790225 80790226 + Frame_Shift_Ins INS - - A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:80790225_80790226insA ENST00000269394.3 - 2 938_939 c.105_106insT c.(103-108)aaagaafs p.KE35fs ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 35 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGTGACTTCTCATTGCAAGTAA 0.411 69 29 --- --- --- --- DNM2 1785 broad.mit.edu 37 19 10893634 10893635 + Splice_Site INS - - GGCTACATT TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:10893634_10893635insGGCTACATT ENST00000314646.5 + 6 852 c.e6-1 DNM2_ENST00000355667.6_Splice_Site|DNM2_ENST00000585892.1_Splice_Site|DNM2_ENST00000408974.4_Splice_Site|DNM2_ENST00000389253.4_Splice_Site|DNM2_ENST00000359692.6_Splice_Site P50570 DYN2_HUMAN dynamin 2 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCTCCCCACAGGCTACATTGG 0.574 """F, N, Splice, Mis, O""" ETP ALL 9 54 --- --- --- --- URI1 8725 broad.mit.edu 37 19 30505952 30505952 + Frame_Shift_Del DEL T T - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:30505952delT ENST00000392271.1 + 11 1881 c.1356delT c.(1354-1356)gcfs p.A453fs URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Frame_Shift_Del_p.A489fs|URI1_ENST00000542441.2_Frame_Shift_Del_p.A529fs NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 529 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding AGTTTAAAGCTGCCAGATTGC 0.413 27 75 --- --- --- --- ZNF334 55713 broad.mit.edu 37 20 45130984 45130985 + Frame_Shift_Ins INS - - A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:45130984_45130985insA ENST00000457685.2 - 6 2202_2203 c.879_880insT c.(877-882)ttggaafs p.LE293fs ZNF334_ENST00000593880.1_Frame_Shift_Ins_p.LE354fs|ZNF334_ENST00000347606.4_Frame_Shift_Ins_p.LE331fs Q9HCZ1 ZN334_HUMAN zinc finger protein 334 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GCTGACTTCCGAAAAAAGGTCT 0.436 7 185 --- --- --- --- BMP7 655 broad.mit.edu 37 20 55840910 55840910 + Frame_Shift_Del DEL A A - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:55840910delA ENST00000395863.3 - 1 774 c.269delT c.(268-270)agfs p.M90fs BMP7_ENST00000450594.2_Frame_Shift_Del_p.M90fs|BMP7_ENST00000395864.3_Frame_Shift_Del_p.M90fs NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 90 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CTCCACCGCCATGGCGTTGTA 0.672 7 9 --- --- --- ---