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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 349 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 15 977 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55047614 55047614 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:55047614C>T ENST00000330807.5 - 5 646 c.509G>A c.(508-510)cGc>cAc p.R170H ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H|ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 170 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) ATCAGCCCAGCGGTTCACAGT 0.483000 109 113 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57650476 57650476 + Splice_Site SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:57650476G>A ENST00000451169.2 + 4 488 c.e4-1 DHX40_ENST00000251241.4_Splice_Site|DHX40_ENST00000425628.3_Splice_Site Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTGAACATTAGGAGACAGCAA 0.368000 185 621 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166418730 166418730 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:166418730T>C ENST00000402744.4 + 9 1679 c.1399T>C c.(1399-1401)Tgg>Cgg p.W467R NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 467 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATGGAATGGTGGAAAATGAT 0.289000 13 286 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16797152 16797152 + Missense_Mutation SNP G G A rs78725797 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:16797152G>A ENST00000187762.2 + 5 699 c.608G>A c.(607-609)cGc>cAc p.R203H NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 203 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CAGCAGACCCGCTGGCTCCCA 0.562000 5 189 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70048804 70048804 + Missense_Mutation SNP G G C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:70048804G>C ENST00000330891.5 - 10 2116 c.1890C>G c.(1888-1890)atC>atG p.I630M BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.I524M|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 630 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CCACAATGTTGATCCCACTGA 0.468000 89 268 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42360832 42360832 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:42360832G>A ENST00000298119.4 + 4 2954 c.1765G>A c.(1765-1767)Gtg>Atg p.V589M LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 589 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCCCCAGTCCGTGTCCAAACA 0.463000 HNSCC(30;0.082) 79 248 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154596629 154596629 + Missense_Mutation SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:154596629A>G ENST00000404039.1 + 15 1897 c.1310A>G c.(1309-1311)tAc>tGc p.Y437C DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C|DPP6_ENST00000377770.3_Missense_Mutation_p.Y501C|DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 501 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTTTGCAGCTACTTCCTGAGC 0.577000 11 33 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92628035 92628035 + Nonsense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:92628035C>T ENST00000298875.4 + 16 2581 c.2296C>T c.(2296-2298)Caa>Taa p.Q766* NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 766 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) CTGCCTTTGTCAAGATTTTTA 0.318000 39 290 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 7 224 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152552704 152552704 + Splice_Site SNP T T A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:152552704T>A ENST00000367255.5 - 114 21464 c.e114-2 SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTAAAACCCTAAAAAAAAAG 0.338000 HNSCC(10;0.0054) 5 144 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111368263 111368263 + Missense_Mutation SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr13:111368263A>G ENST00000375774.3 + 1 935 c.473A>G c.(472-474)gAc>gGc p.D158G ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 158 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) TGCAGTTCGGACCGCCTCCCG 0.711000 60 140 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47322169 47322169 + Missense_Mutation SNP A A T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:47322169A>T ENST00000295454.3 + 5 779 c.487A>T c.(487-489)Atg>Ttg p.M163L GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 163 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGCATGTATGATGGATCTTCG 0.423000 18 274 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72744255 72744255 + Missense_Mutation SNP G G C rs1064197 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:72744255G>C ENST00000252037.4 + 4 437 c.368G>C c.(367-369)tGc>tCc p.C123S FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S|FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 123 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.C123S(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) ACGCTGGGCTGCCCTCCCTTG 0.547000 7 279 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72744195 72744195 + Missense_Mutation SNP G G A rs3950376 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:72744195G>A ENST00000252037.4 + 4 377 c.308G>A c.