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 UPP2 151531 broad.mit.edu 37 2 158971631 158971631 + Missense_Mutation SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:158971631A>G ENST00000605860.1 + 6 416 c.370A>G c.(370-372)Agc>Ggc p.S124G UPP2_ENST00000409859.4_Missense_Mutation_p.S124G|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.S67G O95045 UPP2_HUMAN uridine phosphorylase 2 67 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 TGTCGGTGGGAGCCCCAACAG 0.428000 31 330 0 0 0.139131 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 15 56 0 0 0.064281 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 446 0 0 0.058154 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 9 1013 0 0 0.069234 0 0 IL16 3603 broad.mit.edu 37 15 81592482 81592482 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:81592482G>A ENST00000394660.2 + 14 3175 c.2815G>A c.(2815-2817)Gac>Aac p.D939N IL16_ENST00000394652.2_Missense_Mutation_p.D238N|IL16_ENST00000302987.4_Missense_Mutation_p.D939N NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 939 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CCCTGGCCCGGACCCGCTCCT 0.657000 6 296 0 0 0.021553 0 0 WDFY1 57590 broad.mit.edu 37 2 224758990 224758990 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:224758990G>A ENST00000233055.4 - 8 894 c.792C>T c.(790-792)ggC>ggT p.G264G NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 264 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) CTGCAATTCCGCCGTCCGAGG 0.557000 8 302 0 0 0.047766 0 0 MUC20 200958 broad.mit.edu 37 3 195453332 195453332 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:195453332G>A ENST00000320736.6 + 3 1471 c.1345G>A c.(1345-1347)Ggg>Agg p.G449R MUC20_ENST00000447234.2_Missense_Mutation_p.G620R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 620 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CAGCAGCCGAGGGACGAACAG 0.612000 7 624 0 0 0.093190 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 9 217 0 0 0.119110 0 0 BAI1 575 broad.mit.edu 37 8 143603440 143603440 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:143603440C>T ENST00000517894.1 + 21 4033 c.3139C>T c.(3139-3141)Cgc>Tgc p.R1047C BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1047 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTCCGGAACCGCCTCATCCG 0.657000 11 203 0 0 0.093190 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) 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) GAACATCCTGTGCCCAGCGGG 0.592000 10 805 0 0 0.038147 0 0 ARAP1 116985 broad.mit.edu 37 11 72422096 72422096 + Nonsense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:72422096G>A ENST00000359373.5 - 9 2034 c.1183C>T c.(1183-1185)Cga>Tga p.R395* ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R395*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395* Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 395 PH 1. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GCAAAGGTTCGGTTGTTTGTG 0.547000 31 626 0 0 0.153744 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22662971 22662971 + RNA SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:22662971A>G ENST00000426066.1 + 0 500 NR_027293.1 TGTAAGTAAAATTCACTTTGG 0.323000 3 31 0 0 0.150653 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 193 0 0 0.021553 0 0 GRIN2A 0 broad.mit.edu 37 16 9862737 9862737 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:9862737G>A ENST00000396573.2 - 13 2875 c.2566C>T c.(2566-2568)Cgg>Tgg p.R856W GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 856 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AACCCAGGCCGGTCGGAGCAC 0.567000 17 813 0 0 0.175082 0 0 POU2F1 5451 broad.mit.edu 37 1 167385027 167385027 + Missense_Mutation SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:167385027A>G ENST00000367862.5 + 16 2483 c.2248A>G c.(2248-2250)Acc>Gcc p.T750A POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 738 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CACCACCACCACCGCCTCCAA 0.582000 7 770 0 0 0.069234 0 0 EWSR1 2130 broad.mit.edu 37 22 29695793 29695793 + Missense_Mutation SNP A A C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:29695793A>C ENST00000397938.2 + 16 2202 c.1883A>C c.(1882-1884)cAg>cCg p.Q628P EWSR1_ENST00000332035.6_Missense_Mutation_p.Q572P|EWSR1_ENST00000332050.6_Missense_Mutation_p.Q555P|EWSR1_ENST00000331029.7_Missense_Mutation_p.Q590P|EWSR1_ENST00000406548.1_Missense_Mutation_p.Q627P|EWSR1_ENST00000414183.2_Missense_Mutation_p.Q633P 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 1 628 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 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 TTGATGGAACAGATGGGAGGA 0.602000 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""" 5 110 0 0 0.014758 0 0 RP1L1 94137 broad.mit.edu 37 8 10465022 10465022 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:10465022T>C ENST00000382483.3 - 4 6809 c.6586A>G c.(6586-6588)Ata>Gta p.I2196V NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2196 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGGCCTCTATACCTTCTGAC 0.612000 16 1668 0 0 0.175082 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 5 225 0 0 0.058154 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238705 71238705 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:71238705G>A ENST00000398536.4 + 1 393 c.359G>A c.(358-360)tGc>tAc p.C120Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 120 7 X 4 AA repeats of C-C-X-P. keratin filament p.C120Y(2) breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 tgtaagccctgctgctgccag 0.607000 12 1533 0 0 0.119110 0 0 SNX21 90203 broad.mit.edu 37 20 44469465 44469465 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:44469465G>A ENST00000372542.1 + 3 920 c.608G>A c.(607-609)cGt>cAt p.R203H SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R212H|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000342644.5_Intron Q969T3 SNX21_HUMAN sorting nexin family member 21 212 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) ATTGCCCGCCGTAGCCGGGCC 0.642000 5 366 0 0 0.014758 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276918 71276918 + Silent SNP C C T rs36179995 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:71276918C>T ENST00000398531.1 + 1 310 c.285C>T c.(283-285)ggC>ggT p.G95G KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 95 7 X 4 AA repeats of C-C-X-P. keratin filament p.G95G(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTGTGGCTCCTGTGGGG 0.687000 20 568 0 0 0.183431 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581109 40581109 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:40581109T>C ENST00000450241.2 - 6 1449 c.1138A>G c.(1138-1140)Ata>Gta p.I380V ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I415V(1)|p.I380V(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTATACCAGCATGA 0.383000 7 1104 0 0 0.021553 0 0 CDT1 81620 broad.mit.edu 37 16 88871873 88871873 + Missense_Mutation SNP C C T rs3218727 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:88871873C>T ENST00000301019.4 + 4 1133 c.514C>T c.(514-516)Cgc>Tgc p.R172C NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 172 Interaction with GMNN. R -> C (in dbSNP:rs3218727). DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CGCCTACCAGCGCTTCCATGC 0.677000 9 348 0 0 0.069234 0 0 KNDC1 85442 broad.mit.edu 37 10 134997481 134997481 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:134997481G>A ENST00000304613.3 + 5 634 c.613G>A c.(613-615)Gga>Aga p.G205R KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R|KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 205 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CGAGTCCTTCGGAGCGCTGCA 0.582000 13 304 0 0 0.093190 0 0 POLM 27434 broad.mit.edu 37 7 44112788 44112788 + Missense_Mutation SNP T T G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:44112788T>G ENST00000395831.3 - 9 1446 c.1400A>C c.(1399-1401)cAc>cCc p.H467P POLM_ENST00000242248.5_3'UTR|POLM_ENST00000335195.6_3'UTR Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 0 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CGGGGAGGGGTGAAGGTGGGG 0.632000 DNA polymerases (catalytic subunits) 15 29 0 0 0.144211 0 0 VPS13D 55187 broad.mit.edu 37 1 12423195 12423195 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:12423195G>A ENST00000358136.3 + 52 10470 c.10340G>A c.(10339-10341)cGg>cAg p.R3447Q VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3446 protein localization p.R3447Q(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACTGGCCTCGGAATGACTAT 0.453000 16 438 0 0 0.132662 0 0 PRB3 5544 broad.mit.edu 37 12 11420929 11420929 + RNA SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:11420929C>T ENST00000381842.3 - 0 291 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTGGTTTCCTCCTTGTGGGGG 0.632000 12 1942 0 0 0.021553 0 0 COL6A6 131873 broad.mit.edu 37 3 130284081 130284081 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:130284081G>A ENST00000358511.6 + 3 936 c.905G>A c.(904-906)cGa>cAa p.R302Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 302 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTTTCTCCCCGAACTGGGAAG 0.478000 11 429 0 0 0.069234 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 6 177 0 0 0.119110 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 14 197 0 0 0.043863 0 0 TCHH 7062 broad.mit.edu 37 1 152082320 152082320 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:152082320T>C ENST00000368804.1 - 2 3372 c.3373A>G c.(3373-3375)Aga>Gga p.R1125G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1125 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cgttcctctctcagcagctgc 0.612000 7 681 0 0 0.038147 0 0 THRB 7068 broad.mit.edu 37 3 24231773 24231773 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:24231773G>A ENST00000396671.2 - 5 423 c.75C>T c.(73-75)caC>caT p.H25H THRB_ENST00000356447.4_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 25 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GCTTCCAGTCGTGTTCTCGGT 0.493000 5 404 0 0 0.014758 0 0 CELF2 10659 broad.mit.edu 37 10 11363283 11363283 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:11363283G>A ENST00000379261.4 + 11 1281 c.1189G>A c.(1189-1191)Gcg>Acg p.A397T CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000315874.3_Missense_Mutation_p.A379T|CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 397 Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CGCAGCCGCCGCGCTGCCCAC 0.657000 11 288 0 0 0.093190 0 0 EWSR1 2130 broad.mit.edu 37 22 29695789 29695789 + Nonsense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:29695789G>T ENST00000397938.2 + 16 2198 c.1879G>T c.(1879-1881)Gaa>Taa p.E627* EWSR1_ENST00000332035.6_Nonsense_Mutation_p.E571*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.E554*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.E589*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.E626*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.E632* 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 1 627 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 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 ACCTTTGATGGAACAGATGGG 0.602000 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""" 5 110 0.000602214 0.000628284 0.014758 1 0 SHROOM3 57619 broad.mit.edu 37 4 77661903 77661903 + Silent SNP C C G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:77661903C>G ENST00000296043.6 + 5 3530 c.2577C>G c.