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 HOXA3 3200 broad.mit.edu 37 7 27148069 27148069 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:27148069C>T ENST00000396352.4 - 3 996 c.797G>A c.(796-798)cGc>cAc p.R266H HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 266 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CACGGGGCTGCGACTTGGAGA 0.602000 80 633 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32046935 32046935 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr6:32046935C>T ENST00000375244.3 - 11 4451 c.4250G>A c.(4249-4251)cGt>cAt p.R1417H TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H P22105 TENX_HUMAN tenascin XB 1504 Fibronectin type-III 6. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCCCCAACACGCACCGCCCG 0.662000 79 729 0 0 1 0 0 L3HYPDH 112849 broad.mit.edu 37 14 59946013 59946013 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr14:59946013C>T ENST00000247194.4 - 2 678 c.565G>A c.(565-567)Ggt>Agt p.G189S L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S|RP11-701B16.2_ENST00000554253.1_RNA NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) TAAAATGCACCGCCATATGCA 0.423000 53 280 0 0 1 0 0 TRGV4 0 broad.mit.edu 37 7 38393523 38393523 + RNA SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:38393523G>A ENST00000390345.2 - 0 480 AGTGGATGTAGCCGGTACTTC 0.512000 83 472 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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) 14 113 2.98522e-18 3.25175e-18 1 1 0 CENPT 80152 broad.mit.edu 37 16 67863789 67863789 + Silent SNP G G C TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr16:67863789G>C ENST00000562787.1 - 12 1613 c.1065C>G c.(1063-1065)ccC>ccG p.P355P CENPT_ENST00000219172.3_Silent_p.P355P|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000564817.1_Intron NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 355 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding p.P355P(1) NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CTACCCTGCTGGGTCCTTGTG 0.547000 156 1058 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51133283 51133283 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:51133283G>A ENST00000338916.4 - 3 1453 c.820C>T c.(820-822)Ctg>Ttg p.L274L SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 274 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) CCCTGGTACAGCTCTGGCTTA 0.677000 81 554 0 0 1 0 0 NXPE2 120406 broad.mit.edu 37 11 114569054 114569054 + Silent SNP A A G rs1712838 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:114569054A>G ENST00000375475.5 + 3 518 c.420A>G c.(418-420)ggA>ggG p.G140G NXPE2_ENST00000389586.4_Silent_p.G140G neurexophilin and PC-esterase domain family, member 2 ACCACTTGGGACACAGGAAGC 0.552000 9 156 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13230385 13230385 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr6:13230385C>T ENST00000379350.1 + 9 1480 c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 451 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGATGAGGAGCGGCTGGAGCT 0.587000 11 76 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216498693 216498693 + Missense_Mutation SNP T T C TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:216498693T>C ENST00000366943.2 - 6 1483 c.1097A>G c.(1096-1098)aAt>aGt p.N366S USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000307340.3_Missense_Mutation_p.N366S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 366 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACTCCTTGATTAAGCTGTGT 0.363000 HNSCC(13;0.011) 48 393 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153135631 153135631 + Nonsense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chrX:153135631G>A ENST00000370060.1 - 9 1060 c.871C>T c.(871-873)Cag>Tag p.Q291* L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293* NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 291 Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGTGGTTCTGGTAGGTGACA 0.642000 199 598 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891358 89891358 + Missense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:89891358G>A ENST00000534061.1 + 7 1072 c.842G>A c.(841-843)cGa>cAa p.R281Q NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000525171.1_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 281 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GGAATCCCCCGAATACCTGTA 0.313000 62 539 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73302662 73302662 + Missense_Mutation SNP C C G TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:73302662C>G ENST00000258098.6 - 5 2189 c.1949G>C c.(1948-1950)gGc>gCc p.G650A RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 650 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 TTTGGGGGGGCCCGGGGGGAT 0.637000 24 337 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 6 101 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77423011 77423011 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr9:77423011C>T ENST00000451710.3 - 14 1814 c.1577G>A c.(1576-1578)cGc>cAc p.R526H TRPM6_ENST00000360774.1_Missense_Mutation_p.R526H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 526 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTAGTTGCTGCGATATGCTCT 0.388000 53 395 0 0 1 0 0 PCDHA8 0 broad.mit.edu 37 5 140222482 140222482 + Missense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:140222482G>A ENST00000531613.1 + 1 1576 c.1576G>A c.