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 HPS3 84343 broad.mit.edu 37 3 148880568 148880568 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:148880568T>G ENST00000296051.2 + 13 2524 c.2384T>G c.(2383-2385)cTt>cGt p.L795R HPS3_ENST00000460120.1_Missense_Mutation_p.L630R NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 795 cytoplasm p.L795R(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GATGTGGTACTTCAGGAACTC 0.458000 Hermansky-Pudlak syndrome 28 62 0 0 0.740014 0 0 POLK 51426 broad.mit.edu 37 5 74892214 74892214 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:74892214A>G ENST00000241436.4 + 13 1868 c.1696A>G c.(1696-1698)Agt>Ggt p.S566G POLK_ENST00000380481.3_Missense_Mutation_p.S476G|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.S368G|POLK_ENST00000508526.1_Missense_Mutation_p.S368G|POLK_ENST00000506928.1_3'UTR NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 566 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding p.S566G(2) 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) TCATAAGAAGAGTTTCTTTGA 0.363000 DNA polymerases (catalytic subunits) 6 76 0 0 0.248553 0 0 VEGFC 7424 broad.mit.edu 37 4 177605128 177605128 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:177605128T>G ENST00000280193.2 - 7 1627 c.1212A>C c.(1210-1212)gaA>gaC p.E404D RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 404 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity p.E404D(1) biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AACGACACACTTCTTCACTAT 0.403000 23 84 0 0 0.639603 0 0 ABCC6 368 broad.mit.edu 37 16 16256971 16256971 + Nonsense_Mutation SNP C C A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:16256971C>A ENST00000205557.7 - 24 3414 c.3385G>T c.(3385-3387)Gag>Tag p.E1129* NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1129 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E1129*(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGGAACGTCTCAGCCATGTGG 0.567000 25 56 5.35356e-11 5.60339e-11 0.639603 1 0 SLC37A1 54020 broad.mit.edu 37 21 43945903 43945903 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr21:43945903T>G ENST00000352133.2 + 3 1056 c.74T>G c.(73-75)tTt>tGt p.F25C SLC37A1_ENST00000471277.1_3'UTR|SLC37A1_ENST00000398341.3_Missense_Mutation_p.F25C P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 25 carbohydrate transport|transmembrane transport integral to membrane p.F25C(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GCCTTCATTTTTATTTTGACA 0.373000 4 46 0 0 0.217242 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336857 104336857 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:104336857A>T ENST00000299767.5 + 13 1832 c.1650A>T c.(1648-1650)gaA>gaT p.E550D NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 550 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding p.E550D(1) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) TGTAGGCTGAATCTTCTCCAT 0.388000 35 104 0 0 0.853193 0 0 MIR517A 574479 broad.mit.edu 37 19 54215570 54215570 + RNA SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:54215570A>G ENST00000385001.1 + 0 49 NR_030201.1 TGTATAAAAGAAAAGATCGTG 0.458000 22 59 0 0 0.639603 0 0 C17orf104 284071 broad.mit.edu 37 17 42744680 42744680 + Silent SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:42744680T>G ENST00000409122.2 + 5 1543 c.1401T>G c.(1399-1401)tcT>tcG p.S467S C17orf104_ENST00000409464.1_Silent_p.S301S|C17orf104_ENST00000359945.3_Silent_p.S467S NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 467 p.S467S(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 CAGCAACATCTTCAGGAGGTA 0.328000 43 133 0 0 0.834066 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 3 102 0 0 0.115264 0 0 PMS1 5378 broad.mit.edu 37 2 190719714 190719714 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:190719714G>A ENST00000441310.2 + 9 1949 c.1716G>A c.(1714-1716)aaG>aaA p.K572K PMS1_ENST00000418224.3_Silent_p.K396K|PMS1_ENST00000409823.3_Silent_p.K533K|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Silent_p.K572K|PMS1_ENST00000432292.3_Silent_p.K396K NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 572 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GAGTAATCAAGAAACCCATGT 0.318000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 10 120 0 0 0.361761 0 0 PGBD1 84547 broad.mit.edu 37 6 28265725 28265725 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28265725G>A ENST00000405948.2 + 6 1246 c.826G>A c.(826-828)Gaa>Aaa p.E276K PGBD1_ENST00000259883.3_Missense_Mutation_p.E276K NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 276 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.E276K(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AGAAACTTCTGAAGAAATGGA 0.343000 12 63 0 0 0.387290 0 0 ERAP2 64167 broad.mit.edu 37 5 96253179 96253179 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:96253179T>G ENST00000437043.3 + 19 3464 c.2753T>G c.(2752-2754)tTt>tGt p.F918C CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.F873C NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 918 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.F918C(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AAACTATTTTTTGAATCTCTT 0.383000 22 113 0 0 0.639603 0 0 CD5L 922 broad.mit.edu 37 1 157805885 157805885 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:157805885A>C ENST00000368174.4 - 3 212 c.116T>G c.(115-117)gTg>gGg p.V39G CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 39 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.V39G(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTTCTGTTCCACCTCCACCCG 0.637000 10 104 0 0 0.624587 0 0 MYO5B 4645 broad.mit.edu 37 18 47462675 47462675 + Silent SNP C C G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:47462675C>G ENST00000285039.7 - 16 2249 c.1950G>C c.(1948-1950)acG>acC p.T650T NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 650 Actin-binding (Potential).|Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.T650T(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGTGAGGTGTCGTGGCATTCA 0.517000 2 6 0 0 0.115264 0 0 ATP1A4 480 broad.mit.edu 37 1 160124926 160124926 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:160124926T>G ENST00000368081.4 + 3 770 c.299T>G c.(298-300)tTc>tGc p.F100C NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 100 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.F100C(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGGTCAAATTCTGTAAGCAA 0.522000 19 85 0 0 0.575678 0 0 APOB 338 broad.mit.edu 37 2 21233338 21233338 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:21233338T>G ENST00000233242.1 - 26 6529 c.6402A>C c.(6400-6402)caA>caC p.Q2134H NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2134 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.Q2134H(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATGTGAAACTTGTCTCTCCC 0.343000 5 39 0 0 0.184627 0 0 TAOK2 9344 broad.mit.edu 37 16 29999087 29999087 + Missense_Mutation SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:29999087G>T ENST00000308893.4 + 16 4537 c.3494G>T c.(3493-3495)aGc>aTc p.S1165I TAOK2_ENST00000543033.1_Missense_Mutation_p.S1052I|TAOK2_ENST00000416441.2_Missense_Mutation_p.S992I|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1165 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.S1165I(1) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCACGGGCCAGCCAGGGTTTA 0.667000 11 58 0.010729 0.0110095 0.387290 1 0 TMEM198 130612 broad.mit.edu 37 2 220412409 220412409 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:220412409G>A ENST00000344458.2 + 4 933 c.348G>A c.(346-348)gtG>gtA p.V116V TMEM198_ENST00000373883.3_Silent_p.V116V Q66K66 TM198_HUMAN transmembrane protein 198 116 Leu-rich. integral to membrane p.V116V(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGCGCAGCGTGGGCCTCTTCC 0.701000 7 49 0 0 0.248553 0 0 MUC17 140453 broad.mit.edu 37 7 100678181 100678181 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:100678181T>C ENST00000306151.4 + 3 3548 c.3484T>C c.(3484-3486)Tta>Cta p.L1162L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1162 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.L1162L(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACCACTCCGTTAGCAAGTAT 0.517000 82 180 0 0 0.870114 0 0 REST 5978 broad.mit.edu 37 4 57797750 57797750 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:57797750T>G ENST00000309042.7 + 4 3040 c.2726T>G c.