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 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 13 340 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66036155 66036155 + Splice_Site SNP G G T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:66036155G>T ENST00000349533.6 + 4 225 c.e4-1 LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity p.?(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TATCCTAACAGAATTTATTTA 0.299000 5 156 0.184627 0.186306 1 1 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 6 184 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060380 111060380 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:111060380G>A ENST00000369771.2 - 1 1417 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 344 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.R344C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CTCACCAGGCGGATGATCCTC 0.577000 16 1067 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 6 163 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 7 257 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226180632 226180632 + Missense_Mutation SNP G G C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:226180632G>C ENST00000272091.7 - 3 328 c.310C>G c.(310-312)Ctc>Gtc p.L104V SDE2_ENST00000366817.1_Intron NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) CTTCCACTGAGATCCCGACAA 0.433000 5 238 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138387 126138387 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:126138387G>A ENST00000299308.3 + 9 2376 c.2368G>A c.(2368-2370)Gaa>Aaa p.E790K TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 790 integral to membrane p.E790K(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGTCAAATTCGAACCAAGTAG 0.423000 13 319 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38146147 38146147 + Nonsense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:38146147C>T ENST00000378505.2 - 15 2281 c.2105G>A c.(2104-2106)tGg>tAg p.W702* RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 691 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 cctcttcttccattcttcctt 0.542000 4 67 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73624802 73624802 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:73624802G>A ENST00000317905.5 - 17 2689 c.2530C>T c.(2530-2532)Ccc>Tcc p.P844S RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 844 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GCAGGGGTGGGCTGGACTTCA 0.652000 Other identified genes with known or suspected DNA repair function 12 447 0 0 1 0 0 LPPR4 0 broad.mit.edu 37 1 99772446 99772446 + Silent SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:99772446C>T ENST00000370185.3 + 7 2669 c.2172C>T c.(2170-2172)cgC>cgT p.R724R LPPR4_ENST00000370184.1_Silent_p.R566R|LPPR4_ENST00000457765.1_Silent_p.R666R NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 724 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CTTCTTCCCGCGACTCCACCC 0.507000 14 263 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538336 31538336 + Missense_Mutation SNP C C G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr18:31538336C>G ENST00000261592.5 - 7 1400 c.1103G>C c.(1102-1104)aGt>aCt p.S368T NOL4_ENST00000535475.1_Missense_Mutation_p.S213T|NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 368 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCGGTCTACACTCTCATTTTT 0.443000 25 848 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189927907 189927907 + Missense_Mutation SNP T T A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:189927907T>A ENST00000374866.3 - 27 2134 c.1860A>T c.(1858-1860)aaA>aaT p.K620N NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 620 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CACTGCTACCTTTGGGGCCTG 0.502000 26 977 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111870079 111870079 + Silent SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr13:111870079C>T ENST00000375741.2 + 6 835 c.585C>T c.(583-585)ttC>ttT p.F195F ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000375739.2_Silent_p.F145F NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 195 SH3. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AGTTTAACTTCCAGCAGACCA 0.478000 16 571 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99941732 99941732 + Missense_Mutation SNP T T C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:99941732T>C ENST00000455616.1 - 13 1577 c.1231A>G c.(1231-1233)Aga>Gga p.R411G SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.R411G|SYTL4_ENST00000372989.1_Missense_Mutation_p.R411G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R413G|SYTL4_ENST00000263033.5_Missense_Mutation_p.R411G Q96C24 SYTL4_HUMAN synaptotagmin-like 4 411 C2 1. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGTTTTTCTTTTTCCTTGG 0.443000 3 90 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984838 110984838 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:110984838C>T ENST00000524391.1 - 3 1672 c.640G>A c.(640-642)Gtc>Atc p.V214I KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 214 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.V214I(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ATGGAGATGACGCCAAAGATA 0.517000 10 350 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154920764 154920764 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:154920764C>T ENST00000368463.3 - 6 559 c.488G>A c.(487-489)cGg>cAg p.R163Q PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q|PBXIP1_ENST00000498553.1_5'UTR NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 163 Poly-Arg. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTCCCGGCCCCGCCGTCTCCG 0.687000 6 100 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976561 34976561 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:34976561C>T ENST00000242315.3 + 5 755 c.673C>T c.(673-675)Cgt>Tgt p.R225C KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 225 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) GGACTTTCTGCGTTACCGCCA 0.647000 24 411 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 6 148 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 23 96 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159888604 159888604 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:159888604G>A ENST00000368097.4 - 5 896 c.586C>T c.(586-588)Cgc>Tgc p.R196C TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 196 muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGATCTGGCGTGGCATCCCG 0.552000 21 869 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(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 0.527000 T MLL ALL 12 308 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850606 35850606 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:35850606G>A ENST00000327809.4 + 2 1015 c.814G>A c.(814-816)Gac>Aac p.D272N FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 272 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTCCTGTGTCGACCCCTTTGT 0.592000 21 1537 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15495398 15495398 + Missense_Mutation SNP C C A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:15495398C>A ENST00000383788.5 - 16 1361 c.1236G>T c.(1234-1236)gaG>gaT p.E412D COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 412 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CCTCCACACCCTCATGCCGGT 0.587000 4 156 0.00909568 0.00943571 1 1 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 23 90 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 12 800 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3670268 3670268 + Missense_Mutation SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:3670268A>G ENST00000344754.4 - 19 4975 c.4976T>C c.(4975-4977)cTg>cCg p.L1659P SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1659 cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCAGGCCCCCAGGCCCAACAG 0.652000 3 59 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766675 77766675 + Silent SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:77766675A>G ENST00000521891.2 + 10 7966 c.7518A>G c.(7516-7518)gaA>gaG p.E2506E ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E|ZFHX4_ENST00000455469.2_Silent_p.E2461E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2461 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAACTCTGGAACTCTGGCAGG 0.478000 HNSCC(33;0.089) 23 860 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236957825 236957825 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:236957825G>A ENST00000409538.1 + 15 3146 c.2650G>A c.(2650-2652)Gag>Aag p.E884K AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E672K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 672 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CTGGCCAGTCGAGCTCATCAA 0.582000 11 694 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31526591 31526591 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:31526591G>A ENST00000511367.2 - 4 693 c.449C>T c.(448-450)tCc>tTc p.S150F DROSHA_ENST00000344624.3_Missense_Mutation_p.S150F|DROSHA_ENST00000513349.1_Missense_Mutation_p.S150F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S150F NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 150 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 ATGAGGCATGGAGGGAGGGGG 0.572000 8 182 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47296667 47296667 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:47296667C>T ENST00000342922.4 + 3 973 c.616C>T c.(616-618)Cgc>Tgc p.R206C MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000311027.5_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 206 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTGTAGTGAGCGCCTTCTGGG 0.522000 13 521 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44479374 44479374 + Silent SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr21:44479374G>A ENST00000398165.3 - 13 1444 c.1185C>T c.(1183-1185)ggC>ggT p.G395G CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 395 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CCTTCAGAAAGCCCTTCTGCA 0.677000 17 612 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 24 179 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67187404 67187404 + Missense_Mutation SNP G G T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:67187404G>T ENST00000269081.4 - 18 2833 c.1924C>A c.(1924-1926)Cag>Aag p.Q642K ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 642 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) GGAATGTGCTGCTTAATAAGG 0.343000 4 128 1 1 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 11 374 0 0 1 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 6 88 0 0 1 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14205111 14205111 + Silent SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:14205111G>A ENST00000360954.2 + 1 712 c.276G>A c.(274-276)gcG>gcA p.A92A NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 92 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CGTTCCGGGCGCCGCCAGCCA 0.751000 3 39 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 13 723 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 27 297 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021748 5021748 + Silent SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:5021748C>T ENST00000382545.3 + 2 2311 c.1204C>T c.(1204-1206)Ctg>Ttg p.L402L KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 402 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AACAATTGCCCTGCCCGTACC 0.517000 121 2323 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042501 49042501 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:49042501G>A ENST00000358295.5 + 2 359 c.184G>A c.