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 TMEM245 23731 broad.mit.edu 37 9 111822709 111822709 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:111822709C>T ENST00000374586.3 - 11 1678 c.1647G>A c.(1645-1647)aaG>aaA p.K549K NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 549 integral to membrane TATTGTTCACCTTATCTCCTA 0.338000 8 660 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070605 114070605 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:114070605G>A ENST00000462705.1 - 11 922 c.101C>T c.(100-102)aCg>aTg p.T34M ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T107M NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T34M(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GATGCGCACCGTTACGTCACA 0.602000 4 164 0 0 1 0 0 TFPT 29844 broad.mit.edu 37 19 54617951 54617951 + Silent SNP A A G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:54617951A>G ENST00000391759.1 - 2 558 c.153T>C c.(151-153)ggT>ggC p.G51G TFPT_ENST00000391758.1_Silent_p.G42G|TFPT_ENST00000391757.1_Silent_p.G51G NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 51 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) AGCCGCCCAGACCACCTGACA 0.637000 T TCF3 pre-B ALL 14 856 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31409124 31409124 + Silent SNP C C T rs12922480 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:31409124C>T ENST00000389202.2 + 5 370 c.321C>T c.(319-321)ggC>ggT p.G107G NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 107 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGGCCTGTGGCCCGACCCTGC 0.657000 4 177 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168818719 168818719 + Missense_Mutation SNP T T C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:168818719T>C ENST00000464456.1 - 10 3412 c.2212A>G c.(2212-2214)Aac>Gac p.N738D MECOM_ENST00000472280.1_Missense_Mutation_p.N748D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000460814.1_Missense_Mutation_p.N738D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CGTGTTAGGTTTGCAGACCTT 0.368000 7 274 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53852082 53852082 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:53852082G>A ENST00000315251.5 - 9 1944 c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 503 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GCTTTTGCCCGCACAAAGGCA 0.582000 7 502 0 0 1 0 0 SH3BP1 23616 broad.mit.edu 37 22 38041378 38041378 + Missense_Mutation SNP C C A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr22:38041378C>A ENST00000599616.1 + 8 593 c.593C>A c.(592-594)tCc>tAc p.S198Y SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S262Y|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 262 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GCAGACCACTCCCCTTCGATG 0.652000 8 365 0.0581538 0.0590768 1 1 0 LPL 4023 broad.mit.edu 37 8 19811679 19811679 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr8:19811679G>A ENST00000311322.8 + 5 1060 c.590G>A c.(589-591)cGt>cAt p.R197H NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 197 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GCCCCGAGTCGTCTTTCTCCT 0.458000 7 508 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17611112 17611112 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:17611112G>A ENST00000252595.7 + 8 1329 c.1232G>A c.(1231-1233)cGc>cAc p.R411H SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 411 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TTCAACAGCCGCATCCTGCCC 0.612000 6 316 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412407 105412407 + Silent SNP C C A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr14:105412407C>A ENST00000333244.5 - 7 9500 c.9381G>T c.(9379-9381)ggG>ggT p.G3127G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3127 nucleus p.G3127G(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGACAGGTCCCCCTCCAGCC 0.622000 11 1237 2.27111e-07 2.4025e-07 1 1 0 CCDC88C 440193 broad.mit.edu 37 14 91791261 91791261 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr14:91791261C>T ENST00000389857.6 - 12 1290 c.1204G>A c.(1204-1206)Gac>Aac p.D402N NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 402 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTATCTGTGTCCCGGTCCTGG 0.542000 5 257 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141053229 141053229 + Missense_Mutation SNP G G A rs149350776 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr5:141053229G>A ENST00000239440.4 - 5 910 c.845C>T c.(844-846)aCg>aTg p.T282M ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 282 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GCGGTCTGCCGTGAAGGAGAA 0.607000 11 552 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039776 2039776 + Silent SNP A A G rs13296987 byFrequency TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:2039776A>G ENST00000382203.1 + 4 875 c.666A>G c.(664-666)caA>caG p.Q222Q SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 222 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcagcaacagcagcagc 0.637000 4 127 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591901 48591901 + Missense_Mutation SNP A A G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr18:48591901A>G ENST00000342988.3 + 9 1602 c.1064A>G c.(1063-1065)gAc>gGc p.D355G SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 355 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGATACGTGGACCCTTCTGGA 0.428000 18 411 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115109255 115109255 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr11:115109255G>A ENST00000542447.2 - 3 517 c.389C>T c.(388-390)cCc>cTc p.P130L CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000331581.6_Missense_Mutation_p.P130L|CADM1_ENST00000452722.2_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.P130L NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 130 Ig-like V-type. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TTCCTGTGGGGGATCGGTATA 0.448000 12 608 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93518519 93518519 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr7:93518519G>A ENST00000222543.5 - 3 600 c.288C>T c.(286-288)tgC>tgT p.C96C GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 96 BPTI/Kunitz inhibitor 2. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTTGCAGCCGGCAAACTTTGG 0.398000 5 484 0 0 1 0 0 NEURL2 140825 broad.mit.edu 37 20 44517457 44517457 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr20:44517457C>T ENST00000372518.4 - 2 1093 c.798G>A c.(796-798)cgG>cgA p.R266R NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 266 SOCS box. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) CAATGGCCAGCCGGTGCACCA 0.552000 4 242 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:158592861G>A ENST00000368148.3 - 43 6212 c.6032C>T c.(6031-6033)gCc>gTc p.A2011V SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2011 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.A2011V(6) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483000 11 1595 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64528850 64528850 + RNA SNP T T G rs2949472 by1000genomes TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr7:64528850T>G ENST00000426828.1 + 0 638 NR_033416.1 GAATTCTGGCTTTTTTTACAA 0.284000 6 85 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54176304 54176304 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:54176304G>A ENST00000404125.1 - 2 414 c.359C>T c.(358-360)gCc>gTc p.A120V PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 120 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CAAAAGGCGGGCAAATCCCTG 0.358000 5 401 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176687011 176687011 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr5:176687011G>A ENST00000439151.2 + 14 5033 c.4988G>A c.(4987-4989)cGc>cAc p.R1663H NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1663 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CGCTGTGTCCGCTGTCCTGTG 0.418000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 6 590 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 31004955 31004955 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr8:31004955G>A ENST00000298139.5 + 30 3784 c.3535G>A c.(3535-3537)Gca>Aca p.A1179T NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1179 HRDC. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AGCTATTCTGGCAACAAACAA 0.338000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 416 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 355 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65882284 65882284 + Silent SNP T T C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:65882284T>C ENST00000321892.4 + 6 2155 c.2094T>C c.(2092-2094)gcT>gcC p.A698A BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000424123.3_Silent_p.A559A|BPTF_ENST00000306378.6_Intron Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 698 Interaction with KEAP1. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACACTAGTGCTACCACTACCT 0.383000 16 493 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42041764 42041764 + Nonsense_Mutation SNP G G T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:42041764G>T ENST00000219905.7 + 17 6140 c.5959G>T c.(5959-5961)Gag>Tag p.E1987* MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E1987*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1948 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AATAAAAAGAGAGCAAGAAAC 0.428000 5 266 0.184627 0.186081 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 8 497 0 0 1 0 0 CCDC47 57003 broad.mit.edu 37 17 61833870 61833870 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:61833870G>A ENST00000225726.5 - 7 1178 c.796C>T c.(796-798)Cgg>Tgg p.R266W CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W|CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 266 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 AAGGCTTTCCGTGTGCCAACA 0.378000 5 436 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651305 84651305 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:84651305C>T ENST00000286744.5 + 21 3149 c.2925C>T c.(2923-2925)ccC>ccT p.P975P ADAMTSL3_ENST00000567476.1_Silent_p.P975P NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 975 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGCTGCCCCCGACATCGGCG 0.567000 12 394 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7591452 7591452 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:7591452G>A ENST00000264079.6 + 3 490 c.365G>A c.(364-366)cGg>cAg p.R122Q NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 122 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity p.R122L(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCCTACACGCGGGAGCAGCTG 0.652000 9 317 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27220639 27220639 + Missense_Mutation SNP C C A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:27220639C>A ENST00000230582.3 + 9 1076 c.1061C>A c.(1060-1062)aCa>aAa p.T354K PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K|PRSS16_ENST00000377456.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 354 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CGAGCAGAGACAGTGGCACAG 0.498000 10 469 7.48243e-07 7.85042e-07 1 1 0 ZNF391 346157 broad.mit.edu 37 6 27369145 27369145 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:27369145G>A ENST00000244576.4 + 3 1541 c.996G>A c.