(2725-2727)cTt>cGt p.L909R NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 909 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding p.L909R(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CTACCTGGTCTTGCTGCTAAT 0.428000 3 74 0 0 0.115264 0 0 OR6C2 341416 broad.mit.edu 37 12 55846627 55846627 + Silent SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:55846627T>G ENST00000322678.1 + 1 630 c.630T>G c.(628-630)gtT>gtG p.V210V RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V210V(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TCACCCTAGTTTGTGTGATTC 0.408000 33 110 0 0 0.788014 0 0 CR2 1380 broad.mit.edu 37 1 207642160 207642160 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:207642160C>T ENST00000367057.3 + 4 839 c.650C>T c.(649-651)tCt>tTt p.S217F CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.S217F|CR2_ENST00000458541.2_Missense_Mutation_p.S217F|CR2_ENST00000367058.3_Missense_Mutation_p.S217F NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 217 Sushi 4. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.S217F(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CGCTGTAAATCTCTAGGACGA 0.408000 26 101 0 0 0.681144 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 3 66 0 0 0.361761 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20062036 20062036 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:20062036T>G ENST00000276390.2 + 2 218 c.178T>G c.(178-180)Tta>Gta p.L60V NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 60 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.L60V(1) endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) ACTAGTGATCTTAGATCATGT 0.313000 14 55 0 0 0.557998 0 0 EPG5 57724 broad.mit.edu 37 18 43534828 43534828 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:43534828T>G ENST00000282041.5 - 2 574 c.540A>C c.(538-540)gaA>gaC p.E180D NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 180 autophagy p.E180D(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTTGTTTGTCTTCTTTACTAT 0.418000 7 57 0 0 0.248553 0 0 LRCH1 23143 broad.mit.edu 37 13 47224374 47224374 + Missense_Mutation SNP T T A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:47224374T>A ENST00000311191.6 + 2 575 c.346T>A c.(346-348)Ttg>Atg p.L116M LRCH1_ENST00000389797.3_Missense_Mutation_p.L116M|LRCH1_ENST00000389798.3_Missense_Mutation_p.L116M NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 116 p.L116M(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TCCAATGGAATTGTGCCATTT 0.333000 10 30 0 0 0.335167 0 0 KLF16 83855 broad.mit.edu 37 19 1854696 1854696 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:1854696A>G ENST00000250916.4 - 2 591 c.521T>C c.(520-522)cTg>cCg p.L174P KLF16_ENST00000592313.1_5'UTR NM_031918.3 NP_114124.1 Q9BXK1 KLF16_HUMAN Kruppel-like factor 16 174 nucleus DNA binding|zinc ion binding p.L174P(1) lung(1) 1 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCGGGCCAGCTCGTCGGA 0.672000 4 26 0 0 0.335167 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835749 12835749 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:12835749T>C ENST00000357726.4 + 2 378 c.351T>C c.(349-351)tcT>tcC p.S117S NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 117 p.S117S(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCATATGGTCTGGAGCTTCTG 0.542000 15 174 0 0 0.520397 0 0 RUFY3 22902 broad.mit.edu 37 4 71665865 71665865 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:71665865A>C ENST00000381006.3 + 15 2144 c.1565A>C c.(1564-1566)aAg>aCg p.K522T RUFY3_ENST00000512331.1_3'UTR|RUFY3_ENST00000502653.1_Missense_Mutation_p.K469T NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 359 negative regulation of axonogenesis filopodium|growth cone p.K522T(1) endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) CAGGATGGGAAGCACAAAATG 0.328000 9 26 0 0 0.361761 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365668 37365668 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:37365668T>C ENST00000361924.2 + 14 2665 c.2291T>C c.(2290-2292)cTc>cCc p.L764P GOLGA4_ENST00000356847.4_Missense_Mutation_p.L786P|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 764 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding p.L764P(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTTGAGCTTCTCTTGAAGGAA 0.408000 5 74 0 0 0.217242 0 0 PWP2 5822 broad.mit.edu 37 21 45540652 45540652 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr21:45540652T>C ENST00000291576.7 + 12 1605 c.1478T>C c.(1477-1479)cTc>cCc p.L493P NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 493 cytoplasm|nucleolus signal transducer activity p.L493P(1) cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ACAGGCAGGCTCCTTGATGTA 0.632000 13 41 0 0 0.520397 0 0 C2CD5 9847 broad.mit.edu 37 12 22680702 22680702 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:22680702G>A ENST00000333957.4 - 4 557 c.302C>T c.(301-303)gCt>gTt p.A101V C2CD5_ENST00000396028.2_Missense_Mutation_p.A101V|C2CD5_ENST00000542676.1_Missense_Mutation_p.A101V|C2CD5_ENST00000545552.1_Missense_Mutation_p.A101V|C2CD5_ENST00000446597.1_Missense_Mutation_p.A101V|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.A101V NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 p.A101V(1) GACTGTTGCAGCTTCACTATA 0.323000 34 82 0 0 0.812448 0 0 MIR329-2 574409 broad.mit.edu 37 14 101493500 101493500 + RNA SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr14:101493500T>C ENST00000385029.1 + 0 64 NR_029968.1 CACACCTGGTTAACCTCTTTT 0.473000 8 126 0 0 0.335167 0 0 PRF1 5551 broad.mit.edu 37 10 72360376 72360376 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:72360376A>G ENST00000441259.1 - 2 443 c.283T>C c.(283-285)Tgg>Cgg p.W95R PRF1_ENST00000373209.2_Missense_Mutation_p.W95R NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 95 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity p.W95R(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TGGGCCCGCCAGTTGGTGAGC 0.657000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 7 17 0 0 0.278610 0 0 WDR96 80217 broad.mit.edu 37 10 105944850 105944850 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:105944850T>G ENST00000357060.3 - 16 2180 c.2065A>C c.(2065-2067)Atg>Ctg p.M689L WDR96_ENST00000428666.1_Missense_Mutation_p.M690L|WDR96_ENST00000278064.2_Missense_Mutation_p.M620L NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 689 p.M689L(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GAAATTCTCATTGACTGAATC 0.383000 5 107 0 0 0.217242 0 0 PLXND1 23129 broad.mit.edu 37 3 129305021 129305021 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:129305021T>C ENST00000393239.1 - 4 1893 c.1715A>G c.(1714-1716)gAg>gGg p.E572G PLXND1_ENST00000324093.4_Missense_Mutation_p.E572G Q9Y4D7 PLXD1_HUMAN plexin D1 572 axon guidance integral to membrane|intracellular|plasma membrane p.E572G(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TCACCGCGTCTCCAGGGCACA 0.701000 4 6 0 0 0.217242 0 0 PIK3R2 5296 broad.mit.edu 37 19 18279608 18279608 + Silent SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:18279608C>T ENST00000593731.1 + 15 2441 c.1881C>T c.(1879-1881)atC>atT p.I627I PIK3R2_ENST00000222254.7_Silent_p.I627I O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 627 SH2 2. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding p.I627I(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 TGGGCAAGATCAACCGCACGC 0.667000 OREG0025359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 0 0 0.115264 0 0 RENBP 5973 broad.mit.edu 37 X 153209152 153209152 + Missense_Mutation SNP C C A rs34430440 byFrequency TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:153209152C>A ENST00000412763.1 - 5 477 c.308G>T c.(307-309)cGg>cTg p.R103L RENBP_ENST00000369997.3_Missense_Mutation_p.R89L|RENBP_ENST00000393700.3_Missense_Mutation_p.R103L P51606 RENBP_HUMAN renin binding protein 103 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity p.R93L(1)|p.R103L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) CCGGGCATACCGCAGCAAGAA 0.632000 23 53 1.1804e-14 1.24377e-14 0.667858 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227223259 227223259 + Silent SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:227223259A>C ENST00000366769.3 - 24 4435 c.3144T>G c.(3142-3144)acT>acG p.T1048T CDC42BPA_ENST00000366767.3_Silent_p.T967T|CDC42BPA_ENST00000366765.3_Silent_p.T1061T|CDC42BPA_ENST00000535525.1_Silent_p.T1028T|CDC42BPA_ENST00000366764.2_Silent_p.T1020T|CDC42BPA_ENST00000366766.2_Silent_p.T1083T|CDC42BPA_ENST00000334218.5_Silent_p.T1048T NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1061 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.T1083T(1)|p.T1048T(1)|p.T967T(1) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GAACTGGACAAGTGGTTGGAG 0.378000 6 127 0 0 0.278610 0 0 LHB 3972 broad.mit.edu 37 19 49519935 49519935 + Missense_Mutation SNP C C T rs146354951 byFrequency TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:49519935C>T ENST00000221421.2 - 2 51 c.52G>A c.