(184-186)Gcg>Acg p.A62T FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A69T NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 69 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) CGCCCGCTGTGCGTGTAGAAA 0.706000 6 177 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 7 162 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 18 206 0 0 1 0 0 ZNF195 0 broad.mit.edu 37 11 3380510 3380510 + Silent SNP T T C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:3380510T>C ENST00000354599.6 - 4 1616 c.1512A>G c.(1510-1512)aaA>aaG p.K504K ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGTTTCTCTCCAG 0.393000 8 361 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102778797 102778797 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:102778797G>A ENST00000370215.3 - 8 1331 c.1106C>T c.(1105-1107)gCc>gTc p.A369V NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 369 cilium|nucleus protein binding 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) CGTCTGCATGGCTGTGTCCGC 0.741000 OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 52 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1405435 1405435 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:1405435C>T ENST00000381312.1 - 3 1190 c.865G>A c.(865-867)Ggg>Agg p.G289R NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 289 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding p.G289R(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TAGCGCAGCCCGGCGCGCAGG 0.771000 5 51 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 172 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 6 205 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102047562 102047562 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr13:102047562G>A ENST00000251127.6 - 3 344 c.263C>T c.(262-264)gCa>gTa p.A88V NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 88 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTGCATTTTTGCTATCATCTC 0.388000 7 383 0 0 1 0 0 RP11-726G1.1 0 broad.mit.edu 37 12 9713438 9713438 + RNA SNP T T C rs76076453 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:9713438T>C ENST00000520314.1 + 0 633 TTTTAAGACATTGGAGAGAAT 0.353000 7 28 0 0 1 0 0 RPL11 6135 broad.mit.edu 37 1 24022341 24022341 + Nonsense_Mutation SNP C C A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:24022341C>A ENST00000374550.3 + 5 495 c.450C>A c.(448-450)tgC>tgA p.C150* RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 150 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GGACAGGCTGCATTGGGGCCA 0.517000 3 74 0.115264 0.118466 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 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.Q204Q(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 agcaacaacagcagcagcagc 0.498000 7 303 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128350393 128350393 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:128350393C>T ENST00000389524.4 + 17 2070 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R673W Q6PIF6 MYO7B_HUMAN myosin VIIB 673 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCTGTGCCTGCGGCAGCTGCG 0.672000 5 129 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169098083 169098083 + Splice_Site SNP A A T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:169098083A>T ENST00000256935.8 + 5 306 c.224_splice c.e5-1 p.N76_splice NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 76 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTAAATAGAAATACTGAGAA 0.443000 6 271 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 16 922 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28343119 28343119 + Missense_Mutation SNP C C A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:28343119C>A ENST00000337532.5 - 18 1882 c.1606G>T c.(1606-1608)Ggt>Tgt p.G536C MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000375732.1_Missense_Mutation_p.G536C|MPP7_ENST00000540098.1_Missense_Mutation_p.G536C NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 536 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AAAAGATGACCATATTGACTT 0.318000 4 71 0.150653 0.153418 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 110 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140637837 140637837 + Missense_Mutation SNP G G T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:140637837G>T ENST00000460843.1 + 5 865 c.838G>T c.(838-840)Gtt>Ttt p.V280F EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 280 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding p.V249F(2)|p.V280F(2) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) cttgccttttgttttAGCAGC 0.358000 12 83 6.94344e-10 7.48274e-10 1 1 0 HERC2 8924 broad.mit.edu 37 15 28413594 28413594 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:28413594C>T ENST00000261609.7 - 67 10480 c.10372G>A c.(10372-10374)Gaa>Aaa p.E3458K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3458 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGTCTGTCTTCGATATCAACA 0.502000 15 976 0 0 1 0 0 GPR126 0 broad.mit.edu 37 6 142691373 142691373 + Missense_Mutation SNP T T C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:142691373T>C ENST00000230173.6 + 4 988 c.512T>C c.(511-513)gTt>gCt p.V171A GPR126_ENST00000367608.2_Missense_Mutation_p.V171A|GPR126_ENST00000367609.3_Missense_Mutation_p.V171A|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.V171A NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 171 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CAGGTATCTGTTGCAAAAAGC 0.423000 4 159 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56825369 56825369 + Missense_Mutation SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:56825369C>T ENST00000229201.4 - 8 858 c.704G>A c.(703-705)gGa>gAa p.G235E TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G236E NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 236 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CTGCCCTACTCCCGCCAGCTG 0.547000 18 356 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138413373 138413373 + Silent SNP T T C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:138413373T>C ENST00000263598.2 + 1 90 c.30T>C c.(28-30)ctT>ctC p.L10L LCN1_ENST00000371781.3_Silent_p.L10L NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 10 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity p.L10L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CCGTCAGCCTTGGCCTCATTG 0.667000 5 241 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114354996 114354996 + RNA SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:114354996G>A ENST00000538033.2 + 0 2001 CTTGGACACAGTAAGCTTCCC 0.652000 7 34 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46543773 46543773 + Missense_Mutation SNP T T A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr13:46543773T>A ENST00000242848.4 - 14 3254 c.2906A>T c.(2905-2907)aAa>aTa p.K969I ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 969 Lys-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTCTTTCTTTTTCTTAATTGG 0.363000 10 400 0 0 1 0 0 PFKFB1 5207 broad.mit.edu 37 X 54987327 54987327 + Nonsense_Mutation SNP G G A rs147665375 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:54987327G>A ENST00000375006.3 - 3 317 c.247C>T c.(247-249)Cga>Tga p.R83* PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18* NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 83 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 ACTGCCTCTCGTCGATACTGG 0.468000 6 176 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 12 260 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124399679 124399679 + Missense_Mutation SNP G G A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:124399679G>A ENST00000338354.3 + 52 6785 c.6679G>A c.(6679-6681)Gac>Aac p.D2227N DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2227 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CACCTGGGTCGACACCATGTA 0.478000 17 813 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237387 140237387 + Missense_Mutation SNP T T G rs251364 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:140237387T>G ENST00000307360.5 + 1 1754 c.1754T>G c.(1753-1755)gTt>gGt p.V585G PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTCGGTGGTTGCGGGTCAC 0.662000 9 317 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 13 77 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688587 1688588 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:1688587_1688588insC ENST00000344463.4 - 6 958_959 c.737_738insG c.(736-738)ggcfs p.G246fs NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000342348.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CTCCATGTGCACCCCAGGCCCC 0.634 10 159 --- --- --- --- NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000342348.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TGTGCACCCCAGGCCCCCTTCCC 0.626 12 198 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 881 --- --- --- --- TAS1R1 0 broad.mit.edu 37 1 6638843 6638845 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:6638843_6638845delGCT ENST00000333172.6 + 6 1918_1920 c.1725_1727delGCT c.(1723-1728)acg>ac p.TL575del TAS1R1_ENST00000351136.3_In_Frame_Del_p.TL321del|TAS1R1_ENST00000328191.4_In_Frame_Del_p.RC464del NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 575 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CAGCTAACACgctgctgctgctg 0.611 10 338 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del|CLSTN1_ENST00000477264.1_5'UTR NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 957 Glu-rich (highly acidic). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCCTGCTCCCCCTCCTCCTCCTC 0.645 10 752 --- --- --- --- HNRNPCL1 343069 broad.mit.edu 37 1 12907739 12907741 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:12907739_12907741delGGA ENST00000317869.6 - 2 627_629 c.402_404delTCC c.(400-405)ccc>cc p.PP134del NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CAGAGCAATGGGAGGAGGAGGAG 0.502 7 801 --- --- --- --- ATP13A2 23400 broad.mit.edu 37 1 17313000 17313002 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:17313000_17313002delCAG ENST00000452699.1 - 28 3535_3537 c.3346_3348delCTG c.(3346-3348)del p.L1116del RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000326735.8_In_Frame_Del_p.L1121del NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 1121 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TGACCAGACCCAGCAGCAGCAGC 0.675 7 511 --- --- --- --- LDLRAP1 26119 broad.mit.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - rs6687605 byFrequency TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:25889632delT ENST00000374338.4 + 6 723 c.604delT c.(604-606)ccfs p.S202fs LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 202 S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions).|S -> P (in dbSNP:rs6687605). amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CTGCACCCCCTCCTTGAAGAG 0.637 8 556 --- --- --- --- RPS6KA1 6195 broad.mit.edu 37 1 26885311 26885311 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:26885311delC ENST00000374168.2 + 14 1252 c.1098delC c.(1096-1098)atfs p.I366fs RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 366 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CCCCAGGCATCCCCCCCAGCG 0.672 8 955 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - rs140055856 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:27105931delG ENST00000324856.7 + 20 5913 c.5542delG c.(5542-5544)ggfs p.G1849fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1466fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G177fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1632fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1849 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 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) GCGGATTGGTGGGGGGGACAC 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 9 995 --- --- --- --- WASF2 10163 broad.mit.edu 37 1 27736326 27736328 + In_Frame_Del DEL GGA GGA - rs150974534 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:27736326_27736328delGGA ENST00000430629.2 - 8 1412_1414 c.1197_1199delTCC c.