(1576-1578)Gag>Aag p.E526K PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_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 NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACCACGAGGAGCTAGA 0.677000 115 946 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542683 133542683 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:133542683G>A ENST00000409261.1 - 14 2074 c.1701C>T c.(1699-1701)ggC>ggT p.G567G NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 567 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CATGGCCTTGGCCCTGTGGGC 0.542000 62 427 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578525 7578525 + Nonsense_Mutation SNP G G T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:7578525G>T ENST00000420246.2 - 5 537 c.405C>A c.(403-405)tgC>tgA p.C135* TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 135 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP). 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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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) TGGCCAGTTGGCAAAACATCT 0.567000 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) 23 173 3.28513e-13 3.45505e-13 1 1 0 KCNH1 3756 broad.mit.edu 37 1 211256132 211256132 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:211256132C>T ENST00000367007.4 - 5 717 c.548G>A c.(547-549)cGc>cAc p.R183H KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 183 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTCTGCCAGGCGGGAGTGCTT 0.547000 147 499 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043947 25043947 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr14:25043947C>T ENST00000216336.2 - 3 309 c.273G>A c.(271-273)gcG>gcA p.A91A NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 91 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.A91A(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) TGGCTCTGCGCGCAGTGATGT 0.532000 103 361 0 0 1 0 0 IFNL1 282618 broad.mit.edu 37 19 39787112 39787112 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:39787112C>T ENST00000333625.2 + 1 148 c.51C>T c.(49-51)gcC>gcT p.A17A NM_172140.1 NP_742152.1 interferon, lambda 1 TAGGCTTGGCCGTGGCAGGCC 0.587000 49 365 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621444 179621444 + Missense_Mutation SNP T T C TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:179621444T>C ENST00000589042.1 - 46 10983 c.10759A>G c.(10759-10761)Aca>Gca p.T3587A TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3273 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTCCTTTGTGAAAGAGGAA 0.403000 24 191 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843497 4843497 + Missense_Mutation SNP T T G TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:4843497T>G ENST00000322110.5 + 1 947 c.882T>G c.(880-882)ttT>ttG p.F294L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAATGTCTTTCTGCTAATCC 0.423000 22 453 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 12 139 0 0 1 0 0 IRF2 3660 broad.mit.edu 37 4 185340717 185340717 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:185340717C>T ENST00000393593.3 - 3 300 c.93G>A c.(91-93)aaG>aaA p.K31K IRF2_ENST00000512020.1_5'UTR NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 31 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GAAAAATCTTCTTTTCCTGaa 0.423000 20 166 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56356676 56356676 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:56356676G>A ENST00000340482.3 - 4 932 c.756C>T c.(754-756)aaC>aaT p.N252N MPO_ENST00000225275.3_Silent_p.N220N P05164 PERM_HUMAN myeloperoxidase 220 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CCGGGAAGCCGTTGCGCTTGA 0.731000 9 43 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203798664 203798664 + Missense_Mutation SNP G G T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:203798664G>T ENST00000545588.1 + 5 4211 c.384G>T c.(382-384)caG>caT p.Q128H ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 128 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTCTGTCCAGTCCAATCCTT 0.478000 53 520 2.81731e-22 3.12465e-22 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 11 139 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62993388 62993388 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:62993388G>A ENST00000561311.1 + 16 1901 c.1671G>A c.(1669-1671)acG>acA p.T557T TLN2_ENST00000306829.6_Silent_p.T557T Q9Y4G6 TLN2_HUMAN talin 2 557 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CGGCCGGAACGGCTTCAGTTG 0.418000 38 218 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173337529 173337529 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:173337529C>T ENST00000265085.5 + 2 2583 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 377 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTACAGGATCGCCCCAGGAC 0.368000 75 422 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80632702 80632702 + Missense_Mutation SNP G G T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:80632702G>T ENST00000458043.2 + 9 868 c.862G>T c.(862-864)Gta>Tta p.V288L OTOGL_ENST00000547103.1_Missense_Mutation_p.V288L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CACCAAATGTGTACTCACACC 0.443000 10 57 0.000442599 0.000442599 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 13 98 0 0 1 0 0 AQPEP 0 broad.mit.edu 37 5 115327959 115327959 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:115327959C>T ENST00000357872.4 + 5 1369 c.1245C>T c.