(52-54)Gca>Aca p.A18T NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 18 A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775). cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity p.A18T(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) GATGCCCATGCCCCGCCCATG 0.647000 3 45 0 0 0.115264 0 0 ZNF74 7625 broad.mit.edu 37 22 20754938 20754938 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr22:20754938A>C ENST00000400451.2 + 3 651 c.137A>C c.(136-138)aAg>aCg p.K46T ZNF74_ENST00000357502.5_Missense_Mutation_p.Q51H|ZNF74_ENST00000403682.3_Missense_Mutation_p.Q17H|ZNF74_ENST00000405993.1_Missense_Mutation_p.K46T|ZNF74_ENST00000356671.5_Missense_Mutation_p.K46T NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 46 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding p.K46T(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GTGAGTTTCAAGGATGTGGCT 0.502000 15 45 0 0 0.500413 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340050 29340050 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:29340050C>T ENST00000269205.5 - 1 793 c.605G>A c.(604-606)gGc>gAc p.G202D SLC25A52_ENST00000579441.2_Missense_Mutation_p.G192D NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 192 transport integral to membrane|mitochondrial inner membrane p.G192D(1)|p.G202D(1) ACCTCGAAGGCCGAAAAACAA 0.478000 10 68 0 0 0.361761 0 0 PGBD1 84547 broad.mit.edu 37 6 28264604 28264604 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28264604G>A ENST00000405948.2 + 5 1074 c.654G>A c.(652-654)aaG>aaA p.K218K PGBD1_ENST00000259883.3_Silent_p.K218K NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 218 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.K218K(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CATTGGTGAAGACTGAGGAAG 0.463000 14 71 0 0 0.457914 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626586 44626586 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:44626586T>C ENST00000576629.1 + 10 4576 c.4081T>C c.(4081-4083)Tcc>Ccc p.S1361P LRRC37A2_ENST00000333412.3_Missense_Mutation_p.S1361P|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1361 integral to membrane p.S1361P(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GGCTTTTTCATCCTTAGGAGA 0.413000 13 160 0 0 0.654019 0 0 ASB6 140459 broad.mit.edu 37 9 132402830 132402830 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:132402830G>A ENST00000277458.4 - 2 450 c.285C>T c.(283-285)ctC>ctT p.L95L ASB6_ENST00000450050.2_Intron|ASB6_ENST00000277459.4_Silent_p.L95L|RP11-483H20.4_ENST00000455074.1_RNA NM_017873.3 NP_060343.1 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box containing 6 95 intracellular signal transduction cytoplasm p.L95L(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) CTTCAAAGTTGAGATTGGCCC 0.652000 12 19 0 0 0.479597 0 0 NCAN 1463 broad.mit.edu 37 19 19338102 19338102 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:19338102G>A ENST00000252575.5 + 8 1716 c.1673G>A c.(1672-1674)gGc>gAc p.G558D NCAN_ENST00000538881.1_Missense_Mutation_p.G9D NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 558 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.G558D(1)|p.G572D(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TCTGCTGGTGGCAAGAGCTCC 0.607000 8 98 0 0 0.307466 0 0 TUSC3 7991 broad.mit.edu 37 8 15508234 15508234 + Missense_Mutation SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:15508234G>T ENST00000382020.4 + 3 545 c.337G>T c.(337-339)Gcg>Tcg p.A113S TUSC3_ENST00000503731.1_Missense_Mutation_p.A113S|TUSC3_ENST00000506802.1_Missense_Mutation_p.A113S|TUSC3_ENST00000509380.1_Missense_Mutation_p.A113S|TUSC3_ENST00000503191.1_Intron NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 113 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.A113S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) TCAAATACTGGCGAACTCCTG 0.393000 56 128 2.47907e-22 2.62982e-22 0.870114 1 0 PSG2 5670 broad.mit.edu 37 19 43576000 43576000 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:43576000A>G ENST00000406487.1 - 4 914 c.816T>C c.(814-816)tcT>tcC p.S272S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 272 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.S272S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TAATTGTCCAAGAATACTGTG 0.443000 51 55 0 0 0.870114 0 0 MTMR7 9108 broad.mit.edu 37 8 17188790 17188790 + Splice_Site SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:17188790A>C ENST00000180173.5 - 7 768 c.732_splice c.e7-1 p.L245_splice MTMR7_ENST00000521857.1_Splice_Site_p.L245_splice NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 245 Myotubularin phosphatase. protein tyrosine phosphatase activity p.L245R(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CATTGCATTAAGCTGCAGTGG 0.378000 22 29 0 0 0.608945 0 0 ZNF271P 10778 broad.mit.edu 37 18 32886980 32886980 + RNA SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:32886980T>C ENST00000399070.3 + 0 1374 NR_024565.1|NR_024566.1 p.F131S(1) large_intestine(3)|lung(9) 12 ATCACAGAATTCATACAGGTG 0.383000 4 63 0 0 0.150653 0 0 TTK 7272 broad.mit.edu 37 6 80723075 80723075 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:80723075A>C ENST00000509894.1 + 9 1805 c.976A>C c.(976-978)Aat>Cat p.N326H TTK_ENST00000369798.2_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H P33981 TTK_HUMAN TTK protein kinase 326 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.N310H(1)|p.N326H(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TGAATTAAGAAATTTAAAGGT 0.358000 13 151 0 0 0.479597 0 0 UTP14A 10813 broad.mit.edu 37 X 129059058 129059058 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:129059058C>T ENST00000394422.3 + 12 1664 c.1636C>T c.(1636-1638)Cct>Tct p.P546S RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.P492S|UTP14A_ENST00000425117.2_Missense_Mutation_p.P494S|UTP14A_ENST00000371042.3_Missense_Mutation_p.P378S NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 546 rRNA processing nucleolus|small-subunit processome protein binding p.P546S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AAATAATCGCCCTGATGCCCC 0.478000 19 97 0 0 0.592651 0 0 SLC4A10 57282 broad.mit.edu 37 2 162696373 162696373 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:162696373T>G ENST00000375514.5 + 5 672 c.385T>G c.(385-387)Ttc>Gtc p.F129V SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F118V|SLC4A10_ENST00000535165.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.F118V NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 118 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.F118V(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCATGACCTTTTCACAGAACT 0.443000 5 67 0 0 0.184627 0 0 PGBD1 84547 broad.mit.edu 37 6 28264697 28264697 + Missense_Mutation SNP G G C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28264697G>C ENST00000405948.2 + 5 1167 c.747G>C c.(745-747)gaG>gaC p.E249D PGBD1_ENST00000259883.3_Missense_Mutation_p.E249D NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 249 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.E249D(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CAGCTCAGGAGACAGTTATGA 0.567000 9 47 0 0 0.307466 0 0 UBA6 55236 broad.mit.edu 37 4 68506908 68506908 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:68506908G>A ENST00000322244.4 - 18 1574 c.1515C>T c.(1513-1515)aaC>aaT p.N505N NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 505 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding p.N505N(1) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 GTCTATTTAAGTTGGATTTCT 0.279000 69 136 0 0 0.870114 0 0 RETSAT 54884 broad.mit.edu 37 2 85570424 85570424 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:85570424A>C ENST00000295802.4 - 11 1886 c.1774T>G c.(1774-1776)Ttg>Gtg p.L592V RETSAT_ENST00000457495.2_Missense_Mutation_p.L531V|RETSAT_ENST00000263854.6_3'UTR NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 592 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.L592V(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TCTGAGTACAAGTTCCGCTTC 0.537000 20 43 0 0 0.592651 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108420 64108420 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:64108420T>G ENST00000356786.5 + 3 292 c.248T>G c.(247-249)cTt>cGt p.L83R CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 83 microtubule cytoskeleton organization cytoplasm microtubule binding p.L83R(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCAGAGGCCTTGACGGACCT 0.667000 21 89 0 0 0.693898 0 0 FAM214A 56204 broad.mit.edu 37 15 52874472 52874472 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr15:52874472A>T ENST00000261844.7 - 13 3262 c.3110T>A c.