(994-996)ccG>ccA p.P332P NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 GGGAGAAGCCGTACAAATGTA 0.423000 5 341 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100492764 100492764 + Splice_Site SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chrX:100492764G>A ENST00000395209.3 + 5 965 c.438_splice c.e5+1 p.A146_splice DRP2_ENST00000538510.1_Splice_Site_p.A146_splice|DRP2_ENST00000541709.1_Splice_Site_p.A68_splice|DRP2_ENST00000402866.1_Splice_Site_p.A146_splice NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 146 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 AGACACATGCGGTAGGTTAGA 0.547000 4 177 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42226197 42226197 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:42226197G>A ENST00000319977.4 + 3 1263 c.1026G>A c.(1024-1026)ccG>ccA p.P342P C17orf53_ENST00000245382.6_Silent_p.P342P|C17orf53_ENST00000585683.1_Silent_p.P342P NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 342 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CCTTACAACCGCAAGCTCCAG 0.532000 8 1154 0 0 1 0 0 NCAPG 64151 broad.mit.edu 37 4 17844989 17844989 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr4:17844989G>A ENST00000251496.2 + 21 3165 c.2989G>A c.(2989-2991)Gca>Aca p.A997T LCORL_ENST00000326877.3_3'UTR NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 997 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AGCCAAAACCGCAGCACTAGA 0.368000 7 626 0 0 1 0 0 ACOT4 122970 broad.mit.edu 37 14 74058829 74058829 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr14:74058829G>A ENST00000326303.4 + 1 420 c.166G>A c.(166-168)Gcc>Acc p.A56T NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 56 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) CTGCGCCGACGCCCGCGGCGA 0.771000 3 25 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052268 132052268 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr8:132052268G>A ENST00000286355.5 - 1 2404 c.312C>T c.(310-312)tgC>tgT p.C104C ADCY8_ENST00000377928.3_Silent_p.C104C NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 104 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTTTGGTGCCGCAGGTGCTGT 0.731000 HNSCC(32;0.087) 3 22 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144465945 144465945 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr4:144465945C>T ENST00000283131.3 + 17 2690 c.2228C>T c.(2227-2229)gCc>gTc p.A743V NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 743 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) GCCAACTATGCCGTTGATGCA 0.378000 5 425 0 0 1 0 0 AANAT 15 broad.mit.edu 37 17 74464914 74464914 + Missense_Mutation SNP G G A rs141006262 byFrequency TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:74464914G>A ENST00000250615.3 + 5 1228 c.221G>A c.(220-222)cGc>cAc p.R74H AANAT_ENST00000392492.3_Missense_Mutation_p.R29H NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 29 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 TGTCAGCGGCGCCACACACTC 0.662000 4 161 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37474607 37474607 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:37474607C>T ENST00000002125.4 + 9 985 c.945C>T c.(943-945)tgC>tgT p.C315C NDUFAF7_ENST00000336237.6_Silent_p.C217C NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 AGGGGTTTTGCGACCACAAGC 0.343000 5 439 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28826861 28826861 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:28826861C>T ENST00000422425.2 + 39 2814 c.2770C>T c.(2770-2772)Cgg>Tgg p.R924W PLB1_ENST00000327757.5_Missense_Mutation_p.R935W|PLB1_ENST00000541605.1_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 935 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCTGACCCTGCGGGAGAACTC 0.607000 4 217 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27105586 27105586 + Nonsense_Mutation SNP G G T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:27105586G>T ENST00000324856.7 + 20 5568 c.5197G>T c.(5197-5199)Gag>Tag p.E1733* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1733 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.E1733*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CATTTTAAAGGAGTATGAGGT 0.478000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 18 872 8.28177e-16 8.83389e-16 1 1 0 CDH11 1009 broad.mit.edu 37 16 64981668 64981668 + Silent SNP G G A rs145843219 byFrequency TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:64981668G>A ENST00000268603.4 - 13 2844 c.2229C>T c.(2227-2229)taC>taT p.Y743Y CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.Y617Y NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 743 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTTCATAACCGTAGATTTGAA 0.537000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 444 0 0 1 0 0 FAM63A 55793 broad.mit.edu 37 1 150971955 150971955 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:150971955C>T ENST00000361936.5 - 8 1825 c.871G>A c.(871-873)Gcg>Acg p.A291T FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T|FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 291 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGCTGGGCCGCGGTGGTCTCC 0.547000 16 664 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38907438 38907438 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:38907438C>T ENST00000312150.4 - 4 870 c.810G>A c.(808-810)gcG>gcA p.A270A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 270 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) ACCAGGCCTCCGCGTCCCTGC 0.532000 5 291 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42157539 42157539 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:42157539G>A ENST00000225983.6 - 23 3206 c.2883C>T c.