(2575-2577)tcC>tcG p.S859S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 859 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AAGAGGCTTCCCGGCAGCCCT 0.632000 13 369 0 0 0.093190 0 0 MIR513A2 0 broad.mit.edu 37 X 146307386 146307386 + RNA SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:146307386G>T ENST00000385249.1 - 0 84 NR_030232.1 acccttctcagaaaggtgaaa 0.478000 8 354 1.12685e-05 1.19635e-05 0.047766 1 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 11 1441 0 0 0.047766 0 0 TUBBP5 0 broad.mit.edu 37 9 141070064 141070064 + RNA SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:141070064G>A ENST00000503395.1 + 0 1144 TGGCAGGTACGTGCCCCGCGC 0.716000 8 282 0 0 0.080935 0 0 XKR4 114786 broad.mit.edu 37 8 56436505 56436505 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:56436505G>A ENST00000327381.5 + 3 1772 c.1672G>A c.(1672-1674)Gac>Aac p.D558N NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 558 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TGTTGTCAGCGACCGCGATCA 0.587000 5 330 0 0 0.014758 0 0 CREBBP 1387 broad.mit.edu 37 16 3790494 3790494 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:3790494G>A ENST00000262367.5 - 24 4848 c.4039C>T c.(4039-4041)Cgg>Tgg p.R1347W CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309W NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1347 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTCTGGCGCCGCAAAAATTTG 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 363 0 0 0.029380 0 0 LRRC37A5P 0 broad.mit.edu 37 9 114371356 114371356 + RNA SNP C C A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:114371356C>A ENST00000374304.1 - 0 443 ATACAGTTCTCAATTCTTGCT 0.493000 7 243 0.00198382 0.00204316 0.029380 1 0 UNC79 57578 broad.mit.edu 37 14 94004400 94004400 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr14:94004400C>T ENST00000553484.1 + 12 1342 c.1188C>T c.(1186-1188)caC>caT p.H396H UNC79_ENST00000256339.4_Silent_p.H219H|UNC79_ENST00000555664.1_Silent_p.H396H|UNC79_ENST00000393151.2_Silent_p.H396H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 396 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTGGTCGTCACGGAAACAGGC 0.502000 7 334 0 0 0.038147 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a 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 6 254 0 0 0.029380 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 8 324 0 0 0.058154 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 14 628 0 0 0.105934 0 0 SBK1 388228 broad.mit.edu 37 16 28331735 28331735 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:28331735G>A ENST00000341901.4 + 4 1557 c.768G>A c.(766-768)gcG>gcA p.A256A NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 256 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GGGAGGCGGCGTCGGGCGCCG 0.746000 11 160 0 0 0.093190 0 0 RPRD1B 58490 broad.mit.edu 37 20 36694636 36694636 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:36694636C>T ENST00000373433.4 + 6 1211 c.809C>T c.(808-810)tCg>tTg p.S270L NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B 270 endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 GATGTTTTGTCGGAGAAGGAG 0.502000 12 480 0 0 0.105934 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147009 161147009 + RNA SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:161147009A>G ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CCGAATCAGGATGTTGACCTT 0.438000 6 450 0 0 0.080935 0 0 RNF213 57674 broad.mit.edu 37 17 78363984 78363984 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:78363984G>A ENST00000582970.1 + 67 15601 c.15458G>A c.(15457-15459)cGc>cAc p.R5153H RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|CTD-2047H16.4_ENST00000572151.1_RNA 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) GAGCGCTTCCGCCCTCAGTGG 0.483000 27 650 0 0 0.099896 0 0 POTEH 23784 broad.mit.edu 37 22 16287673 16287673 + Missense_Mutation SNP C C G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:16287673C>G ENST00000343518.6 - 1 264 c.213G>C c.(211-213)tgG>tgC p.W71C NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 71 p.W71C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCCCCCTGCACCAGGGGAAGC 0.582000 8 1856 0 0 0.014758 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 8 393 0 0 0.132662 0 0 SPOCK1 6695 broad.mit.edu 37 5 136403476 136403476 + Missense_Mutation SNP C C T rs139465331 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:136403476C>T ENST00000394945.1 - 6 686 c.517G>A c.(517-519)Gcc>Acc p.A173T SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 173 Kazal-like. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGAGGGTGGCGAGGCTTTTG 0.527000 16 469 0 0 0.043863 0 0 MN1 4330 broad.mit.edu 37 22 28194183 28194183 + Silent SNP A A C rs147022536 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:28194183A>C ENST00000302326.4 - 1 3303 c.2349T>G c.(2347-2349)ggT>ggG p.G783G NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 783 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GCGGGTAGGCACCCCCGCCAC 0.726000 T ETV6 """AML, meningioma""" 17 40 0 0 0.183431 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 7 223 0 0 0.029380 0 0 C3AR1 719 broad.mit.edu 37 12 8211546 8211546 + Silent SNP A A C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:8211546A>C ENST00000307637.4 - 2 1439 c.1236T>G c.(1234-1236)acT>acG p.T412T NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 412 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) AGGACATCAGAGTTTTCCCCA 0.468000 10 282 0 0 0.058154 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 7 33 0 0 0.047766 0 0 SNAP47 116841 broad.mit.edu 37 1 227968309 227968309 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:227968309G>A ENST00000366759.4 + 5 1744 c.1330G>A c.(1330-1332)Gca>Aca p.A444T SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 444 t-SNARE coiled-coil homology 2. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TGGCGTTGCAGCAGCTGTGGA 0.597000 5 335 0 0 0.014758 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143683 91143683 + Missense_Mutation SNP G G A rs147758253 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:91143683G>A ENST00000371809.3 + 2 693 c.613G>A c.(613-615)Gtc>Atc p.V205I LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 205 binding endometrium(2)|large_intestine(3)|lung(8) 13 TTCTCTGCACGTCCTAAAACG 0.448000 11 1748 0 0 0.069234 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 7 486 0 0 0.029380 0 0 PRG4 10216 broad.mit.edu 37 1 186277098 186277098 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186277098C>T ENST00000445192.2 + 7 2292 c.2247C>T c.(2245-2247)ccC>ccT p.P749P PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P708P|PRG4_ENST00000367486.3_Silent_p.P706P|PRG4_ENST00000367485.4_Silent_p.P656P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 749 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 GTGACAAGCCCGCTCCAACTA 0.607000 8 1116 0 0 0.093190 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 11 930 0 0 0.055883 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 5 241 0 0 0.014758 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 8 875 0 0 0.069234 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 6 376 0 0 0.119110 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367485.4_Silent_p.T486T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T579T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCAACTACCCCCAAGG 0.647000 44 657 0 0 0.139131 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 4 40 0 0 0.038147 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 12 836 0 0 0.175082 0 0 HSP90B1 7184 broad.mit.edu 37 12 104327988 104327988 + Silent SNP C C A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:104327988C>A ENST00000299767.5 + 5 848 c.666C>A c.(664-666)atC>atA p.I222I NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 222 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) CCCAGCACATCTGGGAGTCTG 0.433000 11 276 0.000673444 0.000699569 0.069234 1 0 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:71347033C>T ENST00000413702.1 + 4 860 c.572C>T c.(571-573)gCc>gTc p.A191V MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 191 Thr-rich. extracellular region protein binding p.A191V(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587000 9 1084 0 0 0.029380 0 0 AC226119.5 0 broad.mit.edu 37 4 3952899 3952899 + RNA SNP A A T rs17410906 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:3952899A>T ENST00000281228.8 - 0 208 FAM86EP_ENST00000313946.8_RNA AGCACCGGGCATACTTGACTG 0.557000 12 308 0 0 0.132662 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) 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) GAACATCCTGCGCCCAGCGGG 0.582000 9 857 0 0 0.160694 0 0 PTPRF 5792 broad.mit.edu 37 1 44071948 44071948 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:44071948G>A ENST00000359947.4 + 20 3861 c.3521G>A c.(3520-3522)cGg>cAg p.R1174Q PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1174 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGAGCAGCGGCGGCGGCGG 0.632000 7 557 0 0 0.029380 0 0 EPB41 2035 broad.mit.edu 37 1 29314163 29314163 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:29314163C>T ENST00000343067.4 + 2 341 c.214C>T c.(214-216)Cgg>Tgg p.R72W EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 72 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GAACAAGGAGCGGACATCAGA 0.453000 6 946 0 0 0.029380 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119128441 119128441 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:119128441G>A ENST00000264245.4 + 11 2276 c.1744G>A c.(1744-1746)Gcc>Acc p.A582T NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 582 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GGAGCCAGGCGCCCACCTGGA 0.542000 8 154 0 0 0.058154 0 0 CHAT 1103 broad.mit.edu 37 10 50827783 50827783 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:50827783C>T ENST00000395562.2 + 4 623 c.154C>T c.(154-156)Ctg>Ttg p.L52L CHAT_ENST00000351556.3_Silent_p.L16L|CHAT_ENST00000337653.2_Silent_p.L134L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000455728.2_Silent_p.L16L NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 134 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCTGCCCAAACTGCCCGTGCC 0.577000 6 137 0 0 0.047766 0 0 EWSR1 2130 broad.mit.edu 37 22 29695794 29695794 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:29695794G>A ENST00000397938.2 + 16 2203 c.1884G>A c.(1882-1884)caG>caA p.Q628Q EWSR1_ENST00000332035.6_Silent_p.Q572Q|EWSR1_ENST00000332050.6_Silent_p.Q555Q|EWSR1_ENST00000331029.7_Silent_p.Q590Q|EWSR1_ENST00000406548.1_Silent_p.Q627Q|EWSR1_ENST00000414183.2_Silent_p.Q633Q 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 1 628 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 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 TGATGGAACAGATGGGAGGAA 0.602000 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""" 5 109 0 0 0.014758 0 0 PPT1 5538 broad.mit.edu 37 1 40539758 40539758 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:40539758G>A ENST00000433473.3 - 9 1360 c.896C>T c.