(3109-3111)cTc>cAc p.L1037H RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.L1044H NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 1037 p.L1037H(1) GTCTCTATGGAGGTAGATCTT 0.358000 12 18 0 0 0.479597 0 0 ZMYND11 10771 broad.mit.edu 37 10 255922 255922 + Silent SNP A A T rs138135446 byFrequency TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:255922A>T ENST00000309776.4 + 3 638 c.90A>T c.(88-90)acA>acT p.T30T ZMYND11_ENST00000397959.3_Silent_p.T70T|ZMYND11_ENST00000381584.1_Silent_p.T53T|ZMYND11_ENST00000402736.1_Silent_p.T70T|ZMYND11_ENST00000602682.1_Silent_p.T70T|ZMYND11_ENST00000381607.4_Silent_p.T30T|ZMYND11_ENST00000509513.2_Silent_p.T70T|ZMYND11_ENST00000558098.2_Silent_p.T70T|ZMYND11_ENST00000403354.1_Silent_p.T70T|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000545619.1_Silent_p.T30T|ZMYND11_ENST00000381591.1_Silent_p.T70T|ZMYND11_ENST00000381604.4_Silent_p.T30T|ZMYND11_ENST00000381602.4_Silent_p.T30T|ZMYND11_ENST00000397962.3_Silent_p.T70T NM_001202466.1|NM_006624.5 NP_001189395.1|NP_006615.2 Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 30 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T70T(2)|p.T30T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAACTCTAACAGTGGGCTGCA 0.418000 45 97 0 0 0.864702 0 0 PSG2 5670 broad.mit.edu 37 19 43576051 43576051 + Missense_Mutation SNP A A C rs1058095 TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:43576051A>C ENST00000406487.1 - 4 863 c.765T>G c.(763-765)gaT>gaG p.D255E NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 255 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.D255E(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) AGTAGAGGTTATCTCCTGAAC 0.458000 62 47 0 0 0.870114 0 0 SPHK2 56848 broad.mit.edu 37 19 49132515 49132515 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:49132515T>C ENST00000443164.1 + 5 2341 c.1636T>C c.(1636-1638)Tca>Cca p.S546P SPHK2_ENST00000599029.1_Missense_Mutation_p.S448P|SPHK2_ENST00000599748.1_Missense_Mutation_p.S448P|SPHK2_ENST00000600537.1_Missense_Mutation_p.S425P|SPHK2_ENST00000598088.1_Missense_Mutation_p.S484P|SPHK2_ENST00000245222.4_Missense_Mutation_p.S484P|SPHK2_ENST00000340932.3_Missense_Mutation_p.S446P Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 484 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity p.S484P(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) AGCTCTACACTCACCCGTCTC 0.697000 8 91 0 0 0.361761 0 0 PABPC3 5042 broad.mit.edu 37 13 25670991 25670991 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:25670991A>G ENST00000281589.3 + 1 692 c.655A>G c.(655-657)Agt>Ggt p.S219G NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 219 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.S219G(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GCCCGCCTTAAGTGTGAAAGT 0.418000 4 68 0 0 0.184627 0 0 BCOR 54880 broad.mit.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:39921444T>C ENST00000342274.4 - 10 4636 c.4274A>G c.(4273-4275)aAt>aGt p.N1425S BCOR_ENST00000378444.4_Missense_Mutation_p.N1459S|BCOR_ENST00000397354.3_Missense_Mutation_p.N1425S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1407S|BCOR_ENST00000378463.1_Missense_Mutation_p.N302S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1459 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.N1425S(12) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 AGCGTTCTTATTGACAATAAG 0.647000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 7 14 0 0 0.248553 0 0 ZXDA 7789 broad.mit.edu 37 X 57935082 57935082 + Silent SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:57935082G>T ENST00000358697.4 - 1 1985 c.1773C>A c.(1771-1773)acC>acA p.T591T NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 591 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T591T(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GTCTCTGGCTGGTAAGTTCAC 0.473000 24 75 2.79863e-10 2.90984e-10 0.681144 1 0 TBX4 9496 broad.mit.edu 37 17 59543207 59543207 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:59543207A>C ENST00000393853.4 + 4 472 c.309A>C c.(307-309)aaA>aaC p.K103N TBX4_ENST00000240335.1_Missense_Mutation_p.K103N P57082 TBX4_HUMAN T-box 4 103 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.K103N(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACAAGGTAAAAGTCACAGGCA 0.542000 15 66 0 0 0.479597 0 0 GALNS 2588 broad.mit.edu 37 16 88898418 88898418 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:88898418G>A ENST00000268695.5 - 9 1078 c.990C>T c.(988-990)gtC>gtT p.V330V GALNS_ENST00000542788.1_Silent_p.V255V NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 330 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity p.V330V(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GGCCTGCAGTGACGTGCCCTG 0.677000 15 16 0 0 0.457914 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306126 58306126 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr15:58306126T>C ENST00000249750.4 - 3 1060 c.293A>G c.(292-294)gAt>gGt p.D98G ALDH1A2_ENST00000347587.3_Missense_Mutation_p.D98G|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.D2G|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.D77G|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.D69G NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 98 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.D98G(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTCTGAAGCATCCATCCTTCT 0.483000 94 190 0 0 0.870114 0 0 ANKRD55 79722 broad.mit.edu 37 5 55422837 55422837 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:55422837T>G ENST00000341048.4 - 8 860 c.709A>C c.(709-711)Atc>Ctc p.I237L ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Missense_Mutation_p.I194L NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 236 p.I237L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GCCGCTGCGATATGTACACAT 0.502000 46 128 0 0 0.870114 0 0 SERPINB5 5268 broad.mit.edu 37 18 61160237 61160237 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:61160237T>G ENST00000382771.4 + 5 768 c.476T>G c.(475-477)aTc>aGc p.I159S SERPINB5_ENST00000489441.1_Missense_Mutation_p.I159S|SERPINB5_ENST00000464346.1_3'UTR NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 159 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity p.I159S(1) kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 CAGACCAAAATCCTTGTGGTT 0.388000 6 223 0 0 0.217242 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33091950 33091950 + Missense_Mutation SNP T T G rs138840363 TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:33091950T>G ENST00000267068.3 - 6 1905 c.1741A>C c.(1741-1743)Aat>Cat p.N581H N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 581 p.N581H(1) kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TAATGATTATTTGTGACACAG 0.408000 3 35 0 0 0.115264 0 0 TOB1 10140 broad.mit.edu 37 17 48941171 48941171 + Nonsense_Mutation SNP G G A rs142442521 by1000genomes TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:48941171G>A ENST00000499247.2 - 2 641 c.208C>T c.(208-210)Caa>Taa p.Q70* TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Nonsense_Mutation_p.Q70* NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 70 negative regulation of cell proliferation SH3/SH2 adaptor activity p.Q70*(1) breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TTGGATGCTTGTTCAATCACT 0.428000 14 196 0 0 0.435327 0 0 MYO1C 4641 broad.mit.edu 37 17 1369047 1369047 + Splice_Site SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:1369047C>T ENST00000359786.5 - 32 3490 c.e32-1 MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site|MYO1C_ENST00000575158.1_Splice_Site NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GTGGGGCGACCTGTGGGGGCG 0.567000 26 40 0 0 0.706142 0 0 RELN 5649 broad.mit.edu 37 7 103202292 103202292 + Silent SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:103202292T>G ENST00000428762.1 - 35 5478 c.5319A>C c.(5317-5319)tcA>tcC p.S1773S RELN_ENST00000343529.5_Silent_p.S1773S|RELN_ENST00000424685.2_Silent_p.S1773S NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1773 EGF-like 4. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S1773S(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCCTCGTCCTGAGCACATCC 0.473000 15 29 0 0 0.520397 0 0 NCSTN 23385 broad.mit.edu 37 1 160318908 160318908 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:160318908A>G ENST00000368063.1 + 4 530 c.250A>G c.