(1243-1245)caC>caT p.H415H AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 415 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TTGTCTCCCACGAGATTGGAC 0.388000 62 381 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 15 122 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830345 231830345 + Missense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:231830345G>A ENST00000439617.2 + 2 894 c.841G>A c.(841-843)Gca>Aca p.A281T DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 281 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGCCCAGGCCGCAAGGAACAG 0.612000 31 342 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296394 79296394 + Silent SNP C C T rs140968213 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:79296394C>T ENST00000419573.3 - 16 2521 c.2247G>A c.(2245-2247)tcG>tcA p.S749S RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 749 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGCTCGGTGACGATGTCTTGG 0.637000 51 428 0 0 1 0 0 CRYAB 1410 broad.mit.edu 37 11 111780950 111780950 + Missense_Mutation SNP G G T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:111780950G>T ENST00000533971.1 - 2 516 c.425C>A c.(424-426)cCa>cAa p.P142Q CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron P02511 CRYAB_HUMAN crystallin, alpha B 0 anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat cytoplasm|nucleus protein homodimerization activity|structural constituent of eye lens|unfolded protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GTTATGGCTTGGGACTGGAAT 0.418000 15 90 2.94398e-08 2.99305e-08 1 1 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 11 351 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 10 1165 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034614 17034615 + RNA INS - - CC TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:17034614_17034615insCC ENST00000492551.1 - 0 194 NR_026567.1 TCAGCGCCTCACCCCCTCCGAG 0.728 8 10 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 8 232 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 8 97 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 12 1157 --- --- --- --- LCE4A 199834 broad.mit.edu 37 1 152681693 152681698 + In_Frame_Del DEL TGTGGT TGTGGT - rs74871420 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:152681693_152681698delTGTGGT ENST00000368777.1 + 2 398_403 c.142_147delTGTGGT c.(142-147)del p.CG48del LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del Q5TA78 LCE4A_HUMAN late cornified envelope 4A 48 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CTCTGGGGGCTGTGGTTGCTGCAGCT 0.578 15 747 --- --- --- --- PRCC 5546 broad.mit.edu 37 1 156761536 156761536 + Frame_Shift_Del DEL C C - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:156761536delC ENST00000271526.4 + 4 1403 c.1131delC c.(1129-1131)gtfs p.V377fs PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.Q380fs*12(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGGCCCTGGTCCCCCCCCAGG 0.527 T TFE3 papillary renal 7 517 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 8 474 --- --- --- --- GAS5 0 broad.mit.edu 37 1 173835779 173835780 + RNA INS - - T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:173835779_173835780insT ENST00000363146.1 - 0 73_74 NR_003942.1 GGGTGCCTCAGTTAAGATAATG 0.416 21 256 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276374 186276376 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:186276374_186276376delCCA ENST00000445192.2 + 7 1568_1570 c.1523_1525delCCA c.(1522-1527)ccc>c p.PT508del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PT467del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT465del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT415del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 508 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P508H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACCACCACCAA 0.645 9 1084 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 424 --- --- --- --- TAF1B 9014 broad.mit.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:9989570_9989571insA ENST00000263663.5 + 3 374_375 c.186_187insA c.(184-189)ctaaaafs p.LK62fs TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 62 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity p.K63fs*1(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACCGGGGGCTTAAAAAAAAAAA 0.337 8 44 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 8 251 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 8 607 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 7 292 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 20 291 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 6 11 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 9 452 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143939 160143940 + Frame_Shift_Ins INS - - A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr3:160143939_160143940insA ENST00000357388.3 + 17 3007_3008 c.2556_2557insA c.(2554-2559)gaaaaafs p.EK852fs SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 852 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAGCCCCTGACAAAAAAAAGCA 0.322 7 929 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 8 62 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 9 365 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 11 234 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 7 352 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 10 348 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. 