(2881-2883)tcC>tcT p.S961S HDAC5_ENST00000336057.5_Silent_p.S875S|HDAC5_ENST00000586802.1_Silent_p.S960S|HDAC5_ENST00000393622.2_Silent_p.S960S Q9UQL6 HDAC5_HUMAN histone deacetylase 5 960 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CAAACCCGGCGGAGACTAGGA 0.577000 4 198 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40827887 40827887 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr20:40827887G>A ENST00000373198.3 - 17 2785 c.2550C>T c.(2548-2550)aaC>aaT p.N850N PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373187.1_Silent_p.N828N|PTPRT_ENST00000373201.1_Silent_p.N818N|PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373193.3_Silent_p.N831N|PTPRT_ENST00000373190.1_Silent_p.N828N NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 828 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TACTGAATCCGTTGACGTCCT 0.562000 45 2196 0 0 1 0 0 ZNF366 0 broad.mit.edu 37 5 71756620 71756620 + Missense_Mutation SNP T T C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr5:71756620T>C ENST00000318442.5 - 2 1194 c.704A>G c.(703-705)aAc>aGc p.N235S NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GATCTGCACGTTCACGTCCAC 0.632000 11 503 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231090100 231090100 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:231090100C>T ENST00000366661.4 - 4 499 c.492G>A c.(490-492)cgG>cgA p.R164R TTC13_ENST00000414259.1_Silent_p.R164R|TTC13_ENST00000366662.4_Silent_p.R164R NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 164 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TTGAAAAATGCCGTATTGCTT 0.308000 4 232 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65021069 65021069 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:65021069G>A ENST00000262138.3 + 3 400 c.398G>A c.(397-399)cGc>cAc p.R133H NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 133 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) ATCTACAGCCGCAAGAACAAC 0.672000 5 328 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644684 20644684 + RNA SNP G G C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:20644684G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 3 51 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554675 85554675 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:85554675C>T ENST00000377386.3 - 2 642 c.180G>A c.(178-180)ccG>ccA p.P60P TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409232.3_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P O43493 TGON2_HUMAN trans-golgi network protein 2 60 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TTGGAGTCTGCGGCTCCGGAT 0.597000 7 891 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935121 4935121 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:4935121G>A ENST00000345988.2 - 22 3624 c.3535C>T c.(3535-3537)Cgg>Tgg p.R1179W PPL_ENST00000590782.2_Missense_Mutation_p.R1177W NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1179 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GGGTCTGGCCGCACGATCTCC 0.627000 5 400 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36491506 36491506 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:36491506G>A ENST00000342292.4 - 6 1394 c.1374C>T c.(1372-1374)atC>atT p.I458I NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 458 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGCCGTAGACGATGGCAAAAC 0.547000 4 229 0 0 1 0 0 TMEM30A 55754 broad.mit.edu 37 6 75974982 75974982 + Missense_Mutation SNP C C G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:75974982C>G ENST00000230461.6 - 3 747 c.418G>C c.(418-420)Gat>Cat p.D140H TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H|TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 140 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGTTGACTATCATCTCGAGAT 0.313000 4 204 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38324149 38324149 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:38324149G>A ENST00000264645.7 + 10 1924 c.1698G>A c.(1696-1698)ccG>ccA p.P566P NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 566 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 GCCCTGCCCCGCTGCCTCCAC 0.502000 6 630 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6383543 6383543 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr4:6383543G>A ENST00000335585.5 - 1 54 c.31C>T c.(31-33)Ccc>Tcc p.P11S PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000382599.4_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000515571.1_Intron|PPP2R2C_ENST00000314348.8_Intron NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 0 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TCCTGGATGGGCAAGTGTTTG 0.527000 7 487 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99454671 99454671 + Splice_Site SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:99454671G>A ENST00000268035.6 + 7 2200 c.e7+1 IGF1R_ENST00000558762.1_Splice_Site NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACAAGGAAGCGTGAGTTTCTG 0.537000 9 344 0 0 1 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127654 32127654 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr21:32127654C>T ENST00000335093.3 - 1 92 c.43G>A c.(43-45)Ggc>Agc p.G15S NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 15 G -> S (in a breast cancer sample; somatic mutation). intermediate filament p.G15S(1) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 cagccacagccggagccatag 0.537000 15 723 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165353909 165353909 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:165353909G>A ENST00000263915.3 - 10 1734 c.1196C>T c.(1195-1197)gCg>gTg p.A399V GRB14_ENST00000543549.1_Missense_Mutation_p.A312V NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 399 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 TTCTTCAACCGCAACTGAAAG 0.393000 6 559 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 7 318 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G G A rs143796899 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr10:111630550G>A ENST00000502935.1 - 18 1754 c.1635C>T c.