(895-897)gCc>gTc p.A299V PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.A80V|PPT1_ENST00000449045.2_Missense_Mutation_p.A196V NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 299 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TATGATGTGGGCATAAAACCA 0.483000 6 821 0 0 0.029380 0 0 P2RY8 286530 broad.mit.edu 37 X 1584602 1584602 + Missense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:1584602G>T ENST00000381297.4 - 2 1060 c.850C>A c.(850-852)Ctc>Atc p.L284I NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 284 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGTTGTTGAGGCAGCTGAGA 0.587000 T CRLF2 """B-ALL, Downs associated ALL""" 21 550 1.64293e-13 1.80798e-13 0.083992 1 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 9 163 0 0 0.105934 0 0 HMCN1 83872 broad.mit.edu 37 1 185931765 185931765 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:185931765C>T ENST00000271588.4 + 12 2173 c.1944C>T c.(1942-1944)aaC>aaT p.N648N HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 648 Ig-like C2-type 3. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGACCGTTAACGATATGTTTA 0.413000 9 390 0 0 0.058154 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 7 469 0 0 0.038147 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 12 281 0 0 0.093190 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 6 758 0 0 0.029380 0 0 OR5D18 219438 broad.mit.edu 37 11 55587727 55587727 + Nonsense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:55587727G>T ENST00000333976.4 + 1 642 c.622G>T c.(622-624)Gaa>Taa p.E208* NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CACCTTTAATGAAATCAGCAC 0.448000 14 494 1.05317e-09 1.14331e-09 0.119110 1 0 DIP2B 57609 broad.mit.edu 37 12 51065103 51065103 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:51065103G>A ENST00000301180.5 + 5 596 c.562G>A c.(562-564)Gca>Aca p.A188T NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 188 Ser-rich. nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TTCTTCATCCGCATCTTCTAC 0.517000 5 498 0 0 0.014758 0 0 SYNE1 23345 broad.mit.edu 37 6 152777116 152777116 + Missense_Mutation SNP T T G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:152777116T>G ENST00000367255.5 - 23 3233 c.2632A>C c.(2632-2634)Agt>Cgt p.S878R SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R|SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 878 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTTGAACACTTTGACTGCCT 0.363000 HNSCC(10;0.0054) 6 380 0 0 0.029380 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity 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 0.537000 11 202 0 0 0.080935 0 0 ATG3 64422 broad.mit.edu 37 3 112267472 112267472 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:112267472C>T ENST00000402314.2 - 5 638 c.251G>A c.(250-252)cGg>cAg p.R84Q ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.R84Q Q9NT62 ATG3_HUMAN autophagy related 3 84 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 CTGTTTGCACCGCTTATAGCA 0.378000 7 211 0 0 0.029380 0 0 TIAM1 7074 broad.mit.edu 37 21 32493078 32493078 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr21:32493078C>T ENST00000286827.3 - 29 4855 c.4384G>A c.(4384-4386)Gtc>Atc p.V1462I TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1462 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTTGCGGAGACGGCATCAGAA 0.562000 14 392 0 0 0.132662 0 0 TRBV5-7 0 broad.mit.edu 37 7 142111625 142111625 + RNA SNP G G T rs143168323 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:142111625G>T ENST00000390378.1 - 0 110 TCAGAGTCACGTGCTGTCCTC 0.532000 8 732 1.96292e-10 2.14056e-10 0.055883 1 0 PRG4 10216 broad.mit.edu 37 1 186276027 186276027 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186276027T>C ENST00000445192.2 + 7 1221 c.1176T>C c.(1174-1176)acT>acC p.T392T PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 392 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 CACCCACCACTCCCAAGGAGC 0.637000 24 836 0 0 0.139131 0 0 KRT7 3855 broad.mit.edu 37 12 52639299 52639299 + Missense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:52639299G>T ENST00000331817.5 + 7 1271 c.1088G>T c.(1087-1089)cGg>cTg p.R363L RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 363 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) GCCCTGCAGCGGGGCAAGCAG 0.647000 5 442 0.00116845 0.00120856 0.021553 1 0 SLC7A3 84889 broad.mit.edu 37 X 70146816 70146816 + Missense_Mutation SNP C C A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:70146816C>A ENST00000374299.3 - 9 1506 c.1362G>T c.(1360-1362)gaG>gaT p.E454D SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 454 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGGTCAACTTCTCTGATTCAG 0.468000 17 313 3.32936e-07 3.56611e-07 0.175082 1 0 LRRIQ4 344657 broad.mit.edu 37 3 169539979 169539979 + Silent SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:169539979G>T ENST00000340806.6 + 1 270 c.270G>T c.(268-270)ctG>ctT p.L90L NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 90 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GCCCGGCGCTGGGGCTGCTGA 0.567000 10 632 0.0809354 0.0826501 0.080935 1 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 5 212 0 0 0.146539 0 0 TGM5 9333 broad.mit.edu 37 15 43527834 43527834 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:43527834G>A ENST00000220420.5 - 10 1554 c.1547C>T c.(1546-1548)cCg>cTg p.P516L TGM5_ENST00000349114.4_Missense_Mutation_p.P434L NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 516 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CATGTTGGGCGGGTCGAGCAG 0.567000 11 235 0 0 0.093190 0 0 CCDC70 83446 broad.mit.edu 37 13 52439917 52439917 + Missense_Mutation SNP T T A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr13:52439917T>A ENST00000242819.4 + 2 699 c.403T>A c.(403-405)Ttc>Atc p.F135I NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 135 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GGATAAGGCCTTCTGGAAAGA 0.478000 44 947 0 0 0.092188 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 8 671 0 0 0.069234 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367485.4_Silent_p.T315T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 41 732 0 0 0.139131 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131809 82131809 + Missense_Mutation SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:82131809A>G ENST00000199936.4 + 5 1125 c.932A>G c.(931-933)aAc>aGc p.N311S RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 311 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) CTATTGATCAACTCGTTAGCC 0.542000 20 502 0 0 0.049695 0 0 CSH2 1443 broad.mit.edu 37 17 61949520 61949520 + Missense_Mutation SNP T T A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:61949520T>A ENST00000392886.2 - 5 771 c.620A>T c.(619-621)cAg>cTg p.Q207L CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 207 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 AGAGCGGCACTGCACCATGCG 0.592000 20 434 0 0 0.043863 0 0 CCNB3 85417 broad.mit.edu 37 X 50054016 50054016 + Silent SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:50054016A>G ENST00000376042.1 + 6 3145 c.2847A>G c.(2845-2847)ttA>ttG p.L949L CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L Q8WWL7 CCNB3_HUMAN cyclin B3 949 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.L949L(5) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGGAGCCATTAGCCTTACAAG 0.483000 6 604 0 0 0.021553 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613833 27613833 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:27613833T>C ENST00000225388.4 - 2 1237 c.1179A>G c.(1177-1179)caA>caG p.Q393Q NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 393 Ser-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) GACTTGATGATTGGGTCTGAG 0.433000 47 596 0 0 0.139131 0 0 ZFP36 7538 broad.mit.edu 37 19 39899271 39899271 + Missense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:39899271G>T ENST00000597629.1 + 2 1005 c.931G>T c.(931-933)Gca>Tca p.A311S ZFP36_ENST00000248673.3_Missense_Mutation_p.A305S P26651 TTP_HUMAN ZFP36 ring finger protein 305 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGAGTTTTTGCACCACCCCA 0.617000 28 180 2.89935e-36 3.20525e-36 0.139131 1 0 POLR2B 5431 broad.mit.edu 37 4 57876368 57876368 + Splice_Site SNP T T G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:57876368T>G ENST00000510355.1 + 1 28 c.e1+2 POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000441246.2_Intron P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AAGTGGCAGGTAAGTTAAAGT 0.353000 12 25 0 0 0.043863 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 5 170 0 0 0.029380 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606186 1606186 + Silent SNP A A G rs137999496 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:1606186A>G ENST00000382171.2 - 1 327 c.294T>C c.(292-294)ggT>ggC p.G98G KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 98 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGGAGCCACAACCCCCCTTGG 0.677000 25 385 0 0 0.139131 0 0 TRPM3 80036 broad.mit.edu 37 9 73151119 73151119 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:73151119T>C ENST00000377110.2 - 25 5117 c.4874A>G c.(4873-4875)aAc>aGc p.N1625S TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1650 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AGTGATGTTGTTGGACAGGGT 0.552000 97 2223 0 0 0.139131 0 0 RP1L1 94137 broad.mit.edu 37 8 10466059 10466059 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:10466059C>T ENST00000382483.3 - 4 5772 c.5549G>A c.(5548-5550)gGt>gAt p.G1850D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1850 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCCTCTACACCTTCTGACTC 0.642000 9 1696 0 0 0.029380 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887081 47887081 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:47887081G>A ENST00000396105.1 - 3 1514 c.1268C>T c.(1267-1269)tCa>tTa p.S423L ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 423 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TATGCCTGATGATGAACACAT 0.448000 7 931 0 0 0.038147 0 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 9 382 0 0 0.058154 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 5 145 0 0 0.029380 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 7 963 0 0 0.029380 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 9 294 0 0 0.069234 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 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 CACCCACCACCCCCAAGGAGC 0.637000 8 1033 0 0 0.119110 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 4 98 0 0 0.058154 0 0 KIAA0100 9703 broad.mit.edu 37 17 26946933 26946933 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:26946933C>T ENST00000528896.2 - 30 5539 c.5465G>A c.