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) CCATTCACATCAGCAGCAGCAGC 0.340 7 279 --- --- --- --- FHDC1 85462 broad.mit.edu 37 4 153896050 153896058 + In_Frame_Del DEL CCCGCCGCT CCCGCCGCT - rs61753618 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr4:153896050_153896058delCCCGCCGCT ENST00000511601.1 + 12 1795_1803 c.1607_1615delCCCGCCGCT c.(1606-1617)acc>a p.TRRS536del FHDC1_ENST00000260008.3_In_Frame_Del_p.TRRS536del Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 536 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CCCCCGAACACCCGCCGCTCCCGCCTCTC 0.675 7 113 --- --- --- --- CEP72 55722 broad.mit.edu 37 5 640649 640651 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:640649_640651delAGC ENST00000264935.5 + 9 1559_1561 c.1469_1471delAGC c.(1468-1473)gag>g p.EQ490del CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 490 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CGCCTTGCTGAGCAGCAGCAGCA 0.621 7 390 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 7 287 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. 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) AGTAGCTGGGGGTGGTGGTGGTG 0.483 7 1052 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 8 657 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 16 1044 --- --- --- --- PHF15 0 broad.mit.edu 37 5 133914449 133914451 + In_Frame_Del DEL ACC ACC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:133914449_133914451delACC ENST00000395003.1 + 11 1994_1996 c.1815_1817delACC c.(1813-1818)aaa>aa p.KP605del PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_In_Frame_Del_p.KP606del|PHF15_ENST00000282605.4_In_Frame_Del_p.KP649del NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 605 Pro-rich. histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAAGAAGAAACCACCACCACCA 0.660 7 306 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 10 64 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30572795 30572795 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr6:30572795delT ENST00000376511.2 - 11 1482 c.930delA c.(928-930)aafs p.K310fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 310 Interaction with TOX4 (By similarity).|Poly-Lys. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GTGACAGTACTTTTTTTTTCT 0.448 7 312 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 502 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 9 688 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65171408 65171409 + RNA INS - - TTCAGACC rs61067766 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:65171408_65171409insTTCAGACC ENST00000430126.2 + 0 1389 AGGTAAGCTTATTCCCTTCAAA 0.505 8 68 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100350354 100350355 + RNA INS - - A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:100350354_100350355insA ENST00000542585.1 + 0 2774_2775 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCCCCACGGAAAAACTCACC 0.505 87 691 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 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 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 gtgtggagggggaggaggaggag 0.567 10 416 --- --- --- --- TRBV7-7 0 broad.mit.edu 37 7 142120209 142120210 + RNA DEL TG TG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:142120209_142120210delTG ENST00000390377.1 - 0 49 cagacacacatgcatacacaca 0.436 7 396 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 27 253 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 9 59 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994579 11994580 + RNA DEL TG TG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr8:11994579_11994580delTG ENST00000434078.2 + 0 608 NR_027425.1 TGTTCgtgtttgtgtgtgtgtg 0.505 10 122 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 11 669 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 8 665 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 8 835 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 10 335 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 9 630 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958148 63958149 + Frame_Shift_Ins INS - - T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:63958148_63958149insT ENST00000373789.3 - 12 1444_1445 c.1348_1349insA c.(1348-1350)tgafs p.*450fs RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TGTCTCTTCAATTTTTTTTTGT 0.337 7 315 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 7 435 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 10 301 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81052021 81052023 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:81052021_81052023delGCA ENST00000334512.5 + 11 1437_1439 c.865_867delGCA c.(865-867)del p.A293del ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 293 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) agcggcagtggcagcagcagcag 0.650 9 726 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 1518 --- --- --- --- C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr10:118424338delT ENST00000369210.3 - 4 449 c.395delA c.