(1633-1635)tgC>tgT p.C545C XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C|XPNPEP1_ENST00000322238.8_Silent_p.C521C Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.C502C(2)|p.C545C(2) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498000 6 549 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:151238835G>A ENST00000368884.3 + 8 895 c.815G>A c.(814-816)cGc>cAc p.R272H PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 272 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAGTTTGGCCGCACTGGGCTT 0.547000 5 433 0 0 1 0 0 DCK 1633 broad.mit.edu 37 4 71888175 71888175 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr4:71888175C>T ENST00000286648.5 + 3 696 c.299C>T c.(298-300)gCc>gTc p.A100V DCK_ENST00000504952.1_Missense_Mutation_p.A100V|DCK_ENST00000504730.1_Missense_Mutation_p.A100V NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 100 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) CAAACATATGCCTGTCTCAGT 0.393000 5 491 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72248384 72248384 + Silent SNP C C T rs139944691 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:72248384C>T ENST00000441391.2 + 5 1377 c.165C>T c.(163-165)gaC>gaT p.D55D TTYH2_ENST00000529107.1_Silent_p.D355D|TTYH2_ENST00000269346.4_Silent_p.D376D NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 376 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 ATTATCTGGACGCTCTTGCTG 0.622000 5 436 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118677965 118677965 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:118677965C>T ENST00000376300.2 - 24 1987 c.1850G>A c.(1849-1851)cGc>cAc p.R617H CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H|HTR5BP_ENST00000434708.1_RNA NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 617 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 CTCGTTCTTGCGGCCCTCCTG 0.502000 4 245 0 0 1 0 0 MMP21 118856 broad.mit.edu 37 10 127461268 127461268 + Missense_Mutation SNP G G A rs146859109 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr10:127461268G>A ENST00000368808.3 - 3 748 c.749C>T c.(748-750)gCa>gTa p.A250V NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 250 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CCAGGCGTGTGCAAACTCCTG 0.647000 4 210 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 175 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 7 595 0 0 1 0 0 TRAV12-1 0 broad.mit.edu 37 14 22309830 22309830 + RNA SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr14:22309830G>A ENST00000390433.1 + 0 214 GCTGATGTCCGTATACTCCAG 0.458000 4 352 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26582314 26582314 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:26582314G>A ENST00000252992.4 + 4 992 c.861G>A c.(859-861)cgG>cgA p.R287R CEP85_ENST00000451429.2_Silent_p.R236R NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 287 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 GCACTTGTCGGCAGCAGCTGG 0.502000 5 409 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941129 22941129 + Missense_Mutation SNP T T G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:22941129T>G ENST00000397104.3 - 5 1308 c.1309A>C c.(1309-1311)Aag>Cag p.K437Q ZNF99_ENST00000596209.1_Missense_Mutation_p.K528Q zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.333000 5 395 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr22:42523567T>C ENST00000360608.5 - 7 1169 c.1055A>G c.(1054-1056)cAc>cGc p.H352R NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592000 6 210 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323274 15323274 + RNA SNP C C A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr18:15323274C>A ENST00000455308.2 - 0 574 NR_027417.1 TTATCAACTGCAATTGCATTT 0.308000 4 156 0.000602214 0.000616668 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 119 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53852140 53852140 + Silent SNP C C A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:53852140C>A ENST00000315251.5 - 9 1886 c.1449G>T c.(1447-1449)ggG>ggT p.G483G NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 483 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GGAGCTCTTTCCCTCGGAACG 0.517000 6 312 0.217242 0.217242 1 1 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 5 428 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60720749 60720749 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:60720749G>A ENST00000261520.4 - 15 2933 c.2699C>T c.(2698-2700)tCc>tTc p.S900F NARG2_ENST00000439632.1_Missense_Mutation_p.S763F NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 900 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TGAGAGACTGGAAGGTACACC 0.423000 7 279 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 6 581 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917857 2917857 + Missense_Mutation SNP C C T rs148390269 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:2917857C>T ENST00000306908.5 + 4 1386 c.1238C>T c.(1237-1239)aCg>aTg p.T413M AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CATTTGAGGACGCACACTGGA 0.438000 6 477 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138969039 138969039 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr7:138969039C>T ENST00000288561.8 + 15 3388 c.3139C>T c.(3139-3141)Ccc>Tcc p.P1047S UBN2_ENST00000473989.2_Missense_Mutation_p.P1130S NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1130 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GAATTTATTGCCCTCTAGTCG 0.493000 4 248 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233152748 233152748 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:233152748C>T ENST00000258229.8 - 27 4992 c.4758G>A c.