(307-309)cGg>cAg p.R103Q FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 103 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.R103Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGAGCATGCGGAGAGGAGAG 0.537000 6 225 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104077 53104077 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:53104077C>T ENST00000408890.4 + 1 729 c.713C>T c.(712-714)cCg>cTg p.P238L NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 238 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTCTGAAGCCGAGCCTCGGC 0.652000 93 301 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 16 317 0 0 1 0 0 PAGE1 8712 broad.mit.edu 37 X 49459355 49459355 + Missense_Mutation SNP A A C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:49459355A>C ENST00000376150.3 - 2 151 c.19T>G c.(19-21)Tta>Gta p.L7V NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 7 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) CGATAGATTAATCTTCTTAGA 0.373000 45 61 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65638816 65638816 + Missense_Mutation SNP G G T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:65638816G>T ENST00000307998.6 - 4 409 c.179C>A c.(178-180)aCc>aAc p.T60N EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 60 EGF-like 1; atypical. blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) CTCAGGGATGGTCAGACACTC 0.642000 71 526 3.61678e-42 4.01569e-42 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 16 310 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105563588 105563588 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:105563588G>A ENST00000314641.5 - 7 1147 c.931C>T c.(931-933)Cgg>Tgg p.R311W BVES_ENST00000446408.2_Missense_Mutation_p.R311W|BVES_ENST00000336775.5_Missense_Mutation_p.R311W NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 311 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity p.R311W(1) NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GAGGTACCCCGAAGAAACTGG 0.478000 70 388 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74283929 74283929 + Missense_Mutation SNP C C G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:74283929C>G ENST00000262765.5 - 6 3529 c.3350G>C c.(3349-3351)gGg>gCg p.G1117A NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1117 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CAGTTCCTTCCCTGCTTCTTG 0.562000 19 449 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 8 84 0 0 1 0 0 MRGPRF 116535 broad.mit.edu 37 11 68773653 68773653 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:68773653G>A ENST00000309099.6 - 3 507 c.125C>T c.(124-126)cCg>cTg p.P42L MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 42 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGCCGGAGGCGGCAGCATCGC 0.632000 72 192 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26491074 26491074 + Missense_Mutation SNP A A C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:26491074A>C ENST00000295589.3 - 2 339 c.145T>G c.(145-147)Tcc>Gcc p.S49A NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 49 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AATATCAAGGAGTACAAGAGA 0.547000 44 400 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57282266 57282266 + Silent SNP A A C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:57282266A>C ENST00000288266.3 + 10 897 c.750A>C c.(748-750)acA>acC p.T250T NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 250 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TGCAACAGACAATAGAGGATT 0.428000 154 462 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729807 41729807 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:41729807C>T ENST00000242208.4 - 3 968 c.722G>A c.(721-723)cGg>cAg p.R241Q INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 241 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACAGGCAATCCGAACGTCCAG 0.572000 TSP Lung(11;0.080) 43 196 0 0 1 0 0 DARS2 55157 broad.mit.edu 37 1 173795824 173795824 + Splice_Site SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:173795824G>A ENST00000361951.4 + 2 854 c.e2-1 DARS2_ENST00000239457.5_Splice_Site NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) TTTTTTTAAAGAATTCAGTAG 0.348000 16 302 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47453870 47453870 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:47453870C>T ENST00000265562.4 + 23 4353 c.4276C>T c.(4276-4278)Cgg>Tgg p.R1426W PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1426 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity p.R1426W(1) breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCAGCTGGTGCGGCGCATGCG 0.647000 5 197 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 160 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160260455 160260455 + Missense_Mutation SNP G G T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:160260455G>T ENST00000264431.4 + 13 2419 c.2000G>T c.(1999-2001)aGa>aTa p.R667I NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 667 Ras-associating. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AAACAAAGAAGACTTCCAGAT 0.438000 48 662 5.20006e-24 5.56886e-24 1 1 0 TSHZ2 128553 broad.mit.edu 37 20 51870106 51870106 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:51870106G>A ENST00000371497.5 + 2 996 c.109G>A c.(109-111)Ggt>Agt p.G37S TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 37 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ggaggaCAGCGGTTCAGTAGC 0.532000 46 162 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977753 107977753 + Nonsense_Mutation SNP T T A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:107977753T>A ENST00000372129.2 - 1 1898 c.1822A>T c.(1822-1824)Aaa>Taa p.K608* NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 608 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TTCAGAGATTTTCCACGTTCA 0.542000 438 489 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 8 573 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15678782 15678782 + Missense_Mutation SNP A A T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:15678782A>T ENST00000380701.3 + 10 1431 c.1103A>T c.(1102-1104)aAt>aTt p.N368I CCDC171_ENST00000297641.3_Missense_Mutation_p.N368I NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 368 Glu-rich. TTCTCCAAAAATAAGAAACTA 0.308000 47 184 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554036 140554036 + Silent SNP G G T rs17844465 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:140554036G>T ENST00000231137.3 + 1 1794 c.1620G>T c.(1618-1620)gcG>gcT p.A540A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 540 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCCCCGCGCTGAGCAGCG 0.701000 8 495 0.00829132 0.00851693 1 1 0 ARHGEF10 9639 broad.mit.edu 37 8 1882002 1882002 + Missense_Mutation SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:1882002A>G ENST00000518288.1 + 27 3351 c.3188A>G c.(3187-3189)aAg>aGg p.K1063R ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K1064R O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1064 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) AAAGTGATCAAGTTAGGCGTC 0.433000 177 501 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 13 808 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8666006 8666006 + Missense_Mutation SNP G G T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:8666006G>T ENST00000270328.4 - 5 882 c.616C>A c.(616-618)Cca>Aca p.P206T ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P206T|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 206 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AGCCACCATGGCCGCCCTTTC 0.627000 32 178 1.80694e-10 1.89478e-10 1 1 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 4 120 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10721628 10721628 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:10721628C>T ENST00000283025.2 - 7 1341 c.1270G>A c.(1270-1272)Gac>Aac p.D424N TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 424 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TGCAGGGTGTCGTCGATGGTG 0.542000 8 220 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 14 279 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118165302 118165302 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:118165302C>T ENST00000427715.2 + 6 678 c.244C>T c.(244-246)Cgg>Tgg p.R82W SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000456015.2_Missense_Mutation_p.R131W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 131 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCCCTCTAAGCGGCTGACATT 0.507000 37 140 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61549234 61549234 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:61549234G>A ENST00000278836.5 + 22 3050 c.2954G>A c.(2953-2955)cGc>cAc p.R985H MYRF_ENST00000389602.4_Missense_Mutation_p.R376H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R950H NM_001127392.1 NP_001120864.1 myelin regulatory factor GGCCGGGCCCGCCGAGGGGCC 0.687000 94 193 0 0 1 0 0 IGJ 3512 broad.mit.edu 37 4 71522118 71522118 + Silent SNP G G T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:71522118G>T ENST00000254801.4 - 4 577 c.408C>A c.(406-408)gtC>gtA p.V136V IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 136 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) ATACGAGTGGGACCACAGCTG 0.453000 74 224 2.23852e-25 2.43178e-25 1 1 0 USP42 84132 broad.mit.edu 37 7 6189801 6189801 + Silent SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:6189801C>T ENST00000306177.5 + 13 2132 c.1974C>T c.(1972-1974)aaC>aaT p.N658N NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 658 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TGACCCTAAACGGTGCTAATA 0.567000 34 134 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42079807 42079807 + Silent SNP G G T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:42079807G>T ENST00000395925.3 - 7 942 c.858C>A c.(856-858)gcC>gcA p.A286A GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 286 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GGCTCGGCCTGGCTGACAGCC 0.468000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 50 431 2.76378e-25 2.98094e-25 1 1 0 NUAK1 9891 broad.mit.edu 37 12 106461627 106461627 + Silent SNP G G A rs143829749 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:106461627G>A ENST00000261402.2 - 7 2318 c.939C>T c.