(394-396)acfs p.N132fs C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 132 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CTTGTAGCAGTTTTTGGCCAT 0.567 8 781 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 9 281 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 10 560 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 16 380 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 8 46 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 7 347 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 8 218 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 7 1262 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 10 642 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628997 56628999 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:56628997_56628999delCTG ENST00000266980.4 + 5 984_986 c.691_693delCTG c.(691-693)del p.L234del SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 234 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCCCTATCCCTGCTGCTGCTGC 0.635 8 1243 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:101680156_101680157insT ENST00000261637.4 + 5 558_559 c.384_385insT c.(382-387)gattttfs p.DF128fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 128 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACTTTCCAGAGTTTTTTTTGAC 0.396 7 951 --- --- --- --- ATXN2 6311 broad.mit.edu 37 12 112036754 112036756 + In_Frame_Del DEL GCT GCT - rs10560189 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:112036754_112036756delGCT ENST00000377617.3 - 1 724_726 c.563_565delAGC c.(562-567)ccg>c p.QP188del ATXN2_ENST00000550104.1_In_Frame_Del_p.QP188del|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000542287.2_Intron NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 188 Missing (in Ref. 1; AAB19200 and 5; CAA69589). cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GCGGGCGGCGgctgctgctgctg 0.709 9 3 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 18 871 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 8 384 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 7 34 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32376429 32376429 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr13:32376429delA ENST00000298386.2 + 18 2223 c.2152delA c.(2152-2154)aafs p.K720fs RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 720 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTCAAAATTAAAAAAAAAAG 0.348 17 660 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 10 389 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 299 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|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 8 690 --- --- --- --- BEGAIN 57596 broad.mit.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr14:101005271_101005273delCCT ENST00000556751.1 - 5 4027_4029 c.623_625delAGG c.(622-627)gcc>g p.EA210del BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 274 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCCGCCTCGGCCTCCTCCTCCTC 0.724 8 140 --- --- --- --- OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Splice_Site DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:28200305delT ENST00000354638.3 - 17 1996 c.1842_splice c.e17+1 p.K614_splice OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 614 K -> E (in OCA2).|K -> N (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTACCTTTTTTTGGAG 0.443 Oculocutaneous Albinism 7 809 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 10 387 --- --- --- --- RP11-114H24.7 0 broad.mit.edu 37 15 78208889 78208891 + RNA DEL CCT CCT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:78208889_78208891delCCT ENST00000565869.1 + 0 26_28 GGCCGAGGCGCCTCCTCCTCCTC 0.635 7 523 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 11 36 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 13 153 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 8 14 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 8 1315 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 7 95 --- --- --- --- CTRL 1506 broad.mit.edu 37 16 67963919 67963919 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr16:67963919delT ENST00000574481.1 - 7 1274 c.713delA c.(712-714)acfs p.N238fs NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 238 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CACATTGCAGTTTTTGGTGCC 0.552 8 695 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991716 72991718 + In_Frame_Del DEL CCG CCG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 7 724 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 9 1262 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 8 203 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 8 401 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 25 476 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44109630 44109631 + Frame_Shift_Ins INS - - G rs147378906 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:44109630_44109631insG ENST00000262419.6 - 14 3342_3343 c.2872_2873insC c.(2872-2874)gctfs p.A958fs KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.A958fs|KANSL1_ENST00000393476.3_Frame_Shift_Ins_p.A252fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.A894fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.A958fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.A958fs NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 958 MLL1 complex protein binding ACTGCCCAGCTGGGGGGTTGTC 0.579 54 415 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 7 507 --- --- --- --- TOB1 10140 broad.mit.edu 37 17 48940610 48940612 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:48940610_48940612delGTG ENST00000499247.2 - 2 1200_1202 c.767_769delCAC c.