(4756-4758)ccG>ccA p.P1586P PCNXL2_ENST00000344698.2_Silent_p.P238P NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1586 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCTGGAGACACGGGACGTAGT 0.478000 10 400 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650651 127650651 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:127650651G>A ENST00000373555.4 - 19 2119 c.1786C>T c.(1786-1788)Cct>Tct p.P596S NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 596 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TGGAACACAGGGTCCTGCATG 0.557000 17 611 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44435568 44435568 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr18:44435568G>A ENST00000585916.1 - 4 594 c.595C>T c.(595-597)Cca>Tca p.P199S PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 199 PINIT. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 CTACCACCTGGCAAAAAATCC 0.363000 4 226 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195966549 195966549 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:195966549C>T ENST00000292823.2 - 9 938 c.766G>A c.(766-768)Gtg>Atg p.V256M PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 256 3 X 11 AA approximate tandem repeats.|Amphipathic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TTTTCCTCCACATCTTTCACT 0.383000 5 432 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285280 152285280 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:152285280C>T ENST00000368799.1 - 3 2117 c.2082G>A c.(2080-2082)gcG>gcA p.A694A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 694 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGGATGACGCAGCCTGTC 0.562000 Ichthyosis 62 2563 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104048365 104048365 + Silent SNP C C A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr12:104048365C>A ENST00000388887.2 + 13 1644 c.1440C>A c.(1438-1440)ggC>ggA p.G480G NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 480 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCCATGGAGGCAAAAAGAAGG 0.398000 5 291 8.12818e-05 8.4586e-05 1 1 0 FAM107A 11170 broad.mit.edu 37 3 58555477 58555477 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:58555477G>A ENST00000394481.1 - 3 669 c.111C>T c.(109-111)ccC>ccT p.P37P FAM107A_ENST00000360997.2_Silent_p.P37P|FAM107A_ENST00000464064.1_Silent_p.P37P|FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000447756.2_Silent_p.P65P NM_007177.2 NP_009108.1 O95990 F107A_HUMAN family with sequence similarity 107, member A 37 regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) AGGCCTTCACGGGGTTCAGCA 0.622000 8 302 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T T G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:6012658T>G ENST00000259569.5 - 1 2960 c.2950A>C c.(2950-2952)Ata>Cta p.I984L NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 984 protein transport cytoplasm|nucleus binding p.I984L(4) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363000 7 453 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr7:56085002C>T ENST00000395471.3 - 6 1151 c.346G>A c.(346-348)Gta>Ata p.V116I PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.V116I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACATGCTCTACAATACTCCTA 0.393000 5 298 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940171 113940171 + Silent SNP C C T rs139939908 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:113940171C>T ENST00000245796.6 + 2 333 c.138C>T c.(136-138)ttC>ttT p.F46F PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.F46F NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 46 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGGAGCCTTTCGAGGAGCAAA 0.602000 6 245 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153800794 153800794 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:153800794G>A ENST00000368655.4 - 2 273 c.30C>T c.(28-30)cgC>cgT p.R10R NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 10 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACAGATTCAAGCGAAGAGCAT 0.433000 37 512 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 5 189 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8172434 8172434 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:8172434G>A ENST00000314666.6 + 28 4002 c.3869G>A c.(3868-3870)cGc>cAc p.R1290H PFAS_ENST00000545834.1_Missense_Mutation_p.R866H NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1290 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGTGATGGCCGCCACCTGGCT 0.642000 5 314 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795239 30795239 + Silent SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr7:30795239G>A ENST00000013222.5 + 3 580 c.564G>A c.(562-564)aaG>aaA p.K188K INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Silent_p.K187K NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 188 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CACTGCTCAAGCCGGGTGGCC 0.627000 13 345 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21375026 21375026 + Missense_Mutation SNP A A G TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr13:21375026A>G ENST00000400602.2 - 14 1956 c.1921T>C c.(1921-1923)Ttt>Ctt p.F641L XPO4_ENST00000255305.6_Missense_Mutation_p.F641L NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 641 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CGTTTTAAAAACCAAACAATA 0.378000 10 709 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 889786 889786 + Missense_Mutation SNP T T A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr5:889786T>A ENST00000323510.4 - 1 28 c.29A>T c.