(937-939)agC>agT p.S313S NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 313 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 AGTCACACACGCTGCTCTTAT 0.587000 71 263 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216496975 216496975 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:216496975C>T ENST00000366943.2 - 8 1777 c.1391G>A c.(1390-1392)cGt>cAt p.R464H USH2A_ENST00000366942.3_Missense_Mutation_p.R464H|USH2A_ENST00000307340.3_Missense_Mutation_p.R464H O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 464 Laminin N-terminal. R -> C (in USH2A; uncertain pathogenicity). 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) GTATCCAGGACGATAATTTGG 0.373000 HNSCC(13;0.011) 179 646 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 11 583 0 0 1 0 0 PRICKLE1 0 broad.mit.edu 37 12 42854329 42854329 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:42854329T>C ENST00000455697.1 - 8 2063 c.1778A>G c.(1777-1779)gAg>gGg p.E593G RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 593 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CTTTAAGGACTCTGCACTCCT 0.438000 168 690 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31876575 31876575 + Silent SNP C C T rs150828161 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:31876575C>T ENST00000253354.1 + 3 305 c.144C>T c.(142-144)aaC>aaT p.N48N NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 48 extracellular space lipid binding AGGACCACAACGCCACCAGCA 0.642000 65 205 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 14 821 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145323670 145323670 + Missense_Mutation SNP A A C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:145323670A>C ENST00000342960.5 + 27 3542 c.3507A>C c.(3505-3507)gaA>gaC p.E1169D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1169 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAAAGGACGAAGAAGAGGAAG 0.463000 122 4193 0 0 1 0 0 SPACA7 122258 broad.mit.edu 37 13 113053418 113053418 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr13:113053418G>A ENST00000375699.3 + 3 359 c.187G>A c.(187-189)Gag>Aag p.E63K SPACA7_ENST00000283550.3_Missense_Mutation_p.E94K Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 94 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 TGGTGGTTCTGAGAATTACCA 0.353000 35 160 0 0 1 0 0 ESCO2 157570 broad.mit.edu 37 8 27634027 27634027 + Silent SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:27634027C>T ENST00000305188.8 + 3 440 c.202C>T c.(202-204)Ctg>Ttg p.L68L ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 68 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) AATAAATAGACTGCCATCAGC 0.368000 SC Phocomelia syndrome 68 182 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195710989 195710989 + RNA SNP G G A rs2620604 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:195710989G>A ENST00000427841.1 - 0 743 NR_003264.2 TTACCCTCCCGTATAAGGTGT 0.617000 9 331 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52942354 52942354 + Silent SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:52942354A>G ENST00000332323.6 + 4 1741 c.1680A>G c.(1678-1680)gaA>gaG p.E560E ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.E547E NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ATACTGGAGAAAAGCCTTACA 0.433000 4 69 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785420 24785420 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:24785420C>T ENST00000396789.4 + 2 2288 c.563C>T c.(562-564)aCg>aTg p.T188M LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 188 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) GAGGCTGTCACGGGCTTCCTG 0.667000 138 331 0 0 1 0 0 SAC3D1 29901 broad.mit.edu 37 11 64812163 64812163 + Missense_Mutation SNP A A C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:64812163A>C ENST00000398846.1 + 2 1430 c.1041A>C c.(1039-1041)gaA>gaC p.E347D SAC3D1_ENST00000531072.1_Missense_Mutation_p.E347D|SAC3D1_ENST00000530213.1_3'UTR NM_013299.3 NP_037431.3 SAC3 domain containing 1 endometrium(2)|lung(1) 3 CAGAGGAGGAAGATGAGGGCA 0.602000 33 231 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 5 207 0 0 1 0 0 P2RY6 0 broad.mit.edu 37 11 73008405 73008405 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:73008405C>T ENST00000393590.2 + 2 1141 c.842C>T c.(841-843)gCg>gTg p.A281V P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V|P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 281 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 GCCTTTGCAGCGGCCTACAAA 0.602000 64 424 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 35051048 35051048 + Silent SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:35051048A>G ENST00000310974.4 - 5 489 c.345T>C c.(343-345)agT>agC p.S115S NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 115 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 TCCGGTACCAACTGGCCAAAA 0.323000 8 309 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 9 322 0.0581538 0.0589344 1 1 0 UNC5D 137970 broad.mit.edu 37 8 35647893 35647893 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:35647893G>A ENST00000287272.2 + 16 2487 c.2467G>A c.