(766-771)cag>c p.PQ256del TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 256 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) tgttgctgctgtggtggtggtgg 0.517 11 265 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 13 1040 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 9 1116 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112404 112407 + RNA DEL CCAC CCAC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr18:112404_112407delCCAC ENST00000576266.1 + 0 38_41 CTGCCCCGAACCACCCGACCCCGT 0.716 10 53 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48584825 48584826 + Splice_Site INS - - TG TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr18:48584825_48584826insTG ENST00000342988.3 + 7 1441_1442 c.904_splice c.e7+1 p.*A301_splice SMAD4_ENST00000398417.2_Splice_Site_p.*A301_splice|SMAD4_ENST00000588745.1_Intron NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 301 SAD. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.W302R(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CCGGACATTACTGTAAGCTCTT 0.411 52 361 --- --- --- --- CNN2 1265 broad.mit.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C C - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:1037646delC ENST00000263097.4 + 7 1040 c.677delC c.(676-678)acfs p.T226fs CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000606983.1_3'UTR NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 226 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCCGGGACCCGGCGGCAC 0.632 10 1188 --- --- --- --- TLE2 7089 broad.mit.edu 37 19 3028803 3028804 + Splice_Site INS - - G TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:3028803_3028804insG ENST00000262953.6 - 2 287 c.e2-2 TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000455444.2_5'UTR NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCGGGGTCTGGGGGGGGTGT 0.624 16 656 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 9 379 --- --- --- --- ICAM4 3386 broad.mit.edu 37 19 10397718 10397719 + Frame_Shift_Ins INS - - T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:10397718_10397719insT ENST00000393717.2 + 1 39_40 c.30_31insT c.(28-33)ctttttfs p.LF10fs ICAM4_ENST00000380770.3_Frame_Shift_Ins_p.LF10fs|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Frame_Shift_Ins_p.LF10fs NM_022377.3 NP_071772.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 10 cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding p.L13fs*40(1) breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TGTCGCTGCTGTTTTTTTTGGC 0.673 8 132 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 8 1015 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795823 42795824 + Frame_Shift_Ins INS - - C TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:42795823_42795824insC ENST00000572681.2 + 12 5607_5608 c.5539_5540insC c.(5539-5541)cggfs p.R1847fs CIC_ENST00000160740.3_Frame_Shift_Ins_p.R938fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.R938fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 938 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGGTGGAGGGGCCGGCCAGCCA 0.693 """Mis, F, S""" oligodendroglioma 11 714 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 10 940 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 8 198 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 8 528 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 7 249 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 11 359 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr20:58467047delT ENST00000357552.3 - 24 2587 c.2362delA c.(2362-2364)tgfs p.M788fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.M788fs*1(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 7 174 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 7 208 --- --- --- --- ADAMTS5 11096 broad.mit.edu 37 21 28296615 28296615 + Frame_Shift_Del DEL A A - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr21:28296615delA ENST00000284987.5 - 8 2671 c.2550delT c.(2548-2550)ttfs p.F850fs AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 850 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TCTTGGGAACAAAAAAGCTAT 0.478 9 747 --- --- --- --- TCP10L 140290 broad.mit.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr21:33949091delC ENST00000300258.3 - 5 754 c.641delG c.(640-642)gtfs p.G214fs TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCTTCAGACACCCCCCCGTCT 0.478 12 1264 --- --- --- --- NEFH 4744 broad.mit.edu 37 22 29885599 29885604 + In_Frame_Del DEL AGGAAG AGGAAG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:29885599_29885604delAGGAAG ENST00000310624.6 + 4 2003_2008 c.1970_1975delAGGAAG c.(1969-1977)aag>a p.KEE657del NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 663 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TCCCCAGAGAAGGAAGAGGCCAAGTC 0.558 7 637 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 11 774 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 10 526 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. 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 GGTGAAGGGAaggaggaggagga 0.507 11 484 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 7 787 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd 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 7 277 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 9 150 --- --- --- ---