(1195-1200)ccg>cc p.PP399del WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 399 Poly-Pro. actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AGGGGGCCCCggaggaggaggag 0.640 9 397 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1091 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGGGCTGGAaggaggaggagga 0.665 7 269 --- --- --- --- XKR8 55113 broad.mit.edu 37 1 28293145 28293147 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:28293145_28293147delCTG ENST00000373884.5 + 3 1230_1232 c.622_624delCTG c.(622-624)del p.L211del XKR8_ENST00000481387.1_3'UTR NM_018053.2 NP_060523.2 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related family, member 8 211 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) CCTGTGGAACCTGCTGCTGCTGT 0.665 8 1141 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 20 1254 --- --- --- --- PABPC4 8761 broad.mit.edu 37 1 40028016 40028016 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:40028016delG ENST00000372857.3 - 13 2485 c.1693delC c.(1693-1695)agfs p.Q565fs PABPC4_ENST00000372856.3_Frame_Shift_Del_p.Q552fs|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.Q581fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.Q536fs NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 565 PABC. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTGTTCCTGGGGGGGTGCT 0.602 11 882 --- --- --- --- GUCA2B 2981 broad.mit.edu 37 1 42619173 42619175 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:42619173_42619175delCTG ENST00000372581.1 + 1 82_84 c.52_54delCTG c.(52-54)del p.L21del NM_007102.2 NP_009033.1 Q16661 GUC2B_HUMAN guanylate cyclase activator 2B (uroguanylin) 21 excretion extracellular region calcium sensitive guanylate cyclase activator activity breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGTGGTCCTCCTGCTGCTGCTGC 0.650 7 380 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 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) GAGAGGAGCAGCGGCGGCGGCGG 0.631 11 857 --- --- --- --- RP5-1198O20.4 0 broad.mit.edu 37 1 44570056 44570058 + RNA DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:44570056_44570058delCTG ENST00000434244.1 + 0 2053_2055 TCCCAGCCGTCTGCTGCTGCTGC 0.576 9 558 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65306996 65306997 + Frame_Shift_Ins INS - - T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:65306996_65306997insT ENST00000342505.4 - 19 2828_2829 c.2580_2581insA c.(2578-2583)aacagcfs p.NS860fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 860 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGTTGCTGGTTTTTTTTCTG 0.470 Mis ALL 12 654 --- --- --- --- ANKRD13C 81573 broad.mit.edu 37 1 70819873 70819873 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:70819873delG ENST00000370944.4 - 1 532 c.219delC c.(217-219)ccfs p.P73fs ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.P73fs NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 73 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 CCGGGGCGCCGGGGGGATTGG 0.637 7 1707 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 13 1271 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 7 362 --- --- --- --- CLCA4 22802 broad.mit.edu 37 1 87029432 87029432 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:87029432delA ENST00000370563.3 + 4 579 c.537delA c.(535-537)tcfs p.S179fs CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 179 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GTGCTAAGTCAAAAAAAATCG 0.403 9 287 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 16 201 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 15 712 --- --- --- --- PSMB4 5692 broad.mit.edu 37 1 151374040 151374040 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:151374040delA ENST00000290541.6 + 6 770 c.716delA c.(715-717)gafs p.E239fs NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 239 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACTGTCACCGAAAAAGGTGTT 0.443 11 1167 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152084208 152084210 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:152084208_152084210delCTC ENST00000368804.1 - 2 1482_1484 c.1483_1485delGAG c.(1483-1485)del p.E495del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 495 9 X 28 AA approximate 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) GCTCGCGCCTCTCCTCCTCCTCG 0.670 9 1050 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 7 118 --- --- --- --- FLAD1 80308 broad.mit.edu 37 1 154962050 154962050 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:154962050delA ENST00000368433.1 + 3 1475 c.1132delA c.(1132-1134)aafs p.K379fs FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 379 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.K378E(3) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTCTTTGGGGAAAAAGGTGGC 0.567 7 894 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156626160 156626160 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:156626160delG ENST00000329117.4 + 9 2365 c.2029delG c.(2029-2031)ggfs p.G678fs RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 678 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGGCTATGGGGGGGACCT 0.622 8 1236 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 14 1653 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 17 468 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 11 325 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 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 GGGGCTGCGTCCACCACCACCAC 0.601 15 1677 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276092 186276094 + In_Frame_Del DEL CCA CCA - rs112431404 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:186276092_186276094delCCA ENST00000445192.2 + 7 1286_1288 c.1241_1243delCCA c.(1240-1245)ccc>c p.PT414del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PT373del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT371del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT321del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 414 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 GAGCCTGCACCCACCACCACCAA 0.660 7 689 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 9 193 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202568423 202568425 + In_Frame_Del DEL TCT TCT - rs151217119 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:202568423_202568425delTCT ENST00000367267.1 - 8 1166_1168 c.974_976delAGA c.(973-978)aca>a p.KT325del SYT2_ENST00000367268.4_In_Frame_Del_p.KT325del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 325 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TTCACGGTTGTCTTCTTCTTCTT 0.547 7 960 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 10 743 --- --- --- --- REN 5972 broad.mit.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - rs142739309 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:204135375_204135377delAGC ENST00000367195.2 - 1 88_90 c.45_47delGCT c.(43-48)ctc>ct p.LL15del REN_ENST00000272190.8_In_Frame_Del_p.LL15del P00797 RENI_HUMAN renin 15 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGAGCCCCAGAGCAGCAGCAGCA 0.581 7 744 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 13 1106 --- --- --- --- HEATR1 55127 broad.mit.edu 37 1 236719142 236719142 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr1:236719142delA ENST00000366582.3 - 39 5726 c.5612delT c.(5611-5613)tcfs p.F1871fs HEATR1_ENST00000366581.2_Frame_Shift_Del_p.F1790fs NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1871 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGCTTCCAGGAAAAAGGCGGT 0.493 7 632 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 21 868 --- --- --- --- AC009499.1 0 broad.mit.edu 37 2 34065548 34065549 + RNA INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:34065548_34065549insC ENST00000366209.2 + 0 68 AGGACAGGACTCCCTGCTCCTT 0.500 8 740 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 12 292 --- --- --- --- SRBD1 55133 broad.mit.edu 37 2 45826821 45826821 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:45826821delT ENST00000263736.4 - 4 477 c.415delA c.(415-417)ccfs p.T139fs NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 139 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GCTTTGCTGGTTTCTTCTTCA 0.453 34 1146 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 9 1317 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74690035 74690035 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:74690035delG ENST00000233616.4 - 4 1043 c.881delC c.(880-882)ctfs p.P294fs MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 294 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GTAGCGTTCAGGGGGGGCCCC 0.587 9 1669 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 8 1067 --- --- --- --- SEMA4C 54910 broad.mit.edu 37 2 97526819 97526821 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:97526819_97526821delCAG ENST00000305476.5 - 15 2176_2178 c.2044_2046delCTG c.(2044-2046)del p.L682del NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 682 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 ATGACAGCACCAGCAGCAGCAGC 0.690 7 404 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 8 101 --- --- --- --- SLC9A2 6549 broad.mit.edu 37 2 103324746 103324746 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:103324746delC ENST00000233969.2 + 12 2379 c.2237delC c.(2236-2238)acfs p.T746fs NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 746 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ATGCCCAGCACCCCCCCAACA 0.527 8 1447 --- --- --- --- CLASP1 23332 broad.mit.edu 37 2 122125358 122125358 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:122125358delC ENST00000263710.4 - 35 4081 c.3692delG c.(3691-3693)gtfs p.G1231fs CLASP1_ENST00000397587.3_Frame_Shift_Del_p.G1171fs|CLASP1_ENST00000455322.2_Frame_Shift_Del_p.G1187fs|CLASP1_ENST00000541377.1_Frame_Shift_Del_p.G1170fs|CLASP1_ENST00000541859.1_Frame_Shift_Del_p.G948fs|CLASP1_ENST00000409078.3_Frame_Shift_Del_p.G1164fs|CLASP1_ENST00000545861.1_Frame_Shift_Del_p.G938fs NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1231 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TACTTCACTACCCCCCCGGCC 0.637 7 522 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128471200 128471200 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:128471200delG ENST00000322313.4 - 18 3423 c.3265delC c.(3265-3267)ggfs p.R1089fs NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1089 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCGGGATCCCGGGGGAAACGT 0.617 9 1678 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 16 357 --- --- --- --- RAPH1 65059 broad.mit.edu 37 2 204305088 204305090 + In_Frame_Del DEL GGT GGT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:204305088_204305090delGGT ENST00000319170.5 - 14 3122_3124 c.2823_2825delACC c.(2821-2826)cct>cc p.PP943del RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_In_Frame_Del_p.PP995del NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 943 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 tgtgggtggaggtggtggtggtg 0.606 7 437 --- --- --- --- ALPI 248 broad.mit.edu 37 2 233320926 233320928 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:233320926_233320928delTGC ENST00000295463.3 + 1 94_96 c.17_19delTGC c.(16-21)gtg>g p.VL6del NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 6 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGGCCCTGGGTGCTGCTGCTGCT 0.660 8 402 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233785144 233785146 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr2:233785144_233785146delCTC ENST00000264051.3 - 5 954_956 c.676_678delGAG c.