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 VAT1L 57687 broad.mit.edu 37 16 77910292 77910292 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr16:77910292G>A ENST00000302536.2 + 5 901 c.748G>A c.(748-750)Gtt>Att p.V250I VAT1L_ENST00000563850.1_3'UTR NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 250 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TGTGGACATCGTTTTGGATTG 0.473000 9 496 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 6 465 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_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) 24 172 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 73 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35391924 35391924 + Splice_Site SNP C C A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr6:35391924C>A ENST00000311565.4 + 7 975 c.627_splice c.e7+1 p.A209_splice PPARD_ENST00000337400.2_Splice_Site_p.A209_splice|PPARD_ENST00000448077.2_Splice_Site_p.A170_splice|PPARD_ENST00000418635.2_Splice_Site_p.A111_splice|PPARD_ENST00000444397.1_Splice_Site_p.A209_splice|PPARD_ENST00000360694.3_Splice_Site_p.A209_splice|PPARD_ENST00000540939.1_Splice_Site_p.A106_splice NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 209 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) AGCCACACGGCGGTGAGTGTT 0.597000 4 137 0.00909568 0.00920396 1 1 0 WDR78 79819 broad.mit.edu 37 1 67279820 67279820 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:67279820G>A ENST00000371026.3 - 17 2595 c.2540C>T c.(2539-2541)tCa>tTa p.S847L WDR78_ENST00000431318.1_Missense_Mutation_p.S560L NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 847 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GAATTATGCTGATTGGTTTGA 0.279000 20 187 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 116 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 4 13 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 10 1127 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33639826 33639826 + Missense_Mutation SNP A A G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr6:33639826A>G ENST00000374316.5 + 23 3809 c.2749A>G c.(2749-2751)Atc>Gtc p.I917V ITPR3_ENST00000605930.1_Missense_Mutation_p.I917V Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 917 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCGGCGGTCCATCCAGGGCGT 0.637000 24 183 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 7 461 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91517846 91517846 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr15:91517846C>T ENST00000361188.5 - 10 2530 c.1319G>A c.(1318-1320)cGa>cAa p.R440Q PRC1_ENST00000394249.3_Missense_Mutation_p.R440Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.R399Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R440Q O43663 PRC1_HUMAN protein regulator of cytokinesis 1 440 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TTTCTCCAATCGATGCATCTC 0.443000 15 736 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953994 32953994 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr17:32953994G>A ENST00000321639.5 + 3 974 c.646G>A c.(646-648)Ggg>Agg p.G216R NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 216 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCTCAAGCCCGGGGAAGTGCT 0.652000 40 272 0 0 1 0 0 LYSMD3 116068 broad.mit.edu 37 5 89814997 89814997 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr5:89814997G>A ENST00000315948.6 - 3 704 c.560C>T c.(559-561)tCg>tTg p.S187L LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 187 cell wall macromolecule catabolic process integral to membrane breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) TGTTAAGGCCGATACTACCTC 0.413000 59 409 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197189711 197189711 + Missense_Mutation SNP T T C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:197189711T>C ENST00000260983.2 - 6 916 c.734A>G c.(733-735)cAc>cGc p.H245R HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 245 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TACCTCTCGGTGCCAAATTGG 0.512000 66 518 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016226 4016226 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr16:4016226G>A ENST00000294016.3 - 11 4150 c.3612C>T c.(3610-3612)tgC>tgT p.C1204C NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1204 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCTGGATGCGGCACTCCACGC 0.602000 7 450 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813765 123813765 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:123813765G>A ENST00000321252.2 - 1 815 c.781C>T c.(781-783)Cgt>Tgt p.R261C NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCTGACATACGAATGTAGAGA 0.517000 16 419 0 0 1 0 0 RAB38 23682 broad.mit.edu 37 11 87847185 87847185 + Missense_Mutation SNP C C A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:87847185C>A ENST00000243662.6 - 3 689 c.607G>T c.(607-609)Gcc>Tcc p.A203S RP11-164N3.3_ENST00000528458.1_RNA NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family 203 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAGCAGCTGGCAACCTTGGTT 0.483000 5 466 0.184627 0.184627 1 1 0 PCDHA4 0 broad.mit.edu 37 5 140188274 140188274 + Missense_Mutation SNP A A G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr5:140188274A>G ENST00000530339.1 + 1 1502 c.1502A>G c.