(28-30)aAt>aTt p.N10I BRD9_ENST00000435709.2_Missense_Mutation_p.N10I|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000388890.4_Missense_Mutation_p.N10I Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GAAAAAAAAATTGAATACAAG 0.448000 5 291 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 7 422 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998523 27998523 + Missense_Mutation SNP A A C TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chrX:27998523A>C ENST00000441525.1 - 1 1043 c.929T>G c.(928-930)gTt>gGt p.V310G NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 310 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GGTGAACACAACGGCATCTTC 0.478000 5 222 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650555 127650555 + Nonsense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:127650555G>A ENST00000373555.4 - 19 2215 c.1882C>T c.(1882-1884)Cag>Tag p.Q628* NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 628 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 AGAAGTTGCTGCTCCAAGTCC 0.517000 24 1344 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158049518 158049518 + Splice_Site SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:158049518C>T ENST00000359775.5 + 4 1592 c.703_splice c.e4+1 p.R235_splice ZDHHC14_ENST00000414563.2_Splice_Site_p.R235_splice|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 235 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CGTCATTCTTCGTAAGTATGC 0.328000 39 1917 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127413957 127413957 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:127413957G>A ENST00000434178.2 - 7 1543 c.647C>T c.(646-648)gCc>gTc p.A216V MGLL_ENST00000265052.5_Missense_Mutation_p.A226V|MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000476682.1_5'UTR Q99685 MGLL_HUMAN monoglyceride lipase 216 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 CCGTGAGACGGCATTCAGCAG 0.612000 5 262 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89868837 89868837 + Splice_Site SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr11:89868837C>T ENST00000534061.1 + 2 423 c.194_splice c.e2+1 p.R65_splice NAALAD2_ENST00000525171.1_Splice_Site_p.R65_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.R65_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.R65_splice NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 65 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATCATTTCTTCGGTAAGTTTA 0.348000 4 208 0 0 1 0 0 GJC2 57165 broad.mit.edu 37 1 228345913 228345915 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr1:228345913_228345915delGAG ENST00000366714.2 + 2 629_631 c.454_456delGAG c.(454-456)del p.E158del NM_020435.3 NP_065168.2 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 158 Glu-rich. cell death connexon complex|integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Prostate(94;0.0405) GGGCCTGGGCgaggaggaggagg 0.788 5 9 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 8 14 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 12 448 --- --- --- --- DLX2 1746 broad.mit.edu 37 2 172967128 172967129 + In_Frame_Ins INS - - GCT TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr2:172967128_172967129insGCT ENST00000234198.4 - 1 499_500 c.138_139insAGC c.(136-141)agtcca>agAGCtcca p.46_46S>RA DLX2_ENST00000466293.2_In_Frame_Ins_p.46_46S>RA NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 46 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGCTTGTGGAGgctgctgctgc 0.738 10 22 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 9 1540 --- --- --- --- ACAD11 84129 broad.mit.edu 37 3 132297650 132297650 + Frame_Shift_Del DEL A A - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:132297650delA ENST00000264990.6 - 15 2735 c.1764delT c.(1762-1764)ttfs p.F588fs ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Frame_Shift_Del_p.F113fs NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 CTGTGTAGCCAAAAACTGACA 0.363 7 711 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 9 1291 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 10 377 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123165028 123165029 + Frame_Shift_Ins INS - - A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr4:123165028_123165029insA ENST00000264501.4 + 31 5135_5136 c.4762_4763insA c.(4762-4764)aaafs p.K1588fs KIAA1109_ENST00000388738.3_Frame_Shift_Ins_p.K1588fs|KIAA1109_ENST00000455637.1_Frame_Shift_Ins_p.K1588fs Q2LD37 K1109_HUMAN KIAA1109 1588 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TACTCCATTGGAAAAAAAACTC 0.381 8 416 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156535948 156535950 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr5:156535948_156535950delAGC ENST00000307851.4 - 1 775_777 c.45_47delGCT c.(43-48)cta>ct p.LL17del HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 17 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAAGTAGTAGCAGCAGCAGCA 0.438 9 204 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374580 180374580 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr5:180374580delT ENST00000231229.4 + 4 976 c.742delT c.(742-744)ttfs p.F249fs BTNL8_ENST00000508408.1_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000511704.1_Frame_Shift_Del_p.F133fs|BTNL8_ENST00000340184.4_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000533815.2_Frame_Shift_Del_p.F65fs|BTNL8_ENST00000505126.1_Frame_Shift_Del_p.F42fs|BTNL8_ENST00000400707.3_Frame_Shift_Del_p.F124fs NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 249 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGTGGCCTATTTTTTGGCAT 0.448 10 1922 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 9 889 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr6:168317900delT ENST00000366806.2 + 19 2818 c.2676delT c.(2674-2676)ccfs p.P892fs MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL 7 840 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 7 68 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr8:27888776delT ENST00000413272.2 - 15 2034 c.1892delA c.