(676-678)del p.E226del NGEF_ENST00000409079.1_In_Frame_Del_p.E134del|NGEF_ENST00000373552.4_In_Frame_Del_p.E134del NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 226 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGCTGGCCGGctcctcctcctcc 0.586 7 556 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 14 575 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 7 834 --- --- --- --- STAB1 23166 broad.mit.edu 37 3 52547907 52547908 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:52547907_52547908insC ENST00000321725.6 + 32 3433_3434 c.3357_3358insC c.(3355-3360)ctccccfs p.LP1119fs NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1119 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.R1122fs*37(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGGTCTTACTGCCCCCCCGAGG 0.624 10 2002 --- --- --- --- ITIH4 3700 broad.mit.edu 37 3 52847474 52847474 + Frame_Shift_Del DEL G G - rs140372968 byFrequency TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:52847474delG ENST00000266041.4 - 24 2852 c.2756delC c.(2755-2757)cgfs p.P919fs ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 919 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTCCACTCCCGGGGGCCCCTC 0.582 10 991 --- --- --- --- LINC00698 0 broad.mit.edu 37 3 63083094 63083096 + RNA DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:63083094_63083096delCTG ENST00000468072.1 + 0 125 NR_027104.1 TCCGAGCCGTCTGCTGCTGCTGC 0.562 7 980 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development 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 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 19 850 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 17 1515 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 15 190 --- --- --- --- CCDC80 151887 broad.mit.edu 37 3 112357576 112357576 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:112357576delA ENST00000206423.3 - 2 2130 c.1177delT c.(1177-1179)ccfs p.S393fs CCDC80_ENST00000439685.2_Frame_Shift_Del_p.S393fs NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 393 Thr-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGCCTGTGGGAGGGTGAGGGG 0.597 7 506 --- --- --- --- CASR 846 broad.mit.edu 37 3 122003626 122003628 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:122003626_122003628delAGC ENST00000498619.1 + 7 3293_3295 c.2855_2857delAGC c.(2854-2859)gag>g p.EQ952del CASR_ENST00000296154.5_In_Frame_Del_p.EQ942del|CASR_ENST00000490131.1_In_Frame_Del_p.EQ942del NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 942 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACCCAGCAAGAGCAGCAGCAGCA 0.621 8 559 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 13 286 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595229 195595229 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:195595229delG ENST00000333602.6 - 12 2512 c.1895delC c.(1894-1896)cgfs p.P633fs TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 633 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) ATAGGCGGGCGGGGGGGGCAG 0.726 17 714 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 3 3 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 11 962 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 12 1577 --- --- --- --- WHSC1 7468 broad.mit.edu 37 4 1980558 1980559 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:1980558_1980559insC ENST00000382895.3 + 24 4451_4452 c.4020_4021insC c.(4018-4023)aaccccfs p.NP1340fs WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1340 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGACTGAGAAGCCCCCCCCAGA 0.678 T IGH@ MM 7 281 --- --- --- --- EVC 2121 broad.mit.edu 37 4 5809995 5809997 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:5809995_5809997delCAG ENST00000382674.2 + 18 2813_2815 c.2629_2631delCAG c.(2629-2631)del p.Q880del EVC_ENST00000264956.6_In_Frame_Del_p.Q880del P57679 EVC_HUMAN Ellis van Creveld syndrome 880 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TCTGCACGCCCAGCAGCAGCAGG 0.591 7 480 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_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 9 594 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 398 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 12 1940 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 10 281 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 14 397 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13871038 13871038 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:13871038delT ENST00000265104.4 - 24 3776 c.3672delA c.(3670-3672)aafs p.K1224fs CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1224 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CACTCCGGTATTTTTTGTTAC 0.398 Kartagener syndrome 7 523 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:32404161delT ENST00000265069.8 - 7 1176 c.1074delA c.(1072-1074)aafs p.K358fs NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 358 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) ATGCAGCTTCTTTTTTTTTAT 0.348 12 516 --- --- --- --- SLC12A2 6558 broad.mit.edu 37 5 127420207 127420209 + In_Frame_Del DEL CGG CGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:127420207_127420209delCGG ENST00000262461.2 + 1 750_752 c.561_563delCGG c.(559-564)tcc>tc p.SG187del SLC12A2_ENST00000343225.4_In_Frame_Del_p.SG187del NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 187 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCTGCACTCCGGCGGCGGCGGC 0.650 9 282 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801684 137801686 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:137801684_137801686delCAG ENST00000239938.4 + 1 506_508 c.234_236delCAG c.(232-237)aac>aa p.NS78del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 78 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.724 7 152 --- --- --- --- PCDHB2 0 broad.mit.edu 37 5 140474590 140474590 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:140474590delA ENST00000194155.4 + 1 364 c.216delA c.(214-216)ggfs p.G72fs NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCCAAAGGAAAAAAAATGC 0.522 8 568 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156535948 156535950 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:156535948_156535950delAGC ENST00000307851.4 - 1 775_777 c.45_47delGCT c.(43-48)cta>ct p.LL17del CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 17 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAAGTAGTAGCAGCAGCAGCA 0.438 8 327 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:175306965_175306967delGAG ENST00000359546.4 + 5 965_967 c.322_324delGAG c.(322-324)del p.E114del CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 114 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTGCGGGGACGAGGAGGAGGAGG 0.645 7 250 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374632 180374633 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:180374632_180374633delGA ENST00000231229.4 + 4 1028_1029 c.794_795delGA c.(793-795)cfs p.R265fs BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000340184.4_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 7 1988 --- --- --- --- TRIM52 84851 broad.mit.edu 37 5 180687612 180687614 + In_Frame_Del DEL TCC TCC - rs146030758 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr5:180687612_180687614delTCC ENST00000327767.4 - 1 505_507 c.201_203delGGA c.(199-204)gac>ga p.ED67del CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 67 Glu-rich. intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) CGCTtcctcgtcctcctcctcct 0.581 9 669 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084620 31084622 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:31084620_31084622delCCA ENST00000376288.2 - 2 796_798 c.770_772delTGG c.(769-774)gac>g p.VD257del PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 257 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CCGTGCTGGTCCACCACCACCAC 0.635 10 398 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31597456 31597457 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:31597456_31597457insC ENST00000376033.2 + 14 2322_2323 c.2088_2089insC c.(2086-2091)ccccccfs p.PP696fs PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 696 4 X 57 AA type A repeats.|Poly-Pro. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CACAGGCTCCACCCCCGCCCCC 0.649 9 334 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 8 436 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 8 642 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33287898 33287900 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:33287898_33287900delTCC ENST00000374542.5 - 5 1557_1559 c.1353_1355delGGA c.(1351-1356)gaa>ga p.EE455del DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 455 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 ctcttcttcttcctcctcctcct 0.552 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 8 257 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 15 322 --- --- --- --- FOXP4 116113 broad.mit.edu 37 6 41557781 41557781 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:41557781delC ENST00000373060.1 + 11 1688 c.1230delC c.(1228-1230)cafs p.H410fs FOXP4_ENST00000373063.3_Frame_Shift_Del_p.H397fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.H408fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.H398fs|FOXP4_ENST00000307972.4_Frame_Shift_Del_p.H410fs NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 410 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) GTCTCGTGCACCCCCCGACCT 0.682 7 460 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269193 44269193 + Frame_Shift_Del DEL C C - rs498512 byFrequency TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:44269193delC ENST00000244571.4 - 20 2609 c.2607delG c.(2605-2607)aafs p.K870fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 870 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) CCTGAGTTTTCTTTGCAGCCT 0.572 7 925 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390467 45390469 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:45390467_45390469delCAG ENST00000371438.1 + 2 554_556 c.196_198delCAG c.(196-198)del p.Q71del RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000352853.5_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 8 188 --- --- --- --- SLC17A5 26503 broad.mit.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:74351590delA ENST00000355773.5 - 3 617 c.349delT c.(349-351)atfs p.Y117fs SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 117 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGTAGCCATAAAAAAAGGAA 0.423 7 986 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 17 260 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 10 1743 --- --- --- --- LAMA4 3910 broad.mit.edu 37 6 112575076 112575077 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr6:112575076_112575077delGA ENST00000368638.4 - 2 546_547 c.276_277delTC c.(274-279)tccgfs p.SP92fs LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000453937.2_Frame_Shift_Del_p.SP92fs|RP11-506B6.6_ENST00000587816.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000590293.1_RNA Q16363 LAMA4_HUMAN laminin, alpha 4 0 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GAAAGAGGCGGAGAGAGAGAGA 0.584 7 260 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 7 827 --- --- --- --- STK31 56164 broad.mit.edu 37 7 23808740 23808741 + Frame_Shift_Ins INS - - A TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:23808740_23808741insA ENST00000354639.3 + 12 1938_1939 c.1474_1475insA c.