(5464-5466)cGg>cAg p.R1822Q KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1822 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CACATGCTGCCGCACAGCCTC 0.493000 13 383 0 0 0.093190 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 7 30 0 0 0.047766 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278842 36278842 + Silent SNP A A C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:36278842A>C ENST00000007510.4 + 21 3519 c.3375A>C c.(3373-3375)tcA>tcC p.S1125S ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1125 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TTGGCCAATCACCCCCACTCC 0.667000 22 104 0 0 0.108266 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 6 376 0 0 0.080935 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359110 145359110 + Missense_Mutation SNP G G C rs4058802 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:145359110G>C ENST00000342960.5 + 72 9085 c.9050G>C c.(9049-9051)tGt>tCt p.C3017S NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3017 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTTGAACTGTGTGACTCATGC 0.488000 5 303 0 0 0.043863 0 0 CAPN15 6650 broad.mit.edu 37 16 601540 601540 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:601540C>T ENST00000219611.2 + 9 2584 c.2221C>T c.(2221-2223)Cgt>Tgt p.R741C LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CCCGTGGGGCCGTTTCTCCTG 0.672000 8 566 0 0 0.047766 0 0 SALL1 6299 broad.mit.edu 37 16 51175661 51175661 + Missense_Mutation SNP T T C rs139646526 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:51175661T>C ENST00000440970.1 - 2 612 c.181A>G c.(181-183)Agc>Ggc p.S61G SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 158 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ccgccgctgctgctgctgctg 0.632000 5 251 0 0 0.029380 0 0 ALK 238 broad.mit.edu 37 2 30143012 30143012 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:30143012C>T ENST00000389048.3 - 1 1420 c.514G>A c.(514-516)Gag>Aag p.E172K ALK_ENST00000431873.1_Missense_Mutation_p.E172K NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 172 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CTGAACAGCTCGCTGAGATTG 0.647000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 248 0 0 0.038147 0 0 DENND5A 23258 broad.mit.edu 37 11 9225319 9225319 + Silent SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:9225319A>G ENST00000328194.3 - 4 1157 c.837T>C c.(835-837)ctT>ctC p.L279L DENND5A_ENST00000530044.1_Silent_p.L279L NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 279 DENN. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CAAATAGGGGAAGCTCATTGG 0.498000 5 574 0 0 0.014758 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 8 1351 0 0 0.021553 0 0 TET2 54790 broad.mit.edu 37 4 106157130 106157130 + Nonsense_Mutation SNP T T A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:106157130T>A ENST00000540549.1 + 3 2891 c.2031T>A c.(2029-2031)tgT>tgA p.C677* TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698* Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 677 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AGTCACTGTGTGGCACTAGAT 0.438000 """Mis N, F""" MDS 5 398 0 0 0.021553 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891852 18891852 + Missense_Mutation SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:18891852A>G ENST00000317658.3 + 1 808 c.650A>G c.(649-651)aAc>aGc p.N217S NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 217 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GAAATAGTTAACCAAGCTCAA 0.398000 8 250 0 0 0.038147 0 0 AKAP4 8852 broad.mit.edu 37 X 49957303 49957303 + Silent SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:49957303A>G ENST00000376056.2 - 5 2184 c.2034T>C c.(2032-2034)agT>agC p.S678S AKAP4_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.S678S Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 687 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GCTTCATCCCACTGGTACAGT 0.478000 9 281 0 0 0.058154 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999774 45999774 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr21:45999774T>C ENST00000400372.1 - 1 707 c.682A>G c.(682-684)Ata>Gta p.I228V TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 228 22 X 5 AA repeats of C-C-X(3). keratin filament p.I228V(1) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGCCTGCATATGGGGCGGCAG 0.682000 8 701 0 0 0.175082 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 234 0 0 0.058154 0 0 IFT122 55764 broad.mit.edu 37 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:129221571G>A ENST00000296266.3 + 21 2738 c.2546G>A c.(2545-2547)cGc>cAc p.R849H IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 798 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GACATCGCCCGCAAACTGGAC 0.597000 6 856 0 0 0.021553 0 0 PRG4 10216 broad.mit.edu 37 1 186276615 186276615 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:186276615T>C ENST00000445192.2 + 7 1809 c.1764T>C c.(1762-1764)acT>acC p.T588T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T547T|PRG4_ENST00000367486.3_Silent_p.T545T|PRG4_ENST00000367485.4_Silent_p.T495T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 588 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T588T(3) 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 CACCCACCACTCCCAAGGAAC 0.652000 25 592 0 0 0.139131 0 0 KIAA1045 23349 broad.mit.edu 37 9 34971580 34971580 + Missense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:34971580G>T ENST00000242315.3 + 2 367 c.285G>T c.(283-285)agG>agT p.R95S KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S|KIAA1045_ENST00000476115.2_Intron NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 95 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) AGTTTGACAGGACAAGTCGAT 0.622000 11 1758 3.09899e-07 3.33418e-07 0.047766 1 0 ZAN 7455 broad.mit.edu 37 7 100350592 100350592 + RNA SNP T T C rs112032841 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:100350592T>C ENST00000542585.1 + 0 3012 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACTCACCATCCCC 0.512000 19 1026 0 0 0.091800 0 0 PCDHA13 0 broad.mit.edu 37 5 140263026 140263026 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:140263026G>A ENST00000289272.2 + 1 1173 c.1173G>A c.(1171-1173)ccG>ccA p.P391P PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.P391P(4) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTGACGCCGCATGTCCCCT 0.547000 6 870 0 0 0.021553 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 57 291 0 0 0.139131 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 7 416 1.58986e-06 1.69539e-06 0.069234 1 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 4 130 0 0 0.069234 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 10 1278 0 0 0.119110 0 0 NBPF12 149013 broad.mit.edu 37 1 146397379 146397379 + Missense_Mutation SNP C C G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:146397379C>G ENST00000442909.2 + 6 1032 c.196C>G c.(196-198)Ctc>Gtc p.L66V NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V|NBPF12_ENST00000309471.8_Intron neuroblastoma breakpoint family, member 12 ovary(2) 2 GTGTAAAGACCTCATAAAATT 0.527000 8 964 0 0 0.093190 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 6 343 0 0 0.047766 0 0 SEPT14 346288 broad.mit.edu 37 7 55872990 55872990 + Silent SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:55872990G>A ENST00000388975.3 - 9 1196 c.1080C>T c.(1078-1080)gtC>gtT p.V360V NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 360 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTTCTCCTTGACTCGCTGCA 0.343000 6 201 0 0 0.029380 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507261 71507261 + Missense_Mutation SNP A A G rs111708284 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:71507261A>G ENST00000528685.1 + 3 358 c.358A>G c.(358-360)Aca>Gca p.T120A FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 AGCTGTCCCTACAGGACTCCA 0.627000 6 653 0 0 0.055883 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000456883.2_Silent_p.E1319E|GOLGA3_ENST00000450791.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTAGCCCTTCCAGTTCCT 0.587000 7 435 0 0 0.069288 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 14 244 0 0 0.132662 0 0 FILIP1 27145 broad.mit.edu 37 6 76022448 76022448 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:76022448G>A ENST00000393004.2 - 5 3321 c.3100C>T c.(3100-3102)Cgg>Tgg p.R1034W FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034W Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1034 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AGGATTGTCCGTCCCATGGGC 0.468000 7 937 0 0 0.029380 0 0 CAMTA1 23261 broad.mit.edu 37 1 7796575 7796575 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:7796575C>T ENST00000303635.7 + 13 3445 c.3238C>T c.(3238-3240)Cta>Tta p.L1080L CAMTA1_ENST00000439411.2_Silent_p.L1080L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1080 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTATGCCACCCTAATCCAGAC 0.607000 T WWTR1 epitheliod hemangioendothelioma 24 566 0 0 0.083992 0 0 FIGN 55137 broad.mit.edu 37 2 164466495 164466495 + Missense_Mutation SNP A A G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:164466495A>G ENST00000333129.3 - 3 2161 c.1847T>C c.(1846-1848)gTa>gCa p.V616A FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 616 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGAAGTTAGTACAGTGTCCAG 0.423000 13 481 0 0 0.160694 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606166 1606166 + Missense_Mutation SNP G G C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:1606166G>C ENST00000382171.2 - 1 347 c.314C>G c.(313-315)tCc>tGc p.S105C KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 105 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCCCCCTTGGAGCCCCCACA 0.672000 13 383 0 0 0.144211 0 0 TPK1 27010 broad.mit.edu 37 7 144380019 144380019 + Missense_Mutation SNP G G T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:144380019G>T ENST00000538212.2 - 2 102 c.32C>A c.(31-33)cCg>cAg p.P11Q TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000360057.3_Silent_p.T56T Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 0 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) TCTCTCCTTCGGTGATATCAT 0.388000 7 964 0.0293803 0.0301305 0.029380 1 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 9 926 0 0 0.069234 0 0 MFSD9 84804 broad.mit.edu 37 2 103335481 103335481 + Missense_Mutation SNP G G A rs144200432 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:103335481G>A ENST00000258436.5 - 6 866 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 275 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 TTCATGTTCCGCAAGGCCAAC 0.557000 7 432 0 0 0.029380 0 0 TNN 63923 broad.mit.edu 37 1 175086325 175086325 + Silent SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:175086325C>T ENST00000239462.4 + 10 2483 c.2370C>T c.(2368-2370)gaC>gaT p.D790D NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 790 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGAAGGCTGACACCAAGGCCC 0.537000 19 479 0 0 0.043863 0 0 ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 29 644 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246357 154246357 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:154246357delG ENST00000328703.7 + 3 637 c.424delG c.