(2467-2469)Gct>Act p.A823T UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A892T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 892 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ATCTTATTTCGCTACACAAAG 0.393000 114 392 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75530836 75530836 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:75530836C>T ENST00000339365.2 + 24 3430 c.3268C>T c.(3268-3270)Cgg>Tgg p.R1090W SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 1090 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CAAGGAGATTCGGCAGCTACT 0.488000 185 412 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110754459 110754459 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:110754459G>A ENST00000369787.3 + 1 365 c.338G>A c.(337-339)gGc>gAc p.G113D KCNC4_ENST00000413138.3_Missense_Mutation_p.G113D|KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 113 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) TACCGCACCGGCAAGCTGCAC 0.672000 5 214 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 9 316 0 0 1 0 0 CTSF 8722 broad.mit.edu 37 11 66333389 66333389 + Missense_Mutation SNP C C A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:66333389C>A ENST00000310325.5 - 7 986 c.877G>T c.(877-879)Ggc>Tgc p.G293C NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 293 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAGCAGGAGCCACACATGCCC 0.622000 76 173 4.98926e-31 5.49911e-31 1 1 0 FN1 2335 broad.mit.edu 37 2 216288871 216288871 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:216288871G>A ENST00000354785.4 - 8 1583 c.1214C>T c.(1213-1215)aCt>aTt p.T405I FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000359671.1_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I P02751 FINC_HUMAN fibronectin 1 405 Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACTCACCAGTGTGGTCTGT 0.488000 133 543 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161115979 161115979 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:161115979C>T ENST00000274545.5 + 4 683 c.250C>T c.(250-252)Cgc>Tgc p.R84C RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron|GABRA6_ENST00000522269.1_3'UTR Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 84 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTTTTTTTCCGCCAGACCTG 0.408000 TCGA Ovarian(5;0.080) 128 444 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73020596 73020596 + Missense_Mutation SNP G G C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:73020596G>C ENST00000263674.3 + 1 1263 c.913G>C c.(913-915)Gac>Cac p.D305H NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 305 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ATTGGATCAGGACTGCAGGCC 0.632000 136 318 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 35051041 35051041 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:35051041G>A ENST00000310974.4 - 5 496 c.352C>T c.(352-354)Cgg>Tgg p.R118W NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 118 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 GTATAAATCCGGTACCAACTG 0.338000 8 316 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 16 419 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30398961 30398961 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:30398961G>A ENST00000333027.3 + 9 978 c.650G>A c.(649-651)cGc>cAc p.R217H MTMR3_ENST00000401950.2_Missense_Mutation_p.R217H|MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 217 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCCTGGAAGCGCATCCCTGCC 0.512000 6 315 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50813757 50813757 + Silent SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:50813757G>A ENST00000540145.1 + 9 1735 c.1320G>A c.(1318-1320)ctG>ctA p.L440L CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000427738.3_Silent_p.L440L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Silent_p.L437L|CYLD_ENST00000311559.9_Silent_p.L440L Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 440 Interaction with TRAF2.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) CACTTTCTCTGTCAGCCCAGT 0.507000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 82 490 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247920822 247920822 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:247920822T>C ENST00000408896.2 - 1 1160 c.887A>G c.(886-888)gAt>gGt p.D296G NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CCTCTTCATATCCCTGTTCCT 0.428000 143 558 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23869987 23869987 + Silent SNP G G C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:23869987G>C ENST00000405093.3 - 13 1411 c.1341C>G c.(1339-1341)acC>acG p.T447T MYH6_ENST00000356287.3_Silent_p.T447T NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 447 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGTCTCCAGGGTGGCGTTGA 0.582000 55 355 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 15 975 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137323435 137323435 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:137323435C>T ENST00000367748.1 - 6 1175 c.589G>A c.