(250-252)Acc>Gcc p.T84A NCSTN_ENST00000294785.5_Missense_Mutation_p.T104A|NCSTN_ENST00000535857.1_Missense_Mutation_p.T104A|NCSTN_ENST00000392212.4_Missense_Mutation_p.T84A Q92542 NICA_HUMAN nicastrin 104 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding p.T104A(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGCATTTTACCAGGTAAGA 0.473000 11 53 0 0 0.387290 0 0 DEFB125 245938 broad.mit.edu 37 20 76828 76828 + Missense_Mutation SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr20:76828G>T ENST00000382410.2 + 2 241 c.241G>T c.(241-243)Gat>Tat p.D81Y NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 81 defense response to bacterium extracellular region p.D81Y(1) central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TATAACATTGGATTATAGTGA 0.368000 57 114 2.47907e-22 2.62982e-22 0.870114 1 0 DST 667 broad.mit.edu 37 6 56470190 56470190 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:56470190T>G ENST00000370754.5 - 39 9136 c.9137A>C c.(9136-9138)aAa>aCa p.K3046T DST_ENST00000361203.3_Missense_Mutation_p.K2868T|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.K2542T|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.K2868T|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.K2868T Q03001 DYST_HUMAN dystonin 2868 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCTTGTATTTTTACCAGGCAA 0.338000 3 87 0 0 0.150653 0 0 EFHB 151651 broad.mit.edu 37 3 19921190 19921190 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:19921190T>G ENST00000295824.9 - 13 2596 c.2435A>C c.(2434-2436)gAg>gCg p.E812A EFHB_ENST00000344838.4_Missense_Mutation_p.E682A NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 812 signal transduction proteinaceous extracellular matrix calcium ion binding p.E810A(1)|p.E812A(1) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TCTGATGTTCTCAACACAAAC 0.363000 33 98 0 0 0.769981 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224294 172224294 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:172224294A>C ENST00000241261.2 - 5 956 c.834T>G c.(832-834)ttT>ttG p.F278L TNFSF10_ENST00000420541.2_3'UTR NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 278 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding p.F278L(1) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGCCAACTAAAAAGGCCCCAA 0.363000 4 75 0 0 0.150653 0 0 PGBD1 84547 broad.mit.edu 37 6 28265744 28265744 + Missense_Mutation SNP G G C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28265744G>C ENST00000405948.2 + 6 1265 c.845G>C c.(844-846)gGa>gCa p.G282A PGBD1_ENST00000259883.3_Missense_Mutation_p.G282A NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 282 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.G282A(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GAACAAAGTGGAGAAGCCTCA 0.353000 13 53 0 0 0.457914 0 0 PARP3 10039 broad.mit.edu 37 3 51978834 51978834 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:51978834A>T ENST00000417220.2 + 6 1030 c.542A>T c.(541-543)cAg>cTg p.Q181L PARP3_ENST00000398755.3_Missense_Mutation_p.Q188L|PARP3_ENST00000431474.1_Missense_Mutation_p.Q181L Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 181 DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.Q188L(1) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAGCGGGTGCAGCCCTGCTCC 0.602000 7 14 0 0 0.278610 0 0 WDR19 57728 broad.mit.edu 37 4 39201143 39201143 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:39201143A>C ENST00000399820.3 + 6 606 c.452A>C c.(451-453)aAt>aCt p.N151T WDR19_ENST00000506503.1_Missense_Mutation_p.N151T|WDR19_ENST00000288634.7_5'UTR NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 151 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding p.N151T(1) large_intestine(1) 1 AATGCAGAAAATCTGCTTGCT 0.338000 14 48 0 0 0.500413 0 0 NCOR1 9611 broad.mit.edu 37 17 16062117 16062117 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:16062117T>C ENST00000268712.3 - 6 946 c.689A>G c.(688-690)cAg>cGg p.Q230R NCOR1_ENST00000395848.1_Missense_Mutation_p.Q121R|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q230R NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 230 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.Q230R(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GCGGTGTTTCTGCTCCACAGG 0.493000 3 58 0 0 0.150653 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189052 140189052 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:140189052T>C ENST00000530339.1 + 1 2280 c.2280T>C c.(2278-2280)tcT>tcC p.S760S PCDHA4_ENST00000512229.2_Silent_p.S760S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S760S|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 p.S760S(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGTGCTCTGGTGAGGGCC 0.632000 4 104 0 0 0.184627 0 0 ZNF391 346157 broad.mit.edu 37 6 27368305 27368305 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:27368305A>C ENST00000244576.4 + 3 701 c.156A>C c.(154-156)gaA>gaC p.E52D NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E52D(2) endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 CACTCAAAGAAATTTTCACAG 0.423000 32 64 0 0 0.750413 0 0 SRBD1 55133 broad.mit.edu 37 2 45778344 45778344 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:45778344C>T ENST00000263736.4 - 12 1657 c.1595G>A c.(1594-1596)aGc>aAc p.S532N SRBD1_ENST00000535761.1_Missense_Mutation_p.S51N NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 532 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding p.S532N(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TGGAACAGGGCTTGTTAAAAG 0.393000 5 43 0 0 0.184627 0 0 NCOR1 9611 broad.mit.edu 37 17 15938112 15938112 + Missense_Mutation SNP C C G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:15938112C>G ENST00000268712.3 - 45 7359 c.7102G>C c.(7102-7104)Ggg>Cgg p.G2368R NCOR1_ENST00000395857.3_Missense_Mutation_p.G952R|NCOR1_ENST00000395851.1_Missense_Mutation_p.G2265R NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2368 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.G2368R(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGGCCCACCCTGGCGTCTGC 0.468000 5 110 0 0 0.184627 0 0 CYLD 1540 broad.mit.edu 37 16 50783950 50783950 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:50783950A>C ENST00000540145.1 + 4 756 c.341A>C c.(340-342)aAa>aCa p.K114T CYLD_ENST00000311559.9_Missense_Mutation_p.K114T|CYLD_ENST00000569418.1_Missense_Mutation_p.K114T|CYLD_ENST00000427738.3_Missense_Mutation_p.K114T|CYLD_ENST00000568704.2_Missense_Mutation_p.K114T|CYLD_ENST00000566206.1_Missense_Mutation_p.K114T|CYLD_ENST00000564326.1_Missense_Mutation_p.K114T|CYLD_ENST00000398568.2_Missense_Mutation_p.K114T Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 114 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.K114T(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AGCCTGTTTAAAAACAGAAAC 0.403000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 8 128 0 0 0.278610 0 0 PGBD1 84547 broad.mit.edu 37 6 28264610 28264610 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28264610G>A ENST00000405948.2 + 5 1080 c.660G>A c.(658-660)gaG>gaA p.E220E PGBD1_ENST00000259883.3_Silent_p.E220E NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 220 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.E220E(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGAAGACTGAGGAAGAAACAG 0.468000 13 68 0 0 0.435327 0 0 FUT7 2529 broad.mit.edu 37 9 139925457 139925457 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:139925457G>A ENST00000314412.6 - 2 1752 c.734C>T c.(733-735)gCa>gTa p.A245V C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 245 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.A245V(1) NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGCCACCAGTGCGTTGCGCCA 0.627000 34 87 0 0 0.779181 0 0 TDP2 51567 broad.mit.edu 37 6 24651080 24651080 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:24651080A>G ENST00000341060.3 - 6 1246 c.851T>C c.(850-852)cTg>cCg p.L284P TDP2_ENST00000545995.1_Missense_Mutation_p.L372P|TDP2_ENST00000378198.4_Missense_Mutation_p.L342P O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 342 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity p.L342P(1) kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 ACCACAGTCCAGTTTTTCTAA 0.403000 Direct reversal of damage 22 52 0 0 0.639603 0 0 KMT2E 55904 broad.mit.edu 37 7 104749673 104749673 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:104749673A>G ENST00000334877.4 + 23 4287 c.3753A>G c.(3751-3753)caA>caG p.Q1251Q KMT2E_ENST00000257745.4_Silent_p.Q1251Q|KMT2E_ENST00000334914.7_Silent_p.Q306Q|KMT2E_ENST00000311117.3_Silent_p.Q1251Q lysine (K)-specific methyltransferase 2E p.Q1251Q(1) CAGAAGTTCAATGGTAAGCCC 0.398000 8 13 0 0 0.307466 0 0 ANKFN1 162282 broad.mit.edu 37 17 54517778 54517778 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:54517778T>C ENST00000566473.2 + 8 1010 c.1010T>C c.