(424-426)ggfs p.G143fs HAX1_ENST00000483970.2_Frame_Shift_Del_p.G151fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.G95fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.G15fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 143 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGGATCTTTGGGGGGGTCTT 0.552 Kostmann syndrome 7 916 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576487 158576487 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:158576487delG ENST00000361284.1 + 1 259 c.259delG c.(259-261)ggfs p.G88fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCCTGGCTGGGGGGGACCA 0.552 7 1254 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 11 596 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 8 215 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176525710 176525710 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:176525710delG ENST00000367662.3 + 2 1416 c.252delG c.(250-252)gtfs p.V84fs PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.V84fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 84 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTACCCCGTGGGGGAGCAAG 0.567 7 1302 --- --- --- --- ACBD3 64746 broad.mit.edu 37 1 226352490 226352491 + Splice_Site INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr1:226352490_226352491insT ENST00000366812.5 - 3 622_623 c.569_splice c.e3+1 p.E190_splice NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 190 Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) CAAACTTCACCTTTTTTTTTCT 0.411 7 311 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 16 516 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 7 658 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 17 669 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 11 1285 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 262 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr2:187521085delG ENST00000261023.3 + 17 1950 c.1676delG c.(1675-1677)agfs p.R559fs ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTATTTCAAGGGGGGGACTG 0.428 8 996 --- --- --- --- AC022007.5 0 broad.mit.edu 37 3 10049093 10049094 + RNA INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:10049093_10049094insG ENST00000383808.2 - 0 904_905 GGGTCAGTGGCGGGGTGTGGTC 0.589 11 360 --- --- --- --- NUP210 23225 broad.mit.edu 37 3 13438890 13438890 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:13438890delG ENST00000254508.5 - 3 485 c.403delC c.(403-405)tgfs p.L135fs NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 135 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TTCAGCTCCAGGGGGGAGTCC 0.602 7 409 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679764 42679764 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:42679764delA ENST00000232978.8 + 13 2756 c.2568delA c.(2566-2568)tcfs p.S856fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 856 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GCCCTCATTCAAAAAAAAGAA 0.373 7 411 --- --- --- --- PRSS50 29122 broad.mit.edu 37 3 46759228 46759229 + In_Frame_Ins INS - - AGC rs143449678 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:46759228_46759229insAGC ENST00000460241.1 - 6 1756_1757 c.86_87insGCT c.(85-87)cct>cGCTct p.29_29P>RS PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29P>RS Q9UI38 TSP50_HUMAN protease, serine, 50 29 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.L32_R33insL(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 TCAGCAACAGAAGCAGCAGCAG 0.728 28 37 --- --- --- --- CELSR3 1951 broad.mit.edu 37 3 48685385 48685385 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:48685385delC ENST00000544264.1 - 21 7313 c.7033delG c.(7033-7035)ccfs p.A2345fs CELSR3_ENST00000164024.4_Frame_Shift_Del_p.A2340fs Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2340 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TAGCGACGGGCCCCCCGGGGA 0.632 7 1161 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 9 1461 --- --- --- --- MYH15 22989 broad.mit.edu 37 3 108229398 108229398 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:108229398delA ENST00000273353.3 - 2 96 c.40delT c.(40-42)ggfs p.W15fs NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 15 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCAATCCACCAAAAAAAGGCC 0.418 9 315 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 10 2427 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(640-645)gcggaafs p.E215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 8 69 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 447 --- --- --- --- SLITRK3 22865 broad.mit.edu 37 3 164906329 164906331 + In_Frame_Del DEL CCT CCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:164906329_164906331delCCT ENST00000475390.1 - 2 2731_2733 c.2288_2290delAGG c.(2287-2292)gtg>g p.EV763del SLITRK3_ENST00000241274.3_In_Frame_Del_p.EV763del O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 763 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GAAACAGCCACCTCCTCCTCCTC 0.581 HNSCC(40;0.11) 7 569 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 7 493 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 8 262 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:38691476delC ENST00000261438.5 + 4 976 c.671delC c.(670-672)tcfs p.S224fs KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AACTCAGTGTCCCCCCCGCAA 0.423 7 785 --- --- --- --- RFC1 5981 broad.mit.edu 37 4 39310612 39310612 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:39310612delT ENST00000381897.1 - 13 1662 c.1529delA c.(1528-1530)atfs p.N510fs RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 510 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TCCTTGGACATTTTTTTGGGG 0.353 7 426 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 7 805 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a 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 8 342 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:83785565delT ENST00000432794.1 - 11 1547 c.1384delA c.(1384-1386)ttfs p.I462fs SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 462 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I462fs*16(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAAGCATCAATTTTTTTTTGG 0.353 10 325 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745872 119745873 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:119745872_119745873insG ENST00000379735.5 - 3 421_422 c.150_151insC c.(148-153)gcccgcfs p.R51fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 51 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTAGTGGCGGTGGCCCCCAAAG 0.540 10 726 --- --- --- --- NAA15 80155 broad.mit.edu 37 4 140258043 140258043 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:140258043delA ENST00000296543.5 + 3 504 c.181delA c.(181-183)aafs p.K62fs NAA15_ENST00000398947.1_Frame_Shift_Del_p.K62fs|NAA15_ENST00000480277.2_3'UTR NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 62 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CTGTTTGGGGAAAAAGGAAGA 0.299 8 692 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 39 400 --- --- --- --- DHX29 54505 broad.mit.edu 37 5 54579209 54579210 + Frame_Shift_Ins INS - - C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:54579209_54579210insC ENST00000251636.5 - 11 1934_1935 c.1786_1787insG c.(1786-1788)aacfs p.N596fs RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 596 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ACTCCCTGTTTCACCTGCCACA 0.396 9 652 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 1480 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 10 762 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:122881495delA ENST00000395412.1 + 2 857 c.138delA c.(136-138)ggfs p.G46fs CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 46 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTAGAGTTGGAAAAAAAATTG 0.363 9 550 --- --- --- --- CDKL3 51265 broad.mit.edu 37 5 133634348 133634349 + Frame_Shift_Ins INS - - A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:133634348_133634349insA ENST00000265334.4 - 13 1890_1891 c.1772_1773insT c.(1771-1773)ttgfs p.L591fs CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_Intron NM_001113575.1 NP_001107047.1 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 591 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACACTACCAGAAAAAAAACCT 0.356 7 698 --- --- --- --- SH3TC2 79628 broad.mit.edu 37 5 148389864 148389865 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:148389864_148389865insG ENST00000538184.1 - 10 2824_2825 c.1936_1937insC c.(1936-1938)ccafs p.P646fs SH3TC2_ENST00000515425.1_Frame_Shift_Ins_p.P1099fs|SH3TC2_ENST00000512049.1_Frame_Shift_Ins_p.P1092fs Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1099 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCTGTGGCGGGTCCCATTG 0.550 7 398 --- --- --- --- DCTN4 51164 broad.mit.edu 37 5 150121709 150121710 + Frame_Shift_Ins INS - - C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:150121709_150121710insC ENST00000447998.2 - 4 510_511 c.395_396insG c.(394-396)gtgfs p.V132fs DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.V132fs|DCTN4_ENST00000424236.1_Frame_Shift_Ins_p.V75fs NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 132 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTCCTGCCAACCGCCACTAGC 0.337 10 975 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374632 180374633 + Frame_Shift_Del DEL GA GA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr5:180374632_180374633delGA ENST00000231229.4 + 4 1028_1029 c.794_795delGA c.(793-795)cfs p.R265fs BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 265 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGTGTAAGCGAGAGAGAGAAG 0.495 8 1464 --- --- --- --- JARID2 3720 broad.mit.edu 37 6 15501164 15501164 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:15501164delT ENST00000341776.2 + 8 2216 c.1972delT c.(1972-1974)ttfs p.F659fs JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs|JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 659 ARID. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CCTGGCCTGCTTTTTCCGGCT 0.517 8 1009 --- --- --- --- HIST1H1A 3024 broad.mit.edu 37 6 26017448 26017448 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:26017448delT ENST00000244573.3 - 1 592 c.513delA c.(511-513)aafs p.K171fs NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 171 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 CAGTTTTGGGTTTTTTTGGAT 0.483 7 984 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 7 415 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 13 39 --- --- --- --- DDX39B 7919 broad.mit.edu 37 6 31504445 31504446 + Frame_Shift_Ins INS - - A rs75750725 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:31504445_31504446insA ENST00000417556.2 - 6 1122_1123 c.492_493insT c.