(1474-1476)aacfs p.N492fs STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Frame_Shift_Ins_p.N515fs|STK31_ENST00000428484.1_Frame_Shift_Ins_p.N492fs|STK31_ENST00000355870.3_Frame_Shift_Ins_p.N515fs NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 515 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTTAGAAGTGAAACAGACGCT 0.401 7 353 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 9 175 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA rs71982071 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:65419353_65419354insTTA ENST00000434382.2 + 2 490_491 c.487_488insTTA c.(487-489)tat>TTAtat p.162_163insL VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) GCAGCAGGTTTttattattatt 0.416 8 68 --- --- --- --- TRIM50 135892 broad.mit.edu 37 7 72734195 72734195 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:72734195delT ENST00000333149.2 - 3 646 c.446delA c.(445-447)agfs p.K149fs TRIM50_ENST00000453152.1_Frame_Shift_Del_p.K149fs NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 149 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 CTCATCCACCTTTTTCTGCTC 0.607 7 1826 --- --- --- --- NSUN5P1 0 broad.mit.edu 37 7 75044524 75044526 + RNA DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:75044524_75044526delAGG ENST00000393633.2 + 0 3680 large_intestine(1)|lung(1) 2 TGAGTGCCACAGGAGGAGGAGGA 0.537 7 290 --- --- --- --- RSBN1L 222194 broad.mit.edu 37 7 77326220 77326222 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:77326220_77326222delCCG ENST00000334955.7 + 1 461_463 c.434_436delCCG c.(433-438)ccc>c p.PA145del NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 145 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCCTCCTGCCCGCCGCCGCCGC 0.685 15 290 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 11 807 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100159920 100159921 + Frame_Shift_Ins INS - - C rs34537355 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:100159920_100159921insC ENST00000300176.4 + 7 1038_1039 c.916_917insC c.(916-918)accfs p.T306fs AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 306 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTCCCCTGGCACCCGCCAGT 0.639 7 602 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 12 406 --- --- --- --- PRKRIP1 79706 broad.mit.edu 37 7 102065517 102065519 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:102065517_102065519delGAG ENST00000496391.1 + 10 1824_1826 c.514_516delGAG c.(514-516)del p.E176del PRKRIP1_ENST00000354783.4_In_Frame_Del_p.RG112del|PRKRIP1_ENST00000397912.3_In_Frame_Del_p.E176del|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_In_Frame_Del_p.E119del Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 176 Poly-Glu. nucleolus endometrium(1)|lung(4)|ovary(1) 6 ATCTGGAACAGAGGAGGAGGAGG 0.567 7 275 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107393940 107393940 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:107393940delT ENST00000440859.2 + 3 733 c.266delT c.(265-267)ctfs p.L89fs CBLL1_ENST00000415884.2_Frame_Shift_Del_p.L89fs|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.L88fs NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 89 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CCTGGACACCTTTTTTGGGAC 0.284 7 300 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.P303A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCCCTagcaggaggaggagga 0.616 16 582 --- --- --- --- TNPO3 23534 broad.mit.edu 37 7 128610259 128610259 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:128610259delG ENST00000393245.1 - 20 3016 c.2643delC c.(2641-2643)ccfs p.P881fs TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 847 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 GTAGGGTATAGGGGGGGAGGC 0.483 8 1650 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 7 139 --- --- --- --- ZNF777 27153 broad.mit.edu 37 7 149152825 149152825 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:149152825delG ENST00000247930.4 - 2 612 c.289delC c.(289-291)tgfs p.L97fs NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGGGAAGCCAGGGGGCCCTGG 0.607 8 1263 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 7 332 --- --- --- --- BMP1 649 broad.mit.edu 37 8 22035414 22035414 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:22035414delG ENST00000306385.5 + 6 1450 c.780delG c.(778-780)ctfs p.L260fs BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.L260fs|BMP1_ENST00000306349.8_Frame_Shift_Del_p.L260fs|BMP1_ENST00000397814.3_Frame_Shift_Del_p.L260fs NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 260 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGGAGTCCCTGGGGGAGACCT 0.607 8 1741 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 7 253 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494021 65494023 + In_Frame_Del DEL GCA GCA - rs62519837 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:65494021_65494023delGCA ENST00000321870.1 + 1 1208_1210 c.674_676delGCA c.(673-678)ggc>g p.GS225del RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 225 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1)|p.S226G(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ggcagcggcggcagcagcagcag 0.709 7 46 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92998419 92998419 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:92998419delT ENST00000523629.1 - 9 1666 c.1212delA c.(1210-1212)aafs p.K404fs RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 404 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCGCCACCTTTTTTTAAGT 0.517 7 974 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 8 236 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 9 130 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145006627 145006629 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:145006627_145006629delCCT ENST00000322810.4 - 16 2496_2498 c.2327_2329delAGG c.(2326-2331)gtg>g p.EV776del PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del|PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 776 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGAAGCCCACCTCCTCCTCCTC 0.621 7 804 --- --- --- --- SLC39A4 55630 broad.mit.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr8:145637952_145637954delCAG ENST00000276833.5 - 11 2140_2142 c.1837_1839delCTG c.(1837-1839)del p.L613del SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 638 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGTACAGGGACAGCAGCAGCAGG 0.601 7 1281 --- --- --- --- KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:2837296delT ENST00000397885.2 - 3 394 c.188delA c.(187-189)agfs p.K63fs NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388 7 1067 --- --- --- --- ACO1 48 broad.mit.edu 37 9 32420980 32420980 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:32420980delT ENST00000379923.1 + 9 1131 c.925delT c.(925-927)ttfs p.F310fs ACO1_ENST00000541043.1_Frame_Shift_Del_p.F211fs|ACO1_ENST00000309951.5_Frame_Shift_Del_p.F310fs NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 310 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) AACTGCTGCCTTTTTCCCAGT 0.483 9 1310 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 8 1189 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 16 605 --- --- --- --- GTF3C5 9328 broad.mit.edu 37 9 135933278 135933280 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr9:135933278_135933280delGAG ENST00000372097.5 + 11 1794_1796 c.1471_1473delGAG c.(1471-1473)del p.E499del GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del|GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 499 Glu-rich.|Poly-Glu. transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) cgaggaggatgaggaggaggagg 0.581 8 459 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 25 604 --- --- --- --- RP11-324H6.5 0 broad.mit.edu 37 10 51821328 51821328 + RNA DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:51821328delG ENST00000456967.1 - 0 1306 NR_038275.1 CGGTCAGCTTGGGGGGTGCGA 0.517 7 1199 --- --- --- --- ZNF365 22891 broad.mit.edu 37 10 64159366 64159366 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:64159366delA ENST00000395254.3 + 5 1322 c.1042delA c.(1042-1044)aafs p.K349fs ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) GAACCACCTGAAAAAGGCCAA 0.567 7 1498 --- --- --- --- PRF1 5551 broad.mit.edu 37 10 72358622 72358624 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:72358622_72358624delCTT ENST00000441259.1 - 3 1013_1015 c.853_855delAAG c.(853-855)del p.K285del PRF1_ENST00000373209.2_In_Frame_Del_p.K285del NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 285 MACPF. Missing (in FHL2). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCATCTTGTGCTTCTTCTTCTTC 0.591 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 12 631 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 12 928 --- --- --- --- CNNM2 54805 broad.mit.edu 37 10 104836780 104836780 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:104836780delC ENST00000369878.3 + 8 2595 c.2471delC c.(2470-2472)acfs p.T824fs CNNM2_ENST00000433628.2_Frame_Shift_Del_p.T802fs|CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000457502.2_Frame_Shift_Del_p.T582fs NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 824 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ATGGACAAAACCCCCCAGTCT 0.473 9 921 --- --- --- --- AFAP1L2 84632 broad.mit.edu 37 10 116062107 116062107 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr10:116062107delT ENST00000369271.3 - 12 1721 c.1421delA c.(1420-1422)acfs p.N474fs AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 474 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAAGAGAGAGTTTTTGGCCGC 0.547 7 1462 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 11 1249 --- --- --- --- RRP8 23378 broad.mit.edu 37 11 6623336 6623338 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:6623336_6623338delTCC ENST00000254605.6 - 2 324_326 c.207_209delGGA c.(205-210)gaa>ga p.EE69del RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 69 Poly-Glu. chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 CTTCTTCCTTTCCTCCTCCTCCT 0.532 7 441 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:6662142delG ENST00000299441.3 - 2 1114 c.703delC c.(703-705)ggfs p.R236fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 236 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCTCCGGGGGGGTGAA 0.587 7 1202 --- --- --- --- ST5 6764 broad.mit.edu 37 11 8751894 8751894 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:8751894delT ENST00000534127.1 - 6 1328 c.943delA c.(943-945)ggfs p.R315fs ST5_ENST00000313726.6_Frame_Shift_Del_p.R315fs|ST5_ENST00000357665.1_Frame_Shift_Del_p.R315fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 315 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCAGTCTTCCTTTTCCCCCGG 0.682 7 851 --- --- --- --- SAAL1 113174 broad.mit.edu 37 11 18127531 18127533 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:18127531_18127533delCCT ENST00000524803.1 - 1 105_107 c.56_58delAGG c.(55-60)gtg>g p.EV19del SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_In_Frame_Del_p.EV19del|SAAL1_ENST00000529318.1_In_Frame_Del_p.EV19del Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 19 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 CCACCGGCCACCTCCTCCTCCTC 0.670 OREG0020819 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 159 --- --- --- --- E2F8 79733 broad.mit.edu 37 11 19251461 19251461 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:19251461delG ENST00000527884.1 - 10 1665 c.1433delC c.(1432-1434)cafs p.P478fs E2F8_ENST00000250024.4_Frame_Shift_Del_p.P478fs|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 478 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCATTCACTGGGGGGTCCAG 0.547 7 2137 --- --- --- --- ARHGAP1 392 broad.mit.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:46702224delG ENST00000311956.4 - 8 806 c.709delC c.