(1501-1503)gAg>gGg p.E501G PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E501G|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E501G|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGTAGGGGAGCGCGCGCTG 0.662000 7 311 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56420631 56420631 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr12:56420631G>A ENST00000262032.5 + 8 720 c.353G>A c.(352-354)cGg>cAg p.R118Q IKZF4_ENST00000547791.1_Missense_Mutation_p.R73Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R118Q|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000431367.2_Missense_Mutation_p.R16Q Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 118 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCAGATGAGCGGCTCCTGGAA 0.572000 7 178 0 0 1 0 0 TRBV7-1 0 broad.mit.edu 37 7 142032047 142032047 + RNA SNP A A C rs150998656 by1000genomes TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr7:142032047A>C ENST00000547918.2 + 0 42 CCATGGGCACAAGGCTCCTCT 0.562000 4 163 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 49 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992109 144992109 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr8:144992109G>A ENST00000322810.4 - 32 12460 c.12291C>T c.(12289-12291)ccC>ccT p.P4097P PLEC_ENST00000398774.2_Silent_p.P3928P|PLEC_ENST00000357649.2_Silent_p.P3964P|PLEC_ENST00000354958.2_Silent_p.P3938P|PLEC_ENST00000356346.3_Silent_p.P3946P|PLEC_ENST00000436759.2_Silent_p.P3987P|PLEC_ENST00000345136.3_Silent_p.P3960P|PLEC_ENST00000527096.1_Silent_p.P3983P|PLEC_ENST00000354589.3_Silent_p.P3960P NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4097 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGCTGTGCCGGGGCGGATGA 0.627000 12 113 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96412615 96412615 + Missense_Mutation SNP A A C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr12:96412615A>C ENST00000228740.2 - 8 919 c.778T>G c.(778-780)Ttg>Gtg p.L260V LTA4H_ENST00000413268.2_Missense_Mutation_p.L236V|LTA4H_ENST00000552789.1_Missense_Mutation_p.L236V NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 260 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 GGCAGGACCAATAGGTCATAC 0.403000 32 217 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118773097 118773097 + Missense_Mutation SNP T T G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:118773097T>G ENST00000334801.3 - 6 2319 c.1355A>C c.(1354-1356)cAg>cCg p.Q452P BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 452 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGGTGGCTGCTGGGGGGGAGG 0.682000 7 85 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 4 102 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21805150 21805150 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr7:21805150G>A ENST00000328843.6 + 56 9097 c.9066G>A c.(9064-9066)ccG>ccA p.P3022P DNAH11_ENST00000409508.3_Silent_p.P3015P Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3022 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATGCGTGGCCGCAGGAGGCTC 0.532000 Kartagener syndrome 5 287 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871094 170871094 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr6:170871094G>A ENST00000392092.2 + 3 549 c.270G>A c.(268-270)caG>caA p.Q90Q TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 90 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 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) agcagcagcagcagcagcagc 0.622000 4 130 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 625 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29641216 29641216 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr6:29641216C>T ENST00000376883.1 - 6 1023 c.612G>A c.(610-612)atG>atA p.M204I ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I|ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 140 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CCCCAAGATGCATGCGTCTGT 0.547000 5 319 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207345998 207345998 + Missense_Mutation SNP G G A rs146209053 byFrequency TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:207345998G>A ENST00000264377.3 + 3 803 c.475G>A c.(475-477)Ggc>Agc p.G159S ADAM23_ENST00000374415.3_Missense_Mutation_p.G159S|ADAM23_ENST00000374416.1_Missense_Mutation_p.G159S NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 159 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGAAGCCTTCGGCTCCAAATT 0.383000 38 200 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 5 321 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321495 78321495 + Silent SNP C C T rs142096377 TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr17:78321495C>T ENST00000582970.1 + 29 9503 c.9360C>T c.(9358-9360)taC>taT p.Y3120Y RNF213_ENST00000336301.6_Silent_p.Y1193Y|RNF213_ENST00000508628.2_Silent_p.Y3169Y NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACCAGTACTACGTCCACCTCG 0.547000 38 286 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21826294 21826294 + RNA SNP T T A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr17:21826294T>A ENST00000426869.3 + 0 477 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) CATGGTGGCCTCTCTGAACAA 0.572000 14 114 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103001403 103001403 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:103001403G>A ENST00000409599.1 + 8 1110 c.754G>A c.(754-756)Ggg>Agg p.G252R IL18R1_ENST00000233957.1_Missense_Mutation_p.G252R Q13478 IL18R_HUMAN interleukin 18 receptor 1 252 Ig-like C2-type 3. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TTGGATGTTCGGGGAAGAAAA 0.328000 5 400 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17205843 17205843 + Nonsense_Mutation SNP G G T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr21:17205843G>T ENST00000285681.2 + 17 2539 c.2170G>T c.