(490-495)ttgtggfs p.LW164fs DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.LW149fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.LW102fs|DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.LW71fs Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 149 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GACAGACCACCAAAAAAAACAG 0.510 11 376 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 27 835 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097086 32097086 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:32097086delC ENST00000375156.3 - 2 742 c.472delG c.(472-474)agfs p.E158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCTATGAGCTCCCCCCAAGTT 0.587 10 1958 --- --- --- --- HLA-DRB1 3123 broad.mit.edu 37 6 32557568 32557569 + Translation_Start_Site INS - - AT rs17204758 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:32557568_32557569insAT ENST00000360004.5 - 0 56_57 NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 GCAAGTCTCACTCAGGGAGAAC 0.540 Multiple Myeloma(14;0.17) 8 90 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 8 232 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 11 651 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 7 834 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390446 45390448 + In_Frame_Del DEL CAG CAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:45390446_45390448delCAG ENST00000371438.1 + 2 533_535 c.175_177delCAG c.(175-177)del p.Q71del RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcaacagcagcagcagc 0.729 13 295 --- --- --- --- TRAM2 9697 broad.mit.edu 37 6 52370505 52370506 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:52370505_52370506insG ENST00000182527.3 - 9 765_766 c.766_767insC c.(766-768)cctfs p.P256fs EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 256 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding p.R256L(1) endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) GATGAAGAGGCGGGTAACCCCA 0.535 9 484 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039411 55039411 + Frame_Shift_Del DEL C C - rs76774128 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:55039411delC ENST00000370862.3 + 1 362 c.26delC c.(25-27)tcfs p.S9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTGGAGGACTCCCCCCCTTGT 0.567 9 820 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 8 715 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 7 170 --- --- --- --- NCOA7 135112 broad.mit.edu 37 6 126176317 126176317 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:126176317delA ENST00000368357.3 + 4 554 c.202delA c.(202-204)aafs p.K70fs NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs|NCOA7_ENST00000487635.1_3'UTR NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 70 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GACTGATGAGAAAAAAAAGAG 0.358 8 1157 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 20 937 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144782471 144782471 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:144782471delA ENST00000367545.3 + 21 2846 c.2846delA c.(2845-2847)gafs p.E949fs NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 949 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCCCTGCAAGAAAAAAAGGTA 0.348 7 913 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560589 161560589 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr6:161560589delG ENST00000320285.4 - 8 1119 c.907delC c.(907-909)ggfs p.R304fs AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 304 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.R303fs*7(2)|p.R303fs*60(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CAGGGCCGCCGGGGGGGCACC 0.627 8 614 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 9 888 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:11075380_11075381delAG ENST00000403050.3 + 8 2021_2022 c.1569_1570delAG c.(1567-1572)caagfs p.QE523fs PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 523 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGTCTTTGCAAGAGAGAGAGAA 0.376 7 1130 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 9 593 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 7 149 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 8 249 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 66 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532452 64532452 + RNA DEL T T - rs67432959 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:64532452delT ENST00000426828.1 + 0 1228 NR_033416.1 atgcccagccttttttttttt 0.408 8 13 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:65150713_65150714insA ENST00000430126.2 + 0 694_695 CATACCATGAGAAAATCTCTAA 0.436 7 349 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 8 125 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150817 65150817 + RNA DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:65150817delC ENST00000430126.2 + 0 757 TCATCCCTCACCCCCCCCCCC 0.468 13 107 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCGGAAGGTTCCTCCTCCTCCT 0.675 10 378 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 11 328 --- --- --- --- ZNF800 168850 broad.mit.edu 37 7 127014205 127014205 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr7:127014205delT ENST00000393313.1 - 5 1776 c.1185delA c.(1183-1185)aafs p.K395fs ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K395fs|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K395fs Q2TB10 ZN800_HUMAN zinc finger protein 800 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TATTAGGGCCTTTTTCTCTTT 0.358 7 493 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 8 431 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 7 56 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35608248 35608248 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:35608248delT ENST00000287272.2 + 12 1897 c.1877delT c.(1876-1878)gtfs p.V626fs UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 695 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAGGTGGCGGTTTTTGGCTGC 0.488 8 832 --- --- --- --- GPR124 25960 broad.mit.edu 37 8 37693141 37693141 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:37693141delC ENST00000412232.2 + 13 1916 c.1903delC c.(1903-1905)ccfs p.P636fs GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 636 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGCCCTGGCTCCCCCGGTGCC 0.662 7 1760 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 7 849 --- --- --- --- ADAM9 8754 broad.mit.edu 37 8 38880792 38880793 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:38880792_38880793insG ENST00000487273.2 + 9 940_941 c.862_863insG c.(862-864)ggafs p.G288fs NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 288 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) CGTGCAGTGGCGGGAAAAGTTT 0.396 8 440 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 8 919 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 807 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr8:73480397delA ENST00000523207.1 + 2 1016 c.428delA c.(427-429)cafs p.Q143fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 143 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.E146fs*3(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGATATCATCAAAAAAAAGAA 0.448 9 768 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development 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 endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 19 376 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35555384 35555384 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:35555384delC ENST00000455600.1 + 3 2911 c.2342delC c.(2341-2343)tcfs p.S781fs NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 781 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GGCAGCTACTCCCCCATCCGG 0.662 9 2177 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39149853 39149853 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:39149853delC ENST00000297668.6 - 10 1672 c.1599delG c.(1597-1599)gcfs p.A533fs CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 533 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTCCCCAGCGCCCCCTGCT 0.542 8 83 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 12 445 --- --- --- --- CNTRL 11064 broad.mit.edu 37 9 123875985 123875985 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:123875985delA ENST00000373855.1 + 10 1588 c.1328delA c.(1327-1329)gafs p.E443fs CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E443fs|CNTRL_ENST00000373865.2_Frame_Shift_Del_p.E443fs Q7Z7A1 CNTRL_HUMAN centriolin 443 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GAAGACAAAGAAAAAAAAATA 0.318 8 292 --- --- --- --- NUP188 23511 broad.mit.edu 37 9 131750436 131750436 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:131750436delC ENST00000372577.2 + 24 2525 c.2504delC c.(2503-2505)tcfs p.S835fs NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 835 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 AATGTGGTGTCCCCCCTGGAA 0.473 8 1058 --- --- --- --- CRAT 1384 broad.mit.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:131864814delC ENST00000318080.2 - 5 789 c.495delG c.(493-495)ggfs p.G165fs CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 165 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) ACAGTGGCTTCCCCCCCAGGT 0.607 7 1839 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 290 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 13 369 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 9 207 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81056295 81056295 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:81056295delC ENST00000334512.5 + 13 1870 c.1298delC c.(1297-1299)gcfs p.A433fs ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 433 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAGTACCCAGCCCCCAACCCC 0.637 7 968 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 1648 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768708 90768708 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:90768708delT ENST00000355740.2 + 4 617 c.397delT c.(397-399)ttfs p.F134fs FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 134 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAAACCAAACTTTTTTTGTAA 0.368 10 2839 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 15 1218 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102789811 102789811 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:102789811delG ENST00000370215.3 - 2 391 c.166delC c.(166-168)gcfs p.R56fs PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 56 cilium|nucleus protein binding p.R56C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGGATTCCGCGGGGGGGCCCG 0.667 9 686 --- --- --- --- POLL 27343 broad.mit.edu 37 10 103345131 103345133 + In_Frame_Del DEL GGA GGA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:103345131_103345133delGGA ENST00000370162.3 - 4 1007_1009 c.513_515delTCC c.(511-516)ccc>cc p.PP171del POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 171 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGGCCTGGTGGGAGGAGGAGGAG 0.591 DNA polymerases (catalytic subunits) 8 436 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 7 688 --- --- --- --- C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:118424338delT ENST00000369210.3 - 4 449 c.395delA c.