(1891-1893)atfs p.N631fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GATCAGGAAATTTTTTTTGCA 0.453 7 755 --- --- --- --- KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:2837296delT ENST00000397885.2 - 3 394 c.188delA c.(187-189)agfs p.K63fs NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388 8 1346 --- --- --- --- ZBTB26 57684 broad.mit.edu 37 9 125681075 125681075 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:125681075delT ENST00000373656.3 - 2 1212 c.1139delA c.(1138-1140)acfs p.N380fs ZBTB26_ENST00000373654.1_Frame_Shift_Del_p.N380fs NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 ATCAAAGCTGTTTTTGCCATG 0.393 8 667 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr9:135941982delG ENST00000372080.4 + 5 629 c.613delG c.(613-615)ggfs p.G206fs CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 203 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 7 760 --- --- --- --- TTC18 118491 broad.mit.edu 37 10 75101177 75101179 + In_Frame_Del DEL CTT CTT - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr10:75101177_75101179delCTT ENST00000401621.2 - 7 890_892 c.770_772delAAG c.(769-774)gga>g p.EG257del TTC18_ENST00000394865.1_In_Frame_Del_p.EG257del|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_In_Frame_Del_p.EG257del Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 257 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTGAGTTCTCCTTCTTCTTCTTC 0.414 7 954 --- --- --- --- SEC23IP 11196 broad.mit.edu 37 10 121691801 121691803 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr10:121691801_121691803delAAG ENST00000369075.3 + 16 2801_2803 c.2729_2731delAAG c.(2728-2733)aaa>a p.KE910del SEC23IP_ENST00000543134.1_In_Frame_Del_p.KE699del|SEC23IP_ENST00000475542.1_3'UTR NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 910 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AATCAGATCAAAGAAGAAGAAGA 0.355 7 350 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 7 965 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 10 689 --- --- --- --- RP11-81H3.2 0 broad.mit.edu 37 12 74669120 74669120 + RNA DEL T T - rs35644413 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr12:74669120delT ENST00000515416.2 - 0 464 RP11-274M17.3_ENST00000552046.1_RNA TTTTTTGGGGTTTTTTTTTTT 0.308 5 9 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 7 277 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25453558 25453560 + RNA DEL CTT CTT - rs71418028 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:25453558_25453560delCTT ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CTTTGAGTGACTTCTTCTGCCCA 0.631 7 13 --- --- --- --- RP11-387D10.2 0 broad.mit.edu 37 15 91190495 91190497 + RNA DEL CCT CCT - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr15:91190495_91190497delCCT ENST00000559531.1 - 0 294 cctccacacccctcctcctcaat 0.611 5 10 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 11 60 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 8 435 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64294574 64294575 + RNA INS - - A rs111520540 TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr16:64294574_64294575insA ENST00000561657.1 - 0 584 CACACACCGTTAAAAAAAAAAC 0.490 9 120 --- --- --- --- NDEL1 81565 broad.mit.edu 37 17 8370271 8370273 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:8370271_8370273delCTC ENST00000334527.7 + 9 1165_1167 c.968_970delCTC c.(967-972)gct>g p.AP323del NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_3'UTR NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 323 Interaction with CENPF.|Interaction with NEFL (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 TTTGACCCCGCTCCTCCTCCTCC 0.576 7 432 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:8397095_8397097delCCT ENST00000360416.3 - 32 4301_4303 c.4163_4165delAGG c.(4162-4167)gcc>g p.EA1388del MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1357 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTCTTCCTGGCCTCCTCCTCCTC 0.596 7 292 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R535fs*28(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATGCTTGACCTTTTTTTTTCC 0.323 12 288 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 7 938 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113740 26113740 + RNA DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr20:26113740delT ENST00000416563.1 - 0 160 CCAGAAAAAATATGTGAGAGA 0.343 5 1 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58444990 58444990 + Frame_Shift_Del DEL T T - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr20:58444990delT ENST00000357552.3 - 36 3829 c.3604delA c.(3604-3606)tafs p.I1202fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.I1202fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1202 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AGAGAACTTATTTTTTTTCTA 0.313 7 501 --- --- --- --- AP000290.7 0 broad.mit.edu 37 21 34529698 34529700 + RNA DEL CCT CCT - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr21:34529698_34529700delCCT ENST00000450830.1 + 0 114 GCTTCCCTTCcctcctcctcctc 0.502 2 4 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr22:20918793_20918795delCAG ENST00000263205.7 + 6 577_579 c.508_510delCAG c.(508-510)del p.Q174del MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 174 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagttccagcagcagcagc 0.616 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 221 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 156 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e3e5ca3-d426-4682-8adb-df087f6160b1 6fff66d6-67fc-467d-8309-76463aaea166 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 8 249 --- --- --- ---