(2170-2172)Gag>Tag p.E724* USP25_ENST00000400183.2_Nonsense_Mutation_p.E724*|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Nonsense_Mutation_p.E724* Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 724 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) GAAATTGAGAGAGTCAGAGAC 0.333000 28 167 1.39806e-14 1.48543e-14 1 1 0 ARMC3 219681 broad.mit.edu 37 10 23297251 23297251 + Nonsense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr10:23297251C>T ENST00000298032.5 + 15 1960 c.1876C>T c.(1876-1878)Cga>Tga p.R626* ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R363*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R626* NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 626 R -> Q (in dbSNP:rs10828395). binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGGTTATGGACGAAGTATTTC 0.279000 8 135 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 19999089 19999089 + Missense_Mutation SNP G G C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr13:19999089G>C ENST00000400230.2 - 19 1508 c.1464C>G c.(1462-1464)aaC>aaG p.N488K TPTE2_ENST00000390680.2_Missense_Mutation_p.N411K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N448K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N448K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N377K|TPTE2_ENST00000382977.4_Missense_Mutation_p.N488K|TPTE2_ENST00000255310.6_Missense_Mutation_p.N411K Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 488 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATTCATACCTGTTATTTTGAA 0.284000 9 84 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1489346 1489346 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr17:1489346C>T ENST00000382147.4 - 10 1178 c.1090G>A c.(1090-1092)Gtt>Att p.V364I SLC43A2_ENST00000412517.3_Splice_Site|SLC43A2_ENST00000571650.1_Splice_Site|SLC43A2_ENST00000301335.4_Splice_Site Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 360 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TAGAGGCCAACTGTGGAGGAA 0.642000 3 13 0 0 1 0 0 SNAPC2 6618 broad.mit.edu 37 19 7986996 7986996 + Missense_Mutation SNP A A G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:7986996A>G ENST00000221573.6 + 4 500 c.449A>G c.(448-450)aAg>aGg p.K150R SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 150 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 GCCCGTGGAAAGCCTTTGCTC 0.657000 59 520 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130923012 130923012 + Silent SNP G G A rs144010117 byFrequency TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr12:130923012G>A ENST00000261655.4 - 9 1666 c.1503C>T c.(1501-1503)ccC>ccT p.P501P RIMBP2_ENST00000536002.1_Silent_p.P409P|RIMBP2_ENST00000535703.1_Silent_p.P409P NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 501 Fibronectin type-III 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGATGGTGGCGGGGGTCACCC 0.662000 11 75 0 0 1 0 0 GPA33 10223 broad.mit.edu 37 1 167023589 167023589 + Silent SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:167023589C>T ENST00000367868.3 - 7 1285 c.942G>A c.(940-942)ccG>ccA p.P314P RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 314 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CGAGGTGGTCCGGGGATTCAC 0.597000 5 290 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120707 38120707 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:38120707C>T ENST00000406386.3 + 7 2399 c.2144C>T c.(2143-2145)aCc>aTc p.T715I RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 715 RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332). actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACAGAACCACCCAACAAGAG 0.577000 6 346 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167870912 167870912 + Nonsense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:167870912G>A ENST00000367848.1 - 5 645 c.148C>T c.(148-150)Cga>Tga p.R50* ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 142 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ATCTTGACTCGGATGTCTAGG 0.463000 59 447 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130478 38130478 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:38130478C>T ENST00000406386.3 + 9 4390 c.4135C>T c.(4135-4137)Cct>Tct p.P1379S RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1379 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCCTTGGAGTCCTGAGAAGAG 0.652000 6 79 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292241 33292241 + Missense_Mutation SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr14:33292241C>T ENST00000280979.4 + 13 5392 c.5222C>T c.(5221-5223)tCt>tTt p.S1741F AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1741 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTTAATGTCTCTTGCACCTCT 0.473000 52 364 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215408265 215408265 + Missense_Mutation SNP A A C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:215408265A>C ENST00000444842.2 + 7 1208 c.1058A>C c.(1057-1059)gAc>gCc p.D353A KCNK2_ENST00000391894.2_Missense_Mutation_p.D338A|KCNK2_ENST00000391895.2_Missense_Mutation_p.D349A NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 353 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGATTTATGACAAGTTCCAG 0.552000 36 216 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135106041 135106041 + Silent SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr10:135106041C>T ENST00000368563.2 - 8 1532 c.1176G>A c.