(394-396)acfs p.N132fs C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 132 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CTTGTAGCAGTTTTTGGCCAT 0.567 7 771 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123970380 123970380 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:123970380delC ENST00000369005.1 + 9 6780 c.6440delC c.(6439-6441)acfs p.T2147fs TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2147 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCCACAGAGACCCCCCCAGTG 0.522 8 1370 --- --- --- --- HMX2 3167 broad.mit.edu 37 10 124909413 124909414 + Frame_Shift_Ins INS - - C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr10:124909413_124909414insC ENST00000339992.3 + 2 853_854 c.596_597insC c.(595-597)acgfs p.T199fs NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 199 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) TGGTTCCAGAACCGCCGCAACA 0.649 9 187 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 12 785 --- --- --- --- CDHR5 53841 broad.mit.edu 37 11 618807 618807 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:618807delG ENST00000358353.3 - 14 2074 c.1752delC c.(1750-1752)ccfs p.P584fs CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P584fs Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 584 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TTCCCATACTGGGGGGCATCG 0.677 8 940 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 17 642 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316344 12316345 + In_Frame_Ins INS - - CTC rs3841216 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:12316344_12316345insCTC ENST00000256186.2 + 3 1657_1658 c.1366_1367insCTC c.(1366-1368)tcc>CTCtcc p.455_456insL NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 455 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GCGCCAGGCAGctcctcctcct 0.604 13 186 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 8 341 --- --- --- --- ADRBK1 156 broad.mit.edu 37 11 67052434 67052435 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:67052434_67052435insG ENST00000308595.5 + 19 2061_2062 c.1771_1772insG c.(1771-1773)gggfs p.G591fs ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 591 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CCTCGAGTGGCGGGGCGAGGGC 0.688 11 189 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102743846 102743847 + RNA INS - - A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:102743846_102743847insA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGTATCTCTGGAAAAAAAAATA 0.332 7 112 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 8 916 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 8 1201 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129827738 129827738 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr11:129827738delG ENST00000358825.5 - 3 368 c.137delC c.(136-138)cafs p.P46fs PRDM10_ENST00000360871.3_Frame_Shift_Del_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.P46fs NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CACCTGCTGTGGGGGGCGAAC 0.547 7 1474 --- --- --- --- TEAD4 7004 broad.mit.edu 37 12 3131163 3131163 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:3131163delT ENST00000359864.2 + 10 1067 c.877delT c.(877-879)ttfs p.F294fs TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs|TEAD4_ENST00000397122.2_Frame_Shift_Del_p.F165fs NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 294 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CTCCAATGCCTTTTTTCTTGT 0.542 8 847 --- --- --- --- TAS2R42 353164 broad.mit.edu 37 12 11338799 11338799 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:11338799delA ENST00000334266.1 - 1 744 c.745delT c.(745-747)ccfs p.S249fs NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 249 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) ACTTGTAAGGAAAAAAAATGA 0.423 7 383 --- --- --- --- RERG 85004 broad.mit.edu 37 12 15262412 15262412 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:15262412delC ENST00000256953.2 - 5 568 c.232delG c.(232-234)aafs p.E78fs RERG_ENST00000538313.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000536465.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000546331.1_Frame_Shift_Del_p.E59fs NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 78 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 ACAAAGCCTTCCCCCCATCGC 0.458 7 2284 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 9 1680 --- --- --- --- ESPL1 9700 broad.mit.edu 37 12 53663328 53663328 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:53663328delC ENST00000257934.4 + 3 693 c.602delC c.(601-603)gcfs p.A201fs ESPL1_ENST00000552462.1_Frame_Shift_Del_p.A201fs NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 201 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCGGTAGCTGCCCATCAGCTA 0.527 8 1990 --- --- --- --- TSFM 10102 broad.mit.edu 37 12 58177051 58177052 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:58177051_58177052insG ENST00000454289.3 + 2 429_430 c.216_217insG c.(214-219)gggggafs p.GG72fs TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 72 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGACTTGTGGCGGGGACCTCAA 0.569 9 1061 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 7 160 --- --- --- --- RASAL1 8437 broad.mit.edu 37 12 113565943 113565943 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:113565943delC ENST00000546530.1 - 4 448 c.163delG c.(163-165)agfs p.E56fs RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 56 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GTGTACTCCTCCCCCCAGAAG 0.617 7 1787 --- --- --- --- CCDC60 160777 broad.mit.edu 37 12 119942961 119942961 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:119942961delG ENST00000327554.2 + 7 1201 c.736delG c.(736-738)ggfs p.G247fs RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 247 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TCGGGCCAGTGGGGGGTCCTC 0.562 7 996 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 10 641 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 63 342 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 14 25 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 7 288 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 8 630 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 8 1012 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr13:108518338delC ENST00000375915.2 - 1 745 c.607delG c.(607-609)acfs p.D203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCCTGCCCGTCCCCCCCGGCC 0.607 10 845 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 8 716 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 8 737 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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 endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 8 263 --- --- --- --- RIN3 79890 broad.mit.edu 37 14 93118772 93118772 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr14:93118772delC ENST00000216487.7 + 6 1537 c.1378delC c.(1378-1380)ccfs p.P461fs RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 461 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCCAGTCCCGCCCCCCAGGAA 0.622 8 752 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23021238 23021239 + Frame_Shift_Ins INS - - T rs145147241 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:23021238_23021239insT ENST00000337451.3 - 4 710_711 c.98_99insA c.(97-99)aggfs p.R33fs NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 33 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GAAGGAGGCCCTTTTTTTTCAA 0.450 8 617 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 15 939 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 10 364 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)afs p.R678fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 8 713 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:64967247delA ENST00000326648.3 + 4 2322 c.2194delA c.(2194-2196)aafs p.K735fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 735 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAGAAAGACAAAAAAAAGAA 0.488 12 1101 --- --- --- --- MESDC2 23184 broad.mit.edu 37 15 81281974 81281976 + In_Frame_Del DEL CTT CTT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:81281974_81281976delCTT ENST00000261758.4 - 1 243_245 c.157_159delAAG c.(157-159)del p.K53del NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 53 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 CGCGAATATCCTTCTTCTTCTTC 0.655 7 430 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 8 327 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89876828 89876830 + In_Frame_Del DEL TGC TGC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr15:89876828_89876830delTGC ENST00000268124.5 - 2 489_491 c.156_158delGCA c.(154-159)caa>ca p.QQ54del POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 54 Poly-Gln. base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) aggctgctgttgctgctgctgct 0.690 DNA polymerases (catalytic subunits) 8 142 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3817721 3817721 + Splice_Site DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:3817721delT ENST00000262367.5 - 16 4059 c.3250_splice c.e16+1 p.I1084_splice CREBBP_ENST00000382070.3_Splice_Site_p.I1046_splice NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1084 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AATGGCCTACTTTTTTTGCGC 0.398 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 9 484 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:19722724delT ENST00000219837.7 - 3 1035 c.957delA c.(955-957)aafs p.K319fs AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.G320fs*5(1)|p.K319N(1) CCATGTTGCCTTTTTTTTCCA 0.562 7 771 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 8 786 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:24942180delG ENST00000289968.6 - 19 2509 c.2440delC c.(2440-2442)aafs p.Q814fs ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CCAGGAGGTTGGGGGGGTGGG 0.577 10 1077 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 15 351 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 8 29 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 27 999 --- --- --- --- INCA1 388324 broad.mit.edu 37 17 4892795 4892795 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:4892795delC ENST00000396829.2 - 7 889 c.323delG c.(322-324)gafs p.G108fs INCA1_ENST00000355025.3_Frame_Shift_Del_p.G93fs|INCA1_ENST00000575780.1_Frame_Shift_Del_p.G93fs|INCA1_ENST00000574617.1_Frame_Shift_Del_p.G108fs|INCA1_ENST00000576820.1_Frame_Shift_Del_p.G108fs NM_001167986.1 NP_001161458.1 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 1 108 nucleus upper_aerodigestive_tract(1) 1 GGCGGGGACTCCCCCAAGGCC 0.572 7 1301 --- --- --- --- GIT1 28964 broad.mit.edu 37 17 27903281 27903281 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:27903281delG ENST00000225394.3 - 14 1816 c.1568delC c.(1567-1569)ctfs p.P523fs RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 523 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) CTCGTCCCCAGGGGGGCCCCC 0.652 7 809 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 360 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 9 344 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37687472 37687472 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:37687472delG ENST00000447079.4 + 14 4409 c.4376delG c.