(589-591)Gtg>Atg p.V197M IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M|IL20RA_ENST00000316649.5_Missense_Mutation_p.V308M Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 308 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) AAGTTAATCACGATTTTTTCA 0.318000 40 210 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45818781 45818781 + Silent SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:45818781C>T ENST00000221476.3 - 4 597 c.423G>A c.(421-423)acG>acA p.T141T NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 141 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GTGGGGGCAACGTGTAGCCCT 0.682000 21 124 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 10 273 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119121128 119121128 + Missense_Mutation SNP G G C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:119121128G>C ENST00000264245.4 + 10 2061 c.1529G>C c.(1528-1530)aGa>aCa p.R510T NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 510 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 ACGCCGTGCAGAACACCCCCG 0.592000 12 406 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 22 82 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 79 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126715805 126715805 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:126715805T>C ENST00000309035.6 - 1 654 c.524A>G c.(523-525)cAg>cGg p.Q175R CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTGCCGCCCCTGAGGGATCAT 0.652000 72 193 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596736 39596736 + Silent SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:39596736G>A ENST00000246646.3 - 1 437 c.438C>T c.(436-438)acC>acT p.T146T NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 146 Linker 1.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CGGGGCACACGGTGGACTCGT 0.612000 132 439 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 12 255 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24839663 24839663 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:24839663T>C ENST00000379068.3 + 31 3567 c.3524T>C c.(3523-3525)gTg>gCg p.V1175A POLA1_ENST00000379059.3_Missense_Mutation_p.V1169A P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 1169 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) GGCAGAAAGGTGAAAGCTGGA 0.393000 81 80 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140397360 140397360 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:140397360C>T ENST00000286349.3 + 1 480 c.289C>T c.(289-291)Cgc>Tgc p.R97C NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 97 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCGCTGCTGCCGCAATACCAT 0.542000 63 244 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27544625 27544625 + Missense_Mutation SNP A A C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:27544625A>C ENST00000356183.4 - 5 851 c.836T>G c.(835-837)cTg>cGg p.L279R GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 279 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CTCTTCCCTCAGCTTTCCCAG 0.552000 91 245 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58342409 58342409 + Missense_Mutation SNP C C T rs139799389 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:58342409C>T ENST00000371015.1 + 5 1177 c.710C>T c.(709-711)cCg>cTg p.P237L PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P196L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P196L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P234L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P196L NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 237 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTGCCCACTCCGCCACCCAAG 0.587000 55 201 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833923 61833923 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:61833923C>T ENST00000280772.1 - 37 6907 c.6716G>A c.(6715-6717)cGt>cAt p.R2239H ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2239 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 TTCTTTAACACGCATGCCTTT 0.413000 19 649 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878627 190878627 + Silent SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:190878627T>C ENST00000226798.4 + 6 729 c.507T>C c.(505-507)agT>agC p.S169S FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 169 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AAGCAAAAAGTAAAACAGCAG 0.358000 19 352 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577517 7577517 + Missense_Mutation SNP A A G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:7577517A>G ENST00000420246.2 - 7 896 c.764T>C c.(763-765)aTc>aCc p.I255T TP53_ENST00000359597.4_Missense_Mutation_p.I255T|TP53_ENST00000269305.4_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000413465.2_Missense_Mutation_p.I255T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 255 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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) TTCCAGTGTGATGATGGTGAG 0.582000 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) 59 161 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 21 473 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5892008 5892008 + Missense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:5892008G>A ENST00000581347.1 - 3 700 c.55C>T c.