(1009-1011)cTt>cCt p.L337P ANKFN1_ENST00000318698.2_Missense_Mutation_p.L337P Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 337 Fibronectin type-III. p.L337P(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ATCACAGGACTTACAATGGTA 0.428000 4 81 0 0 0.150653 0 0 KRR1 11103 broad.mit.edu 37 12 75897801 75897801 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:75897801A>T ENST00000229214.4 - 7 737 c.714T>A c.(712-714)agT>agA p.S238R KRR1_ENST00000438169.2_Intron NM_007043.6 NP_008974.5 Q13601 KRR1_HUMAN KRR1, small subunit (SSU) processome component, homolog (yeast) 238 rRNA processing nucleolus|ribonucleoprotein complex RNA binding p.S238R(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 ATCTCTCCCAACTTTGTGATC 0.343000 8 124 0 0 0.278610 0 0 UTP20 27340 broad.mit.edu 37 12 101723073 101723073 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:101723073T>G ENST00000261637.4 + 27 3437 c.3263T>G c.(3262-3264)gTt>gGt p.V1088G NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1088 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding p.V1088G(1) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TTGTCTAAAGTTCTTCCTTTA 0.413000 8 100 0 0 0.278610 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529864 140529864 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:140529864A>C ENST00000231136.1 + 1 26 c.26A>C c.(25-27)aAg>aCg p.K9T 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 p.K9T(1) 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) GTACAGAACAAGAAAAGGCAA 0.433000 4 159 0 0 0.150653 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209755 140209755 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:140209755G>A ENST00000529310.1 + 1 2193 c.2079G>A c.(2077-2079)ctG>ctA p.L693L PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.L693L(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCGGCGCTGGTGGATGTCA 0.677000 42 31 0 0 0.834066 0 0 OR4A5 81318 broad.mit.edu 37 11 51412305 51412305 + Missense_Mutation SNP G G C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:51412305G>C ENST00000319760.6 - 1 143 c.91C>G c.(91-93)Ctc>Gtc p.L31V NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L31V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AAGTATGTGAGTAAAAACATG 0.428000 19 39 0 0 0.539581 0 0 DSG4 147409 broad.mit.edu 37 18 28979256 28979256 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:28979256C>T ENST00000359747.4 + 9 1056 c.1027C>T c.(1027-1029)Cct>Tct p.P343S RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P343S|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 343 Cadherin 3. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.P343S(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGAACAAGCACCTAACATTCA 0.373000 30 71 0 0 0.729181 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 19 0 0 0.115264 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800787 24800787 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:24800787A>C ENST00000395799.3 + 6 953 c.824A>C c.(823-825)aAc>aCc p.N275T TNRC6A_ENST00000315183.7_Missense_Mutation_p.N275T NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 275 Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding p.N275T(1) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GCTTCAGGGAACACAGGTGGT 0.483000 4 102 0 0 0.150653 0 0 TRERF1 55809 broad.mit.edu 37 6 42231109 42231109 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:42231109G>A ENST00000541110.1 - 8 2401 c.1833C>T c.(1831-1833)tcC>tcT p.S611S TRERF1_ENST00000372922.4_Silent_p.S611S|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 611 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.S611S(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGTCTCTGGCGGAGGGGGCGG 0.657000 5 82 0 0 0.184627 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99337939 99337939 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:99337939T>C ENST00000408927.3 + 8 920 c.807T>C c.(805-807)tgT>tgC p.C269C RAP1GDS1_ENST00000453712.2_Silent_p.C270C|RAP1GDS1_ENST00000408900.3_Silent_p.C220C|RAP1GDS1_ENST00000264572.7_Silent_p.C178C|RAP1GDS1_ENST00000380158.4_Silent_p.C221C|RAP1GDS1_ENST00000339360.5_Silent_p.C270C NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 269 binding|GTPase activator activity p.C270C(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TAGTAGAGTGTCTACTAGAGA 0.363000 T NUP98 T-ALL 24 67 0 0 0.624587 0 0 ANTXR1 84168 broad.mit.edu 37 2 69330049 69330049 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:69330049A>C ENST00000303714.4 + 10 1101 c.779A>C c.(778-780)aAg>aCg p.K260T ANTXR1_ENST00000409829.3_Missense_Mutation_p.K260T|ANTXR1_ENST00000409349.3_Missense_Mutation_p.K260T NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 260 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity p.K260T(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TGCAGCTTCAAGATCAATGAC 0.493000 Familial Infantile Hemangioma 61 130 0 0 0.870114 0 0 GALNT12 79695 broad.mit.edu 37 9 101594148 101594148 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:101594148A>C ENST00000375011.3 + 4 826 c.826A>C c.(826-828)Atc>Ctc p.I276L NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 276 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I276L(1) breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) GGAGCCCCAGATCGGCGGTTT 0.577000 7 13 0 0 0.278610 0 0 SP1 6667 broad.mit.edu 37 12 53805023 53805023 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:53805023G>A ENST00000426431.2 + 6 2396 c.2336G>A c.(2335-2337)tGa>tAa p.*779* SP1_ENST00000327443.4_Silent_p.*786* NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 0 Domain D.|VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.*786*(1) breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) AATGGCTTCTGAGATCAGGCA 0.552000 4 39 0 0 0.184627 0 0 BPHL 670 broad.mit.edu 37 6 3129325 3129325 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:3129325G>A ENST00000380368.2 + 5 1018 c.374G>A c.(373-375)gGc>gAc p.G125D BPHL_ENST00000434640.1_Missense_Mutation_p.G125D|BPHL_ENST00000380379.5_Missense_Mutation_p.G142D|BPHL_ENST00000380375.3_Missense_Mutation_p.G125D Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 142 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity p.G125D(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) AGTGATGGGGGCATAACCGCA 0.488000 4 91 0 0 0.150653 0 0 LCT 3938 broad.mit.edu 37 2 136581471 136581471 + Splice_Site SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:136581471C>T ENST00000264162.2 - 4 917 c.907_splice c.e4+1 p.A303_splice NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 303 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.A303T(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCCCACTCACCTTCAAAAAGG 0.502000 9 32 0 0 0.361761 0 0 PNPLA8 50640 broad.mit.edu 37 7 108137971 108137971 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:108137971T>G ENST00000426128.2 - 5 1534 c.1409A>C c.(1408-1410)aAg>aCg p.K470T PNPLA8_ENST00000453144.1_Missense_Mutation_p.K370T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K470T|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000388728.5_Missense_Mutation_p.K470T|PNPLA8_ENST00000422087.1_Missense_Mutation_p.K470T|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K470T NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 470 Patatin. fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity p.K470T(1) breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 ATGAACTGGCTTCTGAGTAAG 0.363000 9 44 0 0 0.335167 0 0 GAS7 8522 broad.mit.edu 37 17 9828912 9828912 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:9828912C>T ENST00000396115.1 - 11 1149 c.839G>A c.(838-840)cGg>cAg p.R280Q GAS7_ENST00000323816.4_Missense_Mutation_p.R276Q|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.R340Q|GAS7_ENST00000542249.1_Missense_Mutation_p.R285Q|GAS7_ENST00000580865.1_Missense_Mutation_p.R200Q|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.R276Q|GAS7_ENST00000579158.1_Missense_Mutation_p.R292Q|GAS7_ENST00000585266.1_Missense_Mutation_p.R276Q NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 340 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity p.R340Q(2)|p.R200Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GAGGGCTTTCCGGGCCTGGGG 0.617000 T MLL AML* 24 16 0 0 0.639603 0 0 CERKL 375298 broad.mit.edu 37 2 182403906 182403906 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:182403906T>G ENST00000410087.3 - 12 1551 c.1451A>C c.