(4375-4377)tgfs p.W1459fs CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1459 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GGCCTTCACTGGGGGGGCCCA 0.562 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 7 562 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000412523.2_Intron NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 8 347 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:45219355delC ENST00000066544.3 - 12 1508 c.1415delG c.(1414-1416)gtfs p.G472fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGCTAAATAACCTTTCCCCAT 0.368 11 648 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 5 9 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 8 523 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62496298 62496298 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:62496298delT ENST00000225792.5 - 13 1989 c.1588delA c.(1588-1590)ctfs p.T530fs DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 530 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCATTCTGAGTTTTTGCCCCA 0.413 T ETV4 prostate 8 997 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 7 703 --- --- --- --- CARD14 79092 broad.mit.edu 37 17 78172300 78172301 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr17:78172300_78172301insG ENST00000573882.1 + 15 2297_2298 c.1761_1762insG c.(1759-1764)ggggaafs p.E588fs CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.E351fs|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.E588fs Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 588 PDZ. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCGTCATCGGCGGGAACCTCAC 0.678 13 646 --- --- --- --- CYP4F3 4051 broad.mit.edu 37 19 15769322 15769322 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:15769322delT ENST00000221307.7 + 11 1319 c.1271delT c.(1270-1272)gtfs p.V424fs CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 424 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CTCATCAGTGTTTTTGGAACC 0.622 9 1511 --- --- --- --- CIB3 117286 broad.mit.edu 37 19 16275653 16275654 + Frame_Shift_Ins INS - - C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:16275653_16275654insC ENST00000269878.4 - 5 466_467 c.417_418insG c.(415-420)ggtgagfs p.E140fs CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 140 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 TCGGCACTCAGCCCCCCCCGCG 0.564 10 657 --- --- --- --- MYO9B 4650 broad.mit.edu 37 19 17311567 17311568 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:17311567_17311568insG ENST00000595618.1 + 26 4644_4645 c.4492_4493insG c.(4492-4494)ggafs p.G1498fs MYO9B_ENST00000594824.1_Frame_Shift_Ins_p.G1498fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.G1498fs NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1498 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGAGAAGTGGCGGGAATCGGTG 0.559 13 779 --- --- --- --- C19orf12 83636 broad.mit.edu 37 19 30193878 30193879 + Frame_Shift_Ins INS - - C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:30193878_30193879insC ENST00000323670.9 - 3 305_306 c.166_167insG c.(166-168)tgtfs p.C56fs C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs NM_001256047.1|NM_031448.4 NP_001242976.1|NP_113636.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 56 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) CCCCCCGACAGCCCCCCCTAGA 0.525 8 771 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 13 1163 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753020 42753021 + Frame_Shift_Ins INS - - C rs139842507 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:42753020_42753021insC ENST00000222329.4 - 4 1400_1401 c.1243_1244insG c.(1243-1245)gctfs p.A415fs ERF_ENST00000440177.2_Frame_Shift_Ins_p.A340fs|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 415 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) TGGGGCTAGCGCCCCTGCCCCC 0.688 9 502 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 9 138 --- --- --- --- CGB 1082 broad.mit.edu 37 19 49526203 49526203 + Frame_Shift_Del DEL G G - rs17852109 byFrequency TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:49526203delG ENST00000357383.4 - 3 799 c.438delC c.(436-438)ccfs p.P146fs NM_000737.3 NP_000728.1 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 146 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity large_intestine(1) 1 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) TTGGAAGGCTGGGGGGAGGGG 0.647 10 773 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 10 300 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 9 481 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 10 370 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 7 963 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21196122 21196122 + RNA DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:21196122delA ENST00000591761.1 - 0 119 RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA TACATTAACCAAAAAAAAAAA 0.244 7 18 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 8 506 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 13 1851 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:45875072delT ENST00000311275.7 - 14 2157 c.1904delA c.(1903-1905)agfs p.K635fs ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 635 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AGGCTTGGGCTTTTTTTTAAC 0.488 8 918 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 8 103 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 8 406 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18301214 18301214 + Frame_Shift_Del DEL G G - rs143411730 by1000genomes TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:18301214delG ENST00000441493.2 - 26 4565 c.4213delC c.(4213-4215)ggfs p.R1405fs NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1405 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GACGGGGACCGGGGGGTTGGC 0.667 8 850 --- --- --- --- NEFH 4744 broad.mit.edu 37 22 29885599 29885604 + In_Frame_Del DEL AGGAAG AGGAAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:29885599_29885604delAGGAAG ENST00000310624.6 + 4 2003_2008 c.1970_1975delAGGAAG c.(1969-1977)aag>a p.KEE657del NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 663 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TCCCCAGAGAAGGAAGAGGCCAAGTC 0.558 7 717 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 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) AATCCCAGAGCCTCCTCTCCCAG 0.601 15 929 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 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) AATCCCAGAGCCTCCTCTCCCAA 0.596 19 1908 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38897210 38897211 + Frame_Shift_Ins INS - - T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chr22:38897210_38897211insT ENST00000396821.3 - 2 461_462 c.362_363insA c.(361-363)atgfs p.M121fs DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.M42fs NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 42 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) TCAAATCCCACTTTTTTTTACG 0.421 8 231 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 12 383 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 9 220 --- --- --- --- SSX9 0 broad.mit.edu 37 X 48159108 48159108 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:48159108delG ENST00000376909.1 - 6 487 c.425delC c.(424-426)cgfs p.P142fs SSX9_ENST00000407081.2_Frame_Shift_Del_p.P142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TGGTTTTCCCGGGGGGCACAG 0.488 7 1404 --- --- --- --- AR 367 broad.mit.edu 37 X 66765159 66765167 + In_Frame_Del DEL GCAGCAGCA GCAGCAGCA - rs72181988 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:66765159_66765167delGCAGCAGCA ENST00000374690.3 + 1 695_703 c.171_179delGCAGCAGCA c.(169-180)ctg>ct p.LQQQ57del AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 57 Modulating.|Poly-Leu. L -> Q (in prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TGCTGCTGCTgcagcagcagcagcagcag 0.665 Androgen Insensitivity Syndrome 16 178 --- --- --- --- EDA 1896 broad.mit.edu 37 X 68836236 68836237 + Frame_Shift_Ins INS - - G rs41539891 TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:68836236_68836237insG ENST00000374552.4 + 1 326_327 c.84_85insG c.(82-87)gggggcfs p.GG28fs EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 28 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GCGGGTGTGGCGGGGCCCCTGC 0.708 7 239 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 9 396 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135455156 135455156 + Frame_Shift_Del DEL G G - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:135455156delG ENST00000394143.1 + 15 8000 c.7709delG c.(7708-7710)cgfs p.R2570fs GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2570 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R2570L(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCTGTGCTGCGGGGGGACCAC 0.532 8 2089 --- --- --- --- MCF2 4168 broad.mit.edu 37 X 138697052 138697052 + Frame_Shift_Del DEL A A - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:138697052delA ENST00000520602.1 - 13 1816 c.1531delT c.(1531-1533)cafs p.S512fs MCF2_ENST00000370576.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370573.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000536274.1_Frame_Shift_Del_p.S413fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.S597fs|MCF2_ENST00000338585.6_Frame_Shift_Del_p.S452fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000519895.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000414978.1_Frame_Shift_Del_p.S512fs P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 452 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TGTTTAGATGAAAAAAATGGT 0.368 7 881 --- --- --- --- PNMA3 29944 broad.mit.edu 37 X 152225996 152225997 + Frame_Shift_Ins INS - - G TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:152225996_152225997insG ENST00000447306.1 + 2 920_921 c.584_585insG c.(583-585)cgtfs p.R195fs PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 195 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) cagatgtggcaggtgcccgagg 0.574 7 897 --- --- --- --- HCFC1 3054 broad.mit.edu 37 X 153216342 153216342 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:153216342delC ENST00000310441.7 - 23 6591 c.5625delG c.(5623-5625)ggfs p.G1875fs HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs|HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1875 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTGAAGGGCCCCCGGCCAC 0.567 7 2015 --- --- --- --- TKTL1 8277 broad.mit.edu 37 X 153541044 153541044 + Frame_Shift_Del DEL C C - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39fccb1b-b1fb-4a1f-bb83-beaefa163ff1 6e08a2fc-e7b8-4811-a7c5-e676767d0e8a g.chrX:153541044delC ENST00000369915.3 + 6 973 c.784delC c.(784-786)ccfs p.P263fs TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Frame_Shift_Del_p.P207fs NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 263 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGACCCACAGCCCCCCATTGA 0.468 7 633 --- --- --- ---