(1174-1176)gaG>gaA p.E392E TUBGCP2_ENST00000417178.2_Silent_p.E262E|TUBGCP2_ENST00000252936.3_Silent_p.E392E|TUBGCP2_ENST00000543663.1_Silent_p.E420E NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 392 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) AGATCCACTTCTCCAGAACCT 0.627000 24 160 0 0 1 0 0 RPP14 11102 broad.mit.edu 37 3 58302276 58302276 + Missense_Mutation SNP A A C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr3:58302276A>C ENST00000445193.2 + 4 608 c.197A>C c.(196-198)tAt>tCt p.Y66S RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Missense_Mutation_p.Y66S|RPP14_ENST00000544156.1_5'UTR|RPP14_ENST00000295959.5_Missense_Mutation_p.Y66S NM_001098783.2 NP_001092253.1 O95059 RPP14_HUMAN ribonuclease P/MRP 14kDa subunit 66 tRNA processing nucleus identical protein binding|ribonuclease P activity|RNA binding large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191) ATCCTAACCTATGAAGAGAAG 0.418000 65 426 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30999101 30999101 + Silent SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr8:30999101C>T ENST00000298139.5 + 25 3372 c.3123C>T c.(3121-3123)tgC>tgT p.C1041C NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1041 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 p.C1041C(1) 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) TGAAGATTTGCGCCCTTACGA 0.403000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 470 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872537 55872537 + Missense_Mutation SNP A A G rs61746549 byFrequency TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:55872537A>G ENST00000313503.1 + 1 19 c.19A>G c.(19-21)Aac>Gac p.N7D NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N7D(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TAGAAGGAATAACACAAATGT 0.438000 HNSCC(53;0.14) 5 621 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640850 179640850 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:179640850G>A ENST00000589042.1 - 28 5965 c.5741C>T c.(5740-5742)gCg>gTg p.A1914V TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V|TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000591111.1_Missense_Mutation_p.A1914V|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN_ENST00000360870.5_Missense_Mutation_p.A1914V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1632 Ig-like 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A1868V(4)|p.A1914V(4) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGATTTTCCGCGGTGACCTT 0.458000 118 677 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71883405 71883405 + Silent SNP G G C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:71883405G>C ENST00000258104.3 + 42 4900 c.4623G>C c.(4621-4623)gtG>gtC p.V1541V DYSF_ENST00000413539.2_Silent_p.V1572V|DYSF_ENST00000409651.1_Silent_p.V1573V|DYSF_ENST00000410041.1_Silent_p.V1559V|DYSF_ENST00000410020.3_Silent_p.V1580V|DYSF_ENST00000409366.1_Silent_p.V1563V|DYSF_ENST00000394120.2_Silent_p.V1542V|DYSF_ENST00000409582.3_Silent_p.V1579V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.V1549V|DYSF_ENST00000429174.2_Silent_p.V1562V|DYSF_ENST00000409762.1_Silent_p.V1558V NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1541 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ATCCATCTGTGATTGGTGAAT 0.517000 10 1143 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9639110 9639110 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:9639110G>A ENST00000593003.1 - 6 1974 c.1497C>T c.(1495-1497)tgC>tgT p.C499C ZNF426_ENST00000535489.1_Silent_p.C537C|ZNF426_ENST00000253115.2_Silent_p.C537C Q9BUY5 ZN426_HUMAN zinc finger protein 426 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 AAGCTTTCCCGCATTGCTGAC 0.408000 5 363 0 0 1 0 0 FOXI2 399823 broad.mit.edu 37 10 129536020 129536020 + Missense_Mutation SNP G G C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr10:129536020G>C ENST00000388920.4 + 1 522 c.483G>C c.(481-483)aaG>aaC p.K161N NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 161 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) ACTGCTTCAAGAAGGTGCCCC 0.662000 15 56 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130531 38130531 + Silent SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:38130531C>T ENST00000406386.3 + 9 4443 c.4188C>T c.(4186-4188)ccC>ccT p.P1396P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1396 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CGCTGCCCCCCAGGACATCAG 0.657000 7 44 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47549168 47549168 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr21:47549168G>A ENST00000357838.4 + 28 2602 c.2520G>A c.(2518-2520)ccG>ccA p.P840P COL6A2_ENST00000397763.1_Silent_p.P840P|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 577 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AAGAGGGGCCGGACGCCACCT 0.677000 40 467 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 7 540 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432939 30432939 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr20:30432939G>A ENST00000375978.3 - 1 481 c.407C>T c.(406-408)gCg>gTg p.A136V NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 136 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CTGGCTGGTCGCCCTGAGGGG 0.706000 11 71 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64502748 64502748 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr12:64502748G>A ENST00000355086.3 + 16 2374 c.1850G>A c.