(709-711)tgfs p.L237fs NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 237 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TGGTTGGGCAGGGGGGGCCGT 0.642 8 736 --- --- --- --- OR5AR1 219493 broad.mit.edu 37 11 56431467 56431467 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:56431467delT ENST00000302969.2 + 1 330 c.306delT c.(304-306)gcfs p.A102fs NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CCCAGTTTGCTTTTTTTGTAG 0.507 7 1533 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60699534 60699534 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:60699534delG ENST00000005286.4 + 7 1447 c.1294delG c.(1294-1296)ggfs p.G433fs TMEM132A_ENST00000453848.2_Frame_Shift_Del_p.G432fs NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 432 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TGTGGACGGCGGGGGGGCCTT 0.642 7 761 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:60703785_60703787delGGA ENST00000005286.4 + 11 2634_2636 c.2481_2483delGGA c.(2479-2484)agg>ag p.RE827del TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 826 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGAAGCCAGggaggaggaggag 0.635 8 762 --- --- --- --- INTS5 80789 broad.mit.edu 37 11 62416219 62416221 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:62416219_62416221delGCA ENST00000330574.2 - 2 1383_1385 c.1331_1333delTGC c.(1330-1335)cac>c p.LH444del NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 444 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 TTTTGCAGGTGCAGCAGCAGCAG 0.621 8 679 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 8 273 --- --- --- --- NUMA1 0 broad.mit.edu 37 11 71724190 71724190 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:71724190delC ENST00000393695.3 - 15 4690 c.4359delG c.(4357-4359)ggfs p.G1453fs NUMA1_ENST00000358965.6_Frame_Shift_Del_p.G1453fs|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1453 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GCTCACCCAGCCCCCGGTTCT 0.622 T RARA APL 8 1503 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G rs139987150 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:118770651_118770652insG ENST00000334801.3 - 7 4344_4345 c.3380_3381insC c.(3379-3381)cccfs p.P1127fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1127 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCGGTGGTGGTGGGGGGGGCAG 0.703 11 379 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118967854 118967856 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:118967854_118967856delGCA ENST00000409993.2 - 10 2708_2710 c.1157_1159delTGC c.(1156-1161)cag>c p.LQ386del DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 386 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) ATCCTCACCTGCAGCAGCAGCAG 0.488 8 855 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 7 406 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 11 833 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 34 2078 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:50025258delC ENST00000261897.1 + 2 626 c.75delC c.(73-75)atfs p.I25fs PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 31 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CACCAGCTATCCCCCCCATGC 0.607 7 1239 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 17 867 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 7 1093 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:58025102_58025103insC ENST00000341156.4 - 3 847_848 c.263_264insG c.(262-264)gctfs p.A88fs B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.G88fs*24(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 18 1044 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 1091 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 7 895 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132446446 132446448 + In_Frame_Del DEL GAG GAG - rs62635809 byFrequency TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr12:132446446_132446448delGAG ENST00000333577.4 + 2 1391_1393 c.1282_1284delGAG c.(1282-1284)del p.E437del EP400_ENST00000330386.6_In_Frame_Del_p.E437del|EP400_ENST00000332482.4_In_Frame_Del_p.E437del|EP400_ENST00000389562.2_In_Frame_Del_p.E437del|EP400_ENST00000389561.2_In_Frame_Del_p.E437del Q96L91 EP400_HUMAN E1A binding protein p400 437 Poly-Glu. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.E428E(1) 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) CATTgaagaagaggaggaggagg 0.379 8 287 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 16 1124 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 30 674 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528607 23528609 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:23528607_23528609delTCT ENST00000262710.1 - 19 4101_4103 c.3774_3776delAGA c.(3772-3777)gag>ga p.EE1258del ACIN1_ENST00000457657.1_In_Frame_Del_p.EE1218del|ACIN1_ENST00000605057.1_In_Frame_Del_p.EE1200del|ACIN1_ENST00000555053.1_In_Frame_Del_p.EE1245del|ACIN1_ENST00000357481.2_In_Frame_Del_p.EE500del|ACIN1_ENST00000338631.6_In_Frame_Del_p.EE531del|ACIN1_ENST00000557515.1_In_Frame_Del_p.EE499del|ACIN1_ENST00000397341.3_In_Frame_Del_p.EE500del NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1258 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ctccttttgctcttcttcttctt 0.601 10 384 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24646921 24646921 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:24646921delC ENST00000311457.3 + 12 1417 c.818delC c.(817-819)acfs p.T273fs REC8_ENST00000559919.1_Frame_Shift_Del_p.T273fs O95072 REC8_HUMAN REC8 meiotic recombination protein 274 Glu-rich.|Pro-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) GCAGAGGTGACCCCCCCGGAG 0.612 7 542 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24791301 24791301 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:24791301delG ENST00000310677.4 - 21 2670 c.2557delC c.(2557-2559)agfs p.Q853fs ADCY4_ENST00000418030.2_Frame_Shift_Del_p.Q853fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.Q853fs NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 853 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CCAATGAACTGGGGGGCCACG 0.587 7 1221 --- --- --- --- FSCB 84075 broad.mit.edu 37 14 44975663 44975663 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:44975663delC ENST00000340446.4 - 1 819 c.528delG c.(526-528)aafs p.K176fs NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 176 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTCCTTTGACTTTGTAGAAG 0.403 10 962 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 357 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_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 15 901 --- --- --- --- TTC8 123016 broad.mit.edu 37 14 89338724 89338726 + In_Frame_Del DEL CAA CAA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:89338724_89338726delCAA ENST00000338104.6 + 13 1375_1377 c.1323_1325delCAA c.(1321-1326)gtc>gt p.VN441del TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del|TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del|TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 451 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGGCTCTGGTCAACAACAACAAC 0.537 7 747 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 16 316 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 7 284 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 10 604 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 11 971 --- --- --- --- TNFAIP2 7127 broad.mit.edu 37 14 103599784 103599786 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:103599784_103599786delAGC ENST00000560869.1 + 10 2270_2272 c.1631_1633delAGC c.(1630-1635)gag>g p.EQ544del TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del|TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 544 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) AAGACGGCCGAGCAGCAGCAGCA 0.626 10 606 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 8 589 --- --- --- --- AKT1 207 broad.mit.edu 37 14 105242073 105242075 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:105242073_105242075delCTC ENST00000554581.1 - 4 1829_1831 c.349_351delGAG c.(349-351)del p.E117del AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del|AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 117 activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GGAAGTCCATCTCCTCCTCCTCC 0.631 1 Mis """breast, colorectal, ovarian, NSCLC""" 8 621 --- --- --- --- IGHV3-13 0 broad.mit.edu 37 14 106586299 106586299 + RNA DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:106586299delT ENST00000390602.2 - 0 265 ACTCCAGACCTTTTCCTGTAG 0.547 8 846 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 15 1523 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 13 1200 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 9 29 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 8 1575 --- --- --- --- AVEN 57099 broad.mit.edu 37 15 34163233 34163234 + Splice_Site DEL TA TA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:34163233_34163234delTA ENST00000306730.3 - 4 646 c.e4-2 AVEN_ENST00000558136.1_Splice_Site NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TGCTGAATTCtatatatatata 0.371 9 162 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 30 1365 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 11 1177 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:40631782delC ENST00000559313.1 - 3 309 c.294delG c.(292-294)ggfs p.G98fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 98 p.M99fs*3(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCACAGCCATCCCCCCCTGCT 0.647 10 827 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038313 43038313 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:43038313delT ENST00000267890.6 - 15 3523 c.3415delA c.(3415-3417)cafs p.T1139fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1139 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TTGGGTGGTGTTTTTGGATTG 0.542 7 904 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 8 210 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 12 366 --- --- --- --- CPLX3 594855 broad.mit.edu 37 15 75122558 75122560 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:75122558_75122560delGAG ENST00000395018.4 + 3 497_499 c.340_342delGAG c.(340-342)del p.E118del RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 118 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 GGAGGACACAGAGGAGGAGGAGG 0.616 13 630 --- --- --- --- AKAP13 11214 broad.mit.edu 37 15 86198981 86198981 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr15:86198981delA ENST00000394518.2 + 11 4803 c.4708delA c.(4708-4710)aafs p.K1570fs RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Frame_Shift_Del_p.K1570fs|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1570 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GGGGCCTGGGAAAAATGCAGC 0.532 8 673 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 9 141 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:709106delC ENST00000549091.1 + 25 3124 c.3032delC c.(3031-3033)gcfs p.A1011fs WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TTCCCCGGGGCCCCCCCAGCC 0.657 8 901 --- --- --- --- PRSS29P 0 broad.mit.edu 37 16 1311513 1311514 + RNA INS - - GGCA rs5815085 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:1311513_1311514insGGCA ENST00000568091.1 - 0 1353 GGTGGGAGCAGGGCAGGCAGGC 0.708 9 10 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 16 840 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 11 270 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 18 491 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:19722724delT ENST00000219837.7 - 3 1035 c.957delA c.