(1450-1452)gAg>gCg p.E484A CERKL_ENST00000339098.5_Missense_Mutation_p.E510A|CERKL_ENST00000374969.2_Missense_Mutation_p.E371A|CERKL_ENST00000374970.2_Missense_Mutation_p.E415A|CERKL_ENST00000409440.3_Missense_Mutation_p.E466A NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 510 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity p.E484A(1)|p.E510A(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCCTCCTCCTCCTCTGGATT 0.353000 33 49 0 0 0.740014 0 0 TTLL7 79739 broad.mit.edu 37 1 84415658 84415658 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:84415658T>C ENST00000260505.8 - 4 546 c.169A>G c.(169-171)Ata>Gta p.I57V TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 57 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity p.I57V(1) kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ATTTCATCTATTACTAAACGA 0.308000 12 18 0 0 0.387290 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548004 47548004 + Splice_Site SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:47548004A>C ENST00000334194.3 + 4 367 c.e4-1 NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.?(1) cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCATTTCATAAGGTCGAGGAC 0.448000 10 35 0 0 0.387290 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739364 15739364 + RNA SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:15739364T>G ENST00000441682.2 + 0 1334 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 p.F424V(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CATCAACATCTTCGCAATCCA 0.622000 30 206 0 0 0.760397 0 0 GFAP 2670 broad.mit.edu 37 17 42988815 42988815 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:42988815G>A ENST00000253408.5 - 6 981 c.916C>T c.(916-918)Ctg>Ttg p.L306L GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Silent_p.L306L|GFAP_ENST00000586793.1_Silent_p.L306L NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 306 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton p.L306L(2) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TGCCTCTCCAGGGACTCGTTC 0.726000 12 40 0 0 0.411799 0 0 TTN 7273 broad.mit.edu 37 2 179572258 179572258 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:179572258A>C ENST00000589042.1 - 100 29260 c.29036T>G c.(29035-29037)aTt>aGt p.I9679S TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9362S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8435S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9362 Ig-like 78. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I8435S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTACCTTTAATGGTCACTTT 0.383000 11 17 0 0 0.387290 0 0 ATRX 546 broad.mit.edu 37 X 76872168 76872168 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:76872168A>G ENST00000373344.5 - 22 5693 c.5479T>C c.(5479-5481)Ttg>Ctg p.L1827L ATRX_ENST00000395603.3_Silent_p.L1789L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1827 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.L1827L(2)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTGGAGGCAAGAATTTTGTT 0.313000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 5 79 0 0 0.184627 0 0 FAM21C 253725 broad.mit.edu 37 10 46261127 46261127 + Splice_Site SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:46261127G>A ENST00000336378.4 + 19 1856 c.1737_splice c.e19-1 p.D580_splice FAM21C_ENST00000540872.1_Splice_Site_p.D580_splice|FAM21C_ENST00000537517.1_Splice_Site_p.D556_splice|FAM21C_ENST00000359860.4_Splice_Site_p.D524_splice|FAM21C_ENST00000374362.2_Splice_Site_p.D580_splice NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 580 p.D579N(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GCTTTTCTAGGATAATCTTTT 0.403000 44 88 0 0 0.870114 0 0 CCDC24 149473 broad.mit.edu 37 1 44461327 44461327 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:44461327G>A ENST00000372318.3 + 7 778 c.607G>A c.(607-609)Gag>Aag p.E203K CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 203 p.E203K(1) endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGCAGCCCTGGAGCCCACCCT 0.647000 5 6 0 0 0.184627 0 0 CACNA1B 774 broad.mit.edu 37 9 140811791 140811791 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:140811791T>G ENST00000371372.1 + 6 1019 c.874T>G c.(874-876)Ttt>Gtt p.F292V CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292V|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 292 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.F292V(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGGACCCAACTTTGGCATCAC 0.582000 14 62 0 0 0.435327 0 0 MICAL3 57553 broad.mit.edu 37 22 18389374 18389374 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr22:18389374A>C ENST00000441493.2 - 2 557 c.205T>G c.(205-207)Ttg>Gtg p.L69V MICAL3_ENST00000585038.1_Missense_Mutation_p.L69V|MICAL3_ENST00000400561.2_Missense_Mutation_p.L69V|MICAL3_ENST00000383094.3_Missense_Mutation_p.L69V|MICAL3_ENST00000207726.7_Missense_Mutation_p.L69V|MICAL3_ENST00000444520.1_Missense_Mutation_p.L69V|MICAL3_ENST00000414725.2_Missense_Mutation_p.L69V|MICAL3_ENST00000429452.1_Missense_Mutation_p.L69V NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 69 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.L69V(3) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CGTTTGTCCAATTTTGCCCAG 0.502000 53 109 0 0 0.870114 0 0 EXOC1 55763 broad.mit.edu 37 4 56724547 56724547 + Silent SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:56724547C>T ENST00000381295.2 + 2 406 c.58C>T c.(58-60)Ctg>Ttg p.L20L EXOC1_ENST00000349598.6_Silent_p.L20L|EXOC1_ENST00000346134.7_Silent_p.L20L NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 20 exocytosis|protein transport exocyst protein binding p.L20L(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TGATGAACGCCTGCTGAGCAT 0.363000 44 83 0 0 0.870114 0 0 UBR5 51366 broad.mit.edu 37 8 103324705 103324705 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:103324705T>G ENST00000520539.1 - 17 2622 c.2016A>C c.(2014-2016)aaA>aaC p.K672N UBR5_ENST00000220959.4_Missense_Mutation_p.K672N|UBR5_ENST00000521922.1_Missense_Mutation_p.K666N NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 672 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.K672N(1) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CACCATCTACTTTTAGCACCT 0.368000 35 73 0 0 0.853193 0 0 HS6ST1 9394 broad.mit.edu 37 2 129025897 129025897 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:129025897A>G ENST00000259241.6 - 2 1088 c.1075T>C c.(1075-1077)Tac>Cac p.Y359H NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 359 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.Y359H(1) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) TTGTACTGGTAGCGCTGCTGG 0.662000 18 54 0 0 0.557998 0 0 SSPO 23145 broad.mit.edu 37 7 149492740 149492740 + RNA SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:149492740T>G ENST00000378016.2 + 0 6520 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCTGGCATCTTGCCCCTGCC 0.592000 63 111 0 0 0.870114 0 0 RPLP2 6181 broad.mit.edu 37 11 812597 812597 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:812597T>C ENST00000321153.4 + 4 629 c.235T>C c.(235-237)Tct>Cct p.S79P RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.S79P NM_001004.3 NP_000995.1 P05387 RLA2_HUMAN ribosomal protein, large, P2 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome p.S79P(1) lung(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCCCCAGGCTCTGCAGCCCC 0.637000 7 32 0 0 0.361761 0 0 HEATR1 55127 broad.mit.edu 37 1 236737633 236737633 + Splice_Site SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:236737633T>C ENST00000366582.3 - 24 3442 c.3327_splice c.e24-1 p.I1110_splice HEATR1_ENST00000366581.2_Splice_Site_p.I1029_splice NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1110 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.I1110V(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGTTTTGTAATCTAGAGGGGG 0.318000 80 56 0 0 0.870114 0 0 NMUR2 56923 broad.mit.edu 37 5 151784142 151784142 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:151784142G>A ENST00000255262.3 - 1 698 c.533C>T c.(532-534)tCc>tTc p.S178F NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 178 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.S178F(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTTGGGCAGGGAGAAGAGCAC 0.627000 31 77 0 0 0.717897 0 0 ATM 472 broad.mit.edu 37 11 108236087 108236087 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:108236087G>A ENST00000278616.4 + 63 9408 c.9023G>A c.(9022-9024)cGt>cAt p.R3008H C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.R3008H|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3008 R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma).|R -> H (in B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R3008H(6) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTAGCTGAACGTGTCTTAATG 0.413000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 22 71 0 0 0.624587 0 0 TRIM29 23650 broad.mit.edu 37 11 119996453 119996453 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:119996453T>G ENST00000341846.5 - 4 1700 c.1279A>C c.(1279-1281)Atg>Ctg p.M427L TRIM29_ENST00000529044.1_Missense_Mutation_p.M166L|TRIM29_ENST00000541857.1_Missense_Mutation_p.M160L NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 427 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M427L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCCTTGCACATCTTCTCAACG 0.577000 8 44 0 0 0.307466 0 0 C1orf112 55732 broad.mit.edu 37 1 169816858 169816858 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:169816858A>G ENST00000286031.6 + 20 2672 c.1972A>G c.(1972-1974)Aaa>Gaa p.K658E C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.K658E NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 658 p.K658E(1) breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCGCTACTTAAATTAGAGCT 0.353000 13 284 0 0 0.457914 0 0 TIAM1 7074 broad.mit.edu 37 21 32492740 32492740 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr21:32492740A>C ENST00000286827.3 - 29 5193 c.4722T>G c.(4720-4722)atT>atG p.I1574M TIAM1_ENST00000541036.1_Missense_Mutation_p.I1514M NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1574 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.I1574M(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCCTAACCCAAATGACTTCCT 0.562000 11 25 0 0 0.435327 0 0 SLC6A12 6539 broad.mit.edu 37 12 301809 301809 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:301809A>G ENST00000428720.1 - 15 2279 c.1536T>C c.(1534-1536)acT>acC p.T512T SLC6A12_ENST00000424061.2_Silent_p.T512T|SLC6A12_ENST00000397296.2_Silent_p.T512T|SLC6A12_ENST00000536824.1_Silent_p.T512T|SLC6A12_ENST00000359674.4_Silent_p.T512T NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 512 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.T512T(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) AGAAGAGGAAAGTGGCCTGGG 0.567000 18 46 0 0 0.520397 0 0 ADCK3 56997 broad.mit.edu 37 1 227169734 227169734 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:227169734A>C ENST00000366779.1 + 11 3508 c.737A>C c.(736-738)aAg>aCg p.K246T ADCK3_ENST00000366778.1_Missense_Mutation_p.K194T|ADCK3_ENST00000366775.1_Missense_Mutation_p.K91T|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Missense_Mutation_p.K246T|ADCK3_ENST00000366776.1_Missense_Mutation_p.K171T|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000458507.2_5'UTR Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 246 cell death mitochondrion ATP binding|protein serine/threonine kinase activity p.K246T(1) endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 ACAGGGAAGAAGGCCGTGCTG 0.652000 5 49 0 0 0.217242 0 0 CCDC109B 55013 broad.mit.edu 37 4 110606516 110606516 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:110606516T>G ENST00000394650.4 + 7 1059 c.926T>G c.(925-927)cTt>cGt p.L309R NM_017918.4 NP_060388.2 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 309 integral to membrane p.L221R(1)|p.L309R(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) AAAGAAGACCTTGCTAAGGTA 0.378000 12 36 0 0 0.411799 0 0 USP12 219333 broad.mit.edu 37 13 27690659 27690659 + Missense_Mutation SNP T T A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:27690659T>A ENST00000282344.6 - 2 379 c.123A>T c.(121-123)ttA>ttT p.L41F NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 41 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.L41F(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TTACATTGACTAATCCAAAAT 0.343000 15 28 0 0 0.479597 0 0 EPG5 57724 broad.mit.edu 37 18 43462310 43462310 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:43462310T>G ENST00000282041.5 - 31 5481 c.5447A>C c.(5446-5448)aAg>aCg p.K1816T EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1816 autophagy p.K1816T(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AGTCCAGTGCTTACAGAAAAG 0.423000 22 39 0 0 0.639603 0 0 RBAK 57786 broad.mit.edu 37 7 5103663 5103663 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:5103663A>C ENST00000396912.1 + 5 1095 c.576A>C c.(574-576)gaA>gaC p.E192D RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E192D|RBAK_ENST00000407184.1_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 192 Required for interaction with RB1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.E192D(1) NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ACAATGAAGAAAATATTCTTC 0.333000 3 68 0 0 0.115264 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003573 170003573 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:170003573C>T ENST00000367765.1 - 7 2063 c.562G>A c.(562-564)Gat>Aat p.D188N KIFAP3_ENST00000538366.1_Missense_Mutation_p.D150N|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D184N|KIFAP3_ENST00000361580.2_Missense_Mutation_p.D228N NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 228 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding p.D228N(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACTCATGATCAATAATATTC 0.303000 19 82 0 0 0.575678 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157638 65157638 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr15:65157638T>C ENST00000323544.4 + 6 1152 c.1024T>C c.(1024-1026)Tca>Cca p.S342P AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 342 Pro-rich. p.S342P(1) NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGTGCAGGTCTCAGTGAATGG 0.577000 3 32 0 0 0.115264 0 0 COPB1 1315 broad.mit.edu 37 11 14512166 14512166 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:14512166T>G ENST00000249923.3 - 5 851 c.551A>C c.(550-552)gAg>gCg p.E184A COPB1_ENST00000439561.2_Missense_Mutation_p.E184A NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 184 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity p.E184A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TGCATCCTTCTCATTCACCAG 0.308000 3 60 0 0 0.184627 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105420361 105420361 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:105420361A>C ENST00000258494.9 - 22 2818 c.2678T>G c.(2677-2679)tTt>tGt p.F893C C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 893 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding p.F893C(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 AACTCCGCCAAATGGGGCCGC 0.393000 30 89 0 0 0.729181 0 0 ACAD11 84129 broad.mit.edu 37 3 132360968 132360968 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:132360968A>C ENST00000264990.6 - 4 1356 c.385T>G c.(385-387)Ttc>Gtc p.F129V ACAD11_ENST00000355458.3_Missense_Mutation_p.F129V|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.F129V NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 p.F129V(1) breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 AAATCACGGAAGATTCGACCC 0.353000 20 55 0 0 0.654019 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 8 90 --- --- --- --- CCDC108 255101 broad.mit.edu 37 2 219900304 219900305 + In_Frame_Ins INS - - CCT TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:219900304_219900305insCCT ENST00000341552.5 - 5 522_523 c.439_440insAGG c.(439-441)ggc>AGGggc p.146_147insR CCDC108_ENST00000410037.1_In_Frame_Ins_p.81_82insR|CCDC108_ENST00000409865.3_In_Frame_Ins_p.135_136insR|CCDC108_ENST00000324264.6_In_Frame_Ins_p.81_82insR|CCDC108_ENST00000295729.2_In_Frame_Ins_p.81_82insR|CCDC108_ENST00000441968.1_In_Frame_Ins_p.146_147insR|CCDC108_ENST00000453220.1_In_Frame_Ins_p.146_147insR NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 146 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCCTCAGCCACCTCAATGCCC 0.525 40 90 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 3 6 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 4 8 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 3 4 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 6 13 --- --- --- --- AKAP8L 26993 broad.mit.edu 37 19 15491175 15491175 + Frame_Shift_Del DEL G G - TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:15491175delG ENST00000397410.4 - 14 1763 c.1699delC c.(1699-1701)tgfs p.L567fs AKAP8L_ENST00000595465.1_Frame_Shift_Del_p.L506fs|AC005785.2_ENST00000597164.1_RNA NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 567 EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048). cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CCCTCGTCCAGGGCACCGCCC 0.741 2 4 --- --- --- ---