(1849-1851)cGc>cAc p.R617H SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 617 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTCACATCCGCAAACTCCTC 0.463000 6 504 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473188 105473188 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:105473188G>A ENST00000361360.2 + 1 1220 c.1220G>A c.(1219-1221)cGc>cAc p.R407H RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 407 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGCCGCAAGCGCAAGAAGCGG 0.647000 4 142 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58011728 58011728 + Missense_Mutation SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr16:58011728G>A ENST00000290871.5 + 2 210 c.173G>A c.(172-174)cGc>cAc p.R58H TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Missense_Mutation_p.R58H NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 58 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 GCTATGGCCCGCATCATTGAC 0.632000 6 696 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76949326 76949326 + Silent SNP G G T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chrX:76949326G>T ENST00000373344.5 - 6 685 c.471C>A c.(469-471)ctC>ctA p.L157L ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Intron NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 157 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CGCGTTTTTTGAGATTTTCAG 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 11 301 1.55795e-14 1.63488e-14 1 1 0 MUC16 94025 broad.mit.edu 37 19 9047851 9047851 + Silent SNP C C T rs149660691 by1000genomes TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:9047851C>T ENST00000397910.4 - 5 33983 c.33780G>A c.(33778-33780)ccG>ccA p.P11260P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11262 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 TATTTGTAAACGGCTCACCAG 0.478000 6 125 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244155 56244155 + Missense_Mutation SNP T T C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:56244155T>C ENST00000332836.2 - 2 1069 c.1042A>G c.(1042-1044)Aaa>Gaa p.K348E NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 348 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGCCTCTGTTTCACACAAGTA 0.418000 53 449 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958910 53958910 + RNA SNP A A G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:53958910A>G ENST00000454407.1 + 0 1602 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K329K(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCCTACAAATGTAATGAGT 0.413000 8 817 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 4 8 --- --- --- --- SPRR4 163778 broad.mit.edu 37 1 152944390 152944392 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr1:152944390_152944392delGCA ENST00000328051.2 + 2 73_75 c.24_26delGCA c.(22-27)cgg>cg p.RQ8del NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 8 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) agcagcagcggcagcagcagcag 0.552 7 601 --- --- --- --- CH17-132F21.1 0 broad.mit.edu 37 2 90458648 90458648 + Frame_Shift_Del DEL T T - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr2:90458648delT ENST00000603238.1 + 2 324 c.324delT c.(322-324)tgfs p.108fs CTTATTACTGTCAACAGAGTG 0.512 8 3507 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125647339 125647339 + RNA DEL C C - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr3:125647339delC ENST00000485843.1 + 0 484 NR_024251.1 TGTTTCCAGGCCAGGCCAGGA 0.557 7 360 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 9 405 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - - GAT rs63118461 by1000genomes TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr3:195512373_195512374insGAT ENST00000463781.3 - 2 6536_6537 c.6077_6078insATC c.(6076-6078)tac>tATCac p.2026_2027insH MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 798 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S2026_T2027insS(3) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCAGTGGATGCTGAGGA 0.579 5 3 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 11 305 --- --- --- --- ARHGAP10 79658 broad.mit.edu 37 4 148984411 148984411 + Frame_Shift_Del DEL T T - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr4:148984411delT ENST00000336498.3 + 21 2379 c.2140delT c.(2140-2142)ttfs p.F714fs ARHGAP10_ENST00000414545.2_Intron NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 714 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CCCTTTCCCCTTTTCTCCTCC 0.542 36 187 --- --- --- --- FBXW7 0 broad.mit.edu 37 4 153249472 153249473 + Frame_Shift_Ins INS - - AA TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr4:153249472_153249473insAA ENST00000281708.4 - 9 2534_2535 c.1305_1306insTT c.(1303-1308)atgtggfs p.MW435fs FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.MW259fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.MW435fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.MW355fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.MW317fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.MW435fs NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 435 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTAGATCCACTAATGATGATGT 0.416 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 102 665 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 7 21 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 7 633 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24910452 24910453 + Frame_Shift_Del DEL TC TC - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr7:24910452_24910453delTC ENST00000313367.2 - 5 730_731 c.279_280delGA c.