(955-957)aafs p.K319fs KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.G320fs*5(1)|p.K319N(1) CCATGTTGCCTTTTTTTTCCA 0.562 11 657 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 10 484 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 12 2047 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30977317 30977317 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:30977317delC ENST00000262519.8 + 8 2801 c.2115delC c.(2113-2115)ggfs p.G705fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 705 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCTCAGCTGGCCCCCCCGGTG 0.642 8 965 --- --- --- --- NOD2 64127 broad.mit.edu 37 16 50745399 50745399 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:50745399delC ENST00000300589.2 + 4 1682 c.1577delC c.(1576-1578)acfs p.T526fs NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 526 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CTGCATGCCACCCCCCCAGAC 0.617 9 794 --- --- --- --- NLRC5 84166 broad.mit.edu 37 16 57059906 57059909 + Frame_Shift_Del DEL CTGC CTGC - rs71689645 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:57059906_57059909delCTGC ENST00000436936.1 + 6 1276_1279 c.1051_1054delCTGC c.(1051-1056)ctfs p.LP351fs NLRC5_ENST00000539144.1_Frame_Shift_Del_p.LP351fs|NLRC5_ENST00000262510.6_Frame_Shift_Del_p.LP351fs|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.LP351fs Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 351 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TCCAGGGAAGctgcctgcctgcct 0.613 10 645 --- --- --- --- CDH16 1014 broad.mit.edu 37 16 66945996 66945998 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:66945996_66945998delCAC ENST00000299752.4 - 13 1787_1789 c.1594_1596delGTG c.(1594-1596)del p.V532del CDH16_ENST00000565796.1_In_Frame_Del_p.V532del|CDH16_ENST00000568632.1_In_Frame_Del_p.V435del|CDH16_ENST00000570262.1_In_Frame_Del_p.V452del|CDH16_ENST00000394055.3_In_Frame_Del_p.V532del NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 532 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCACACTCTGCACCACCACCACC 0.635 7 559 --- --- --- --- ACD 65057 broad.mit.edu 37 16 67693646 67693648 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:67693646_67693648delGCA ENST00000219251.8 - 3 873_875 c.542_544delTGC c.(541-546)cag>c p.LQ181del ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 184 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L181delL(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGTCCTGCAGCAGCAGCAG 0.650 10 1276 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 13 304 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 8 2097 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831016 72831018 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:72831016_72831018delCTG ENST00000268489.5 - 9 6235_6237 c.5563_5565delCAG c.(5563-5565)del p.Q1855del ZFHX3_ENST00000397992.5_In_Frame_Del_p.Q941del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1855 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGAGTTGGTTCTGCTGCTGCTGC 0.527 7 1312 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72845830 72845830 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:72845830delT ENST00000268489.5 - 6 4309 c.3637delA c.(3637-3639)cafs p.T1213fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.T299fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1213 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCCTCAGCTGTTTTTGGTCGC 0.537 7 2012 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991716 72991718 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr16:72991716_72991718delCCG ENST00000268489.5 - 2 2999_3001 c.2327_2329delCGG c.(2326-2331)gtg>g p.AV776del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 776 Poly-Ala. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgcagccaccgccgccgccgc 0.635 8 574 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 15 641 --- --- --- --- ZBTB4 57659 broad.mit.edu 37 17 7366349 7366351 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:7366349_7366351delTCC ENST00000311403.4 - 4 2289_2291 c.1950_1952delGGA c.(1948-1953)gat>ga p.ED650del ZBTB4_ENST00000380599.4_In_Frame_Del_p.ED650del NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 650 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) Ttcctcctcatcctcctcctcct 0.606 9 273 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577058 7577059 + Frame_Shift_Del DEL CC CC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:7577058_7577059delCC ENST00000420246.2 - 8 1011_1012 c.879_880delGG c.(877-882)ggagfs p.GE293fs TP53_ENST00000359597.4_Frame_Shift_Del_p.GE293fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.GE293fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.GE293fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.GE293fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 293 Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E294*(46)|p.E294fs*51(10)|p.K291fs*48(8)|p.0?(8)|p.G293G(7)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGAGGCTCCCCTTTCTTGC 0.569 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 493 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606714 7606715 + Frame_Shift_Ins INS - - G rs146634933 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:7606714_7606715insG ENST00000316024.5 + 10 3905_3906 c.1557_1558insG c.(1555-1560)tgggggfs p.WG519fs WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 519 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCTGGTGGTGTGGGGGGGCGCC 0.599 10 590 --- --- --- --- RANGRF 29098 broad.mit.edu 37 17 8192146 8192146 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:8192146delT ENST00000439238.3 + 1 151 c.40delT c.(40-42)ttfs p.F14fs RANGRF_ENST00000407006.4_Frame_Shift_Del_p.F14fs|RANGRF_ENST00000226105.6_Frame_Shift_Del_p.F14fs|SLC25A35_ENST00000581320.1_Intron|RANGRF_ENST00000580434.1_Frame_Shift_Del_p.F14fs|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000579192.1_Intron|SLC25A35_ENST00000380067.2_3'UTR Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 14 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity endometrium(1) 1 CGGGGGCGCCTTTTCCGCCAT 0.617 7 911 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 7 270 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 9 296 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 27 2051 --- --- --- --- PIP4K2B 8396 broad.mit.edu 37 17 36955530 36955530 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:36955530delC ENST00000269554.3 - 1 628 c.148delG c.(148-150)tgfs p.V50fs PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 50 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 GTGTGGTTCACCCCCCACATC 0.677 8 455 --- --- --- --- WIPF2 147179 broad.mit.edu 37 17 38421174 38421176 + In_Frame_Del DEL CTC CTC - rs151273872 byFrequency TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:38421174_38421176delCTC ENST00000323571.4 + 5 986_988 c.746_748delCTC c.(745-750)gct>g p.AP249del WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000536600.1_Intron NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 249 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CAGTCTCTGGCTCCTCCTCCTCC 0.596 HNSCC(43;0.11) 9 1583 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 13 183 --- --- --- --- SPPL2C 162540 broad.mit.edu 37 17 43923242 43923244 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:43923242_43923244delCTG ENST00000329196.5 + 1 987_989 c.970_972delCTG c.(970-972)del p.L327del MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 327 integral to membrane aspartic-type endopeptidase activity GCCGCTGCCTCTGCTGCTGCTGG 0.650 7 583 --- --- --- --- SCRN2 90507 broad.mit.edu 37 17 45916929 45916929 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:45916929delC ENST00000407215.3 - 4 518 c.437delG c.(436-438)gcfs p.G146fs SCRN2_ENST00000290216.9_Frame_Shift_Del_p.G146fs|SCRN2_ENST00000584123.1_Frame_Shift_Del_p.G154fs Q96FV2 SCRN2_HUMAN secernin 2 146 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 CAGGCAGTTGCCCCCCTGCCC 0.617 7 1755 --- --- --- --- XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:48433967delC ENST00000017003.2 + 8 1627 c.1578delC c.(1576-1578)tafs p.Y526fs XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 526 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) ATGGCAGCTACCCCCCCGGCA 0.602 7 685 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 19 554 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65905759 65905759 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:65905759delA ENST00000321892.4 + 12 3313 c.3252delA c.(3250-3252)ccfs p.P1084fs BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1084 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CACGAAGTCCAAAAAAAATAA 0.308 9 146 --- --- --- --- GPRC5C 0 broad.mit.edu 37 17 72436565 72436567 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:72436565_72436567delTGC ENST00000392627.1 + 2 1911_1913 c.785_787delTGC c.(784-789)atg>a p.ML262del GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_In_Frame_Del_p.ML229del NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 217 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 ATCTACGTCATGCTGCTGCTGCT 0.665 8 364 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73482037 73482039 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:73482037_73482039delTGC ENST00000314256.7 + 4 624_626 c.230_232delTGC c.(229-234)gtg>g p.VL77del KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del|KIAA0195_ENST00000579208.1_Intron NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 77 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTACTGGCCGTGCTGCTGCTGCT 0.675 11 267 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr17:73732157_73732158delGT ENST00000200181.3 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)cagtfs p.QC561fs ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 561 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 7 1443 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77894260 77894261 + Frame_Shift_Ins INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr18:77894260_77894261insC ENST00000262198.4 + 4 1419_1420 c.964_965insC c.(964-966)cccfs p.P322fs NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 322 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A325fs*59(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCTCACTCATTCCCCCCCTGCT 0.644 9 746 --- --- --- --- GADD45GIP1 90480 broad.mit.edu 37 19 13065273 13065275 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:13065273_13065275delGCT ENST00000316939.1 - 2 439_441 c.416_418delAGC c.(415-420)cgg>c p.QR139del NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 139 Poly-Gln. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 CAGTTCTCCCGCTGCTGCTGCTG 0.635 7 666 --- --- --- --- GIPC1 10755 broad.mit.edu 37 19 14593760 14593760 + Frame_Shift_Del DEL T T - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:14593760delT ENST00000393033.4 - 4 298 c.29delA c.(28-30)agfs p.K10fs GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.K10fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.K10fs|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 10 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 AGGGGGCGCCTTTTTCCGCCG 0.697 7 243 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 19 1371 --- --- --- --- CILP2 148113 broad.mit.edu 37 19 19654512 19654512 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:19654512delC ENST00000586018.1 + 8 1278 c.1176delC c.(1174-1176)gafs p.D392fs CILP2_ENST00000291495.4_Frame_Shift_Del_p.D386fs Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 386 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CAGCCTGCGACCCCCGGCCCC 0.647 7 2838 --- --- --- --- WBP7 0 broad.mit.edu 37 19 36214865 36214866 + Frame_Shift_Ins INS - - G rs34014681 by1000genomes TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:36214865_36214866insG ENST00000222270.7 + 8 3291_3292 c.3291_3292insG c.(3289-3294)ccggggfs p.PG1097fs KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Frame_Shift_Ins_p.PG1097fs NM_014727.1 NP_055542.1 ACTCGGAGCCCGGGGGCCCCCC 0.574 11 331 --- --- --- --- CAPNS1 826 broad.mit.edu 37 19 36631941 36631943 + In_Frame_Del DEL GGC GGC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:36631941_36631943delGGC ENST00000246533.3 + 2 626_628 c.28_30delGGC c.(28-30)del p.G20del CAPNS1_ENST00000588780.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000587718.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000590874.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000588815.1_In_Frame_Del_p.G20del|CAPNS1_ENST00000589146.1_In_Frame_Del_p.G20del NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 20 Gly-rich (hydrophobic).|Poly-Gly. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTTCTTGAAGggcggcggcggcg 0.719 8 264 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 10 1610 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39019604 39019606 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:39019604_39019606delAGG ENST00000355481.4 + 75 11164_11166 c.11033_11035delAGG c.(11032-11037)cag>c p.QE3678del RYR1_ENST00000360985.3_In_Frame_Del_p.QE3683del|RYR1_ENST00000359596.3_In_Frame_Del_p.QE3683del NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3683 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGGggagcaggaggaggagga 0.576 7 119 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 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) CGCCGGACCTCACCACCACCACC 0.685 7 1924 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 12 189 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42224866 42224866 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:42224866delC ENST00000221992.6 + 8 1910 c.1796delC c.(1795-1797)tcfs p.S599fs CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCATCATTTCCCCCCCAGAC 0.547 8 1688 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 11 230 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45556129 45556129 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:45556129delC ENST00000544944.2 + 3 970 c.278delC c.(277-279)acfs p.T93fs CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Del_p.T93fs Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 93 mRNA processing|RNA splicing nucleus p.L96fs*17(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 CCCGACTACACCCCCCCTCTG 0.612 7 752 --- --- --- --- NKPD1 284353 broad.mit.edu 37 19 45655769 45655771 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:45655769_45655771delCTG ENST00000317951.4 - 4 1923_1925 c.1924_1926delCAG c.(1924-1926)del p.Q642del NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CAAAGTCCCCCTGCTGCTGCTGC 0.704 8 83 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 7 1046 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 15 376 --- --- --- --- RASIP1 54922 broad.mit.edu 37 19 49238617 49238619 + In_Frame_Del DEL GCC GCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:49238617_49238619delGCC ENST00000222145.4 - 4 1217_1219 c.1013_1015delGGC c.(1012-1017)cag>c p.RQ338del RASIP1_ENST00000594232.1_5'UTR NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 338 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CGCTCCTGCTGCCGCCGCCGCCG 0.655 9 238 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 16 749 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50156709 50156711 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:50156709_50156711delGGA ENST00000360565.3 + 7 3187_3189 c.3063_3065delGGA c.(3061-3066)gcg>gc p.AE1021del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1021 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GAGGTGGGGCggaggaggaggag 0.655 8 83 --- --- --- --- SYT3 84258 broad.mit.edu 37 19 51135694 51135696 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:51135694_51135696delCTG ENST00000338916.4 - 2 1154_1156 c.521_523delCAG c.(520-525)gtg>g p.AV174del SYT3_ENST00000593901.1_In_Frame_Del_p.AV174del|SYT3_ENST00000600079.1_In_Frame_Del_p.AV174del|SYT3_ENST00000544769.1_In_Frame_Del_p.AV174del NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 174 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCAGCGGCCACTGCTGCTGCTGC 0.655 8 380 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 7 48 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 32 763 --- --- --- --- ZBTB45 84878 broad.mit.edu 37 19 59028293 59028295 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr19:59028293_59028295delCAG ENST00000594051.1 - 2 1226_1228 c.746_748delCTG c.(745-750)gac>g p.AD249del ZBTB45_ENST00000600990.1_In_Frame_Del_p.AD249del|ZBTB45_ENST00000354590.3_In_Frame_Del_p.AD249del Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CACGCGCTGTCAGCAGCAGCAGT 0.645 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1893 --- --- --- --- SLC4A11 83959 broad.mit.edu 37 20 3218308 3218308 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:3218308delC ENST00000380056.3 - 1 65 c.18delG c.(16-18)ggfs p.G6fs SLC4A11_ENST00000539553.1_Intron|SLC4A11_ENST00000380059.3_Intron|SLC4A11_ENST00000474451.1_Intron NM_032034.3 NP_114423.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 6 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 TGTCTCCCCGCCCCCCGACCT 0.627 8 1225 --- --- --- --- CSRP2BP 57325 broad.mit.edu 37 20 18142695 18142695 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:18142695delA ENST00000278816.2 + 6 1564 c.914delA c.(913-915)gafs p.E305fs CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 305 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GTGATTCTGGAAAAAGGCGAA 0.537 9 1008 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 30 472 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron 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 9 2328 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 10 285 --- --- --- --- NFS1 9054 broad.mit.edu 37 20 34262999 34262999 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:34262999delC ENST00000374092.4 - 8 986 c.916delG c.(916-918)ctfs p.A307fs NFS1_ENST00000540053.1_Frame_Shift_Del_p.A105fs|NFS1_ENST00000374085.1_Frame_Shift_Del_p.A247fs|NFS1_ENST00000541387.1_Frame_Shift_Del_p.A256fs|NFS1_ENST00000397425.1_Frame_Shift_Del_p.A247fs NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 307 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TCACACGCAGCCCCCAGCCCC 0.642 9 780 --- --- --- --- EMILIN3 90187 broad.mit.edu 37 20 39990829 39990829 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:39990829delC ENST00000332312.3 - 4 1572 c.1380delG c.(1378-1380)ggfs p.G460fs NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 460 proteinaceous extracellular matrix p.W461fs*31(1) biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCACTCCCCACCCCCCCATGT 0.637 9 1042 --- --- --- --- CHD6 0 broad.mit.edu 37 20 40033403 40033405 + In_Frame_Del DEL TCT TCT - rs146425509 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:40033403_40033405delTCT ENST00000373233.3 - 37 8153_8155 c.7976_7978delAGA c.(7975-7980)aca>a p.KT2659del CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2659 Poly-Lys. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCCCCCTTTGTCTTCTTCTTCTT 0.586 7 896 --- --- --- --- HNF4A 3172 broad.mit.edu 37 20 43052773 43052775 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:43052773_43052775delGCT ENST00000316099.3 + 8 1097_1099 c.1008_1010delGCT c.(1006-1011)gag>ga p.EL336del HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 336 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTTTGGAGAGCTGCTGCTGCTG 0.576 7 241 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 9 3144 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 15 21 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 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) catcaccaccaccaccatcacc 0.579 9 57 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 18 551 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:19373136_19373138delGCT ENST00000263208.5 - 12 1491_1493 c.1235_1237delAGC c.(1234-1239)ctg>c p.QL412del HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 412 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTCTGGTCCAGCTGCTGCTGCTG 0.581 8 442 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:20918793_20918795delCAG ENST00000263205.7 + 6 577_579 c.508_510delCAG c.(508-510)del p.Q174del MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 174 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagttccagcagcagcagc 0.616 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 241 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42271637 42271637 + Frame_Shift_Del DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:42271637delC ENST00000361204.4 + 7 1461 c.1295delC c.(1294-1296)tcfs p.S432fs NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CTTCTGATGTCCCCCCCAGCC 0.522 7 797 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 7 731 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 7 77 --- --- --- --- PPP2R3B 28227 broad.mit.edu 37 X 302075 302075 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:302075delA ENST00000390665.3 - 9 1160 c.1142delT c.(1141-1143)tgfs p.L381fs NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 381 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCAGAGATCAAAAACCAGAC 0.537 7 1946 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 8 222 --- --- --- --- RAI2 10742 broad.mit.edu 37 X 17818550 17818550 + Frame_Shift_Del DEL A A - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:17818550delA ENST00000545871.1 - 3 2041 c.1581delT c.(1579-1581)ttfs p.F527fs RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 527 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACTTTCTTGGAAAAAAGGTGG 0.333 10 1056 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 9 181 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 10 49 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53589091 53589093 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:53589091_53589093delTCC ENST00000342160.3 - 53 7774_7776 c.7317_7319delGGA c.(7315-7320)gaa>ga p.EE2439del HUWE1_ENST00000262854.6_In_Frame_Del_p.EE2439del Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2439 Asp-rich.|Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ttcctcatcttcctcctcctcct 0.532 8 165 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 7 330 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 8 915 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 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 7 206 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 7 1065 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 8 1340 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994939 140994940 + In_Frame_Ins INS - - CCT TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:140994939_140994940insCCT ENST00000285879.4 + 4 2035_2036 c.1749_1750insCCT c.(1747-1752)agctca>agCCTctca p.583_584SS>SLS MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 583 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTCAGAGCCCTCAGGGGGA 0.584 HNSCC(15;0.026) 9 1705 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 11 842 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 11 453 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 12 409 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8002-01A-11D-2201-08 TCGA-HZ-8002-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a094025-0de4-477e-853d-0bb1808e24b5 44e758af-a0d1-4d6f-addc-33ec19fd1be3 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 13 119 --- --- --- ---