(277-282)gaagfs p.EK93fs OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 93 PH. lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 CCATGCAGCTTCTCTCTCTCTA 0.500 7 408 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 8 1385 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 7 182 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)cag>c p.PQ2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 219 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr10:75560463_75560464insC ENST00000604729.1 + 24 5365_5366 c.5068_5069insC c.(5068-5070)cccfs p.P1690fs ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs zinc finger, SWIM-type containing 8 CTTCTCCCGCTCCCCCCCCTAC 0.604 13 512 --- --- --- --- LINC00502 0 broad.mit.edu 37 10 92813180 92813180 + RNA DEL A A - rs111380766 TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr10:92813180delA ENST00000423621.1 + 0 264 TGGGCCTGATAAAAAAAAAGC 0.343 7 84 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 8 686 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 8 325 --- --- --- --- EHF 26298 broad.mit.edu 37 11 34667997 34667997 + Frame_Shift_Del DEL T T - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:34667997delT ENST00000257831.3 + 3 230 c.109delT c.(109-111)ttfs p.F38fs EHF_ENST00000531794.1_Frame_Shift_Del_p.F60fs|EHF_ENST00000530286.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000527935.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000531728.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000533754.1_Frame_Shift_Del_p.F38fs|EHF_ENST00000450654.2_Frame_Shift_Del_p.F38fs|EHF_ENST00000527001.1_3'UTR NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 38 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F38fs*51(1) NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) TTCCAGTGGGTTTTTTGGAGG 0.537 7 669 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118773004 118773004 + Frame_Shift_Del DEL G G - rs147951163 byFrequency TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr11:118773004delG ENST00000334801.3 - 6 2412 c.1448delC c.(1447-1449)cgfs p.P483fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 483 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGCTCCAGCGGGGGGCCCCC 0.642 7 743 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 9 410 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 666 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 8 499 --- --- --- --- ACD 65057 broad.mit.edu 37 16 67693646 67693648 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr16:67693646_67693648delGCA ENST00000219251.8 - 3 873_875 c.542_544delTGC c.(541-546)cag>c p.LQ181del ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 184 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L181delL(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGTCCTGCAGCAGCAGCAG 0.650 7 569 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578213 7578213 + Frame_Shift_Del DEL A A - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr17:7578213delA ENST00000420246.2 - 6 768 c.636delT c.(634-636)ttfs p.F212fs TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 212 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACTATGTCGAAAAGTGTTTC 0.532 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 160 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1003526 1003527 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:1003526_1003527delCA ENST00000234389.3 + 2 843_844 c.824_825delCA c.(823-825)cfs p.P276fs NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 276 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCGGGGCTGCCACCAGGGCTGC 0.748 2 4 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 894 --- --- --- --- FCAR 2204 broad.mit.edu 37 19 55396764 55396765 + Frame_Shift_Ins INS - - A rs144393831 by1000genomes TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr19:55396764_55396765insA ENST00000355524.3 + 3 198_199 c.188_189insA c.(187-189)aaafs p.K63fs FCAR_ENST00000345937.4_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000391724.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.K63fs|FCAR_ENST00000391726.3_Frame_Shift_Ins_p.K51fs|FCAR_ENST00000359272.4_Frame_Shift_Ins_p.K51fs NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 63 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CTGATGATCATAAAAAACTCCA 0.475 35 257 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 7 1612 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 6 9 --- --- --- --- EWSR1 2130 broad.mit.edu 37 22 29694812 29694813 + Frame_Shift_Ins INS - - G TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chr22:29694812_29694813insG ENST00000397938.2 + 14 1826_1827 c.1507_1508insG c.(1507-1509)gggfs p.G503fs EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G508fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G465fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G447fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G502fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G430fs NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 503 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.R503Q(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAGAGGACCCCGGGGTTCCCGA 0.604 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 7 502 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx af1eac7d-1a66-417f-af21-9118d666f77e 79a263d5-26dd-4f6d-b97d-14c14f0bbce5 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 9 494 --- --- --- ---