(55-57)Cgc>Tgc p.R19C TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C|RP11-945C19.4_ENST00000577694.1_RNA A6NKL6 T200C_HUMAN transmembrane protein 200C 19 integral to membrane p.R19S(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CTTGGGGGGCGGAGTGGATCC 0.607000 18 126 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933094 43933094 + Silent SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:43933094C>T ENST00000537548.1 - 4 661 c.417G>A c.(415-417)ccG>ccA p.P139P MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P|MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Silent_p.P139P|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Silent_p.P139P O95460 MATN4_HUMAN matrilin 4 139 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) CAGCGACACGCGGCACGCGCT 0.701000 32 65 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45398354 45398354 + Silent SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:45398354G>A ENST00000396128.4 - 5 1712 c.1593C>T c.(1591-1593)gtC>gtT p.V531V KLHL28_ENST00000355081.2_Silent_p.V545V NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 531 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGTGACCACCGACGACATAAA 0.423000 87 516 0 0 1 0 0 TMEM30A 55754 broad.mit.edu 37 6 75965841 75965841 + Missense_Mutation SNP T T C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:75965841T>C ENST00000230461.6 - 7 1392 c.1063A>G c.(1063-1065)Aat>Gat p.N355D TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D|TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 355 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCAGCTGTATTACTACTGTTT 0.358000 30 165 0 0 1 0 0 PXT1 222659 broad.mit.edu 37 6 36368236 36368236 + Nonsense_Mutation SNP G G A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:36368236G>A ENST00000454782.2 - 4 778 c.295C>T c.(295-297)Cga>Tga p.R99* NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 16 peroxisome CTCACCTCTCGAACCATCCTA 0.493000 73 352 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262103 39262103 + Missense_Mutation SNP A A T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:39262103A>T ENST00000391415.1 + 1 520 c.463A>T c.(463-465)Agc>Tgc p.S155C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 155 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ccccagctgcagcatctccag 0.672000 6 97 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50812427 50812427 + Missense_Mutation SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:50812427C>T ENST00000440075.2 + 42 6000 c.5953C>T c.(5953-5955)Cgg>Tgg p.R1985W MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1944W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1944 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) ACTGAGGAACCGGCTTCGGTA 0.642000 48 319 0 0 1 0 0 GLRX3 10539 broad.mit.edu 37 10 131959074 131959074 + Silent SNP C C T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:131959074C>T ENST00000368644.1 + 4 313 c.291C>T c.(289-291)atC>atT p.I97I GLRX3_ENST00000331244.5_Silent_p.I97I NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 97 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CTCAGAAAATCGACCGATTAG 0.378000 101 200 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 7 321 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs 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 8 202 --- --- --- --- CAMTA1 23261 broad.mit.edu 37 1 7811329 7811329 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:7811329delA ENST00000303635.7 + 20 4967 c.4760delA c.(4759-4761)cafs p.Q1587fs CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K1589fs*33(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTATGAACAAAAAAAATTC 0.473 T WWTR1 epitheliod hemangioendothelioma 9 1459 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 1012 --- --- --- --- WI2-3308P17.2 0 broad.mit.edu 37 1 13052821 13052821 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:13052821delT ENST00000436041.1 - 1 177 c.178delA c.(178-180)ggfs p.R60fs PRAMEF6_ENST00000376192.5_Intron lung(3) 3 TTGGGGTGCCTTAAGTCCCTC 0.493 7 1574 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 381 --- --- --- --- CNKSR1 10256 broad.mit.edu 37 1 26514778 26514778 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:26514778delC ENST00000531191.1 + 16 1741 c.734delC c.(733-735)gcfs p.A245fs CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs|CNKSR1_ENST00000374253.5_Frame_Shift_Del_p.A510fs Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 510 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGCCGGGCCCCCCCACCC 0.607 7 279 --- --- --- --- MAST2 23139 broad.mit.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:46494559delT ENST00000361297.2 + 18 2455 c.2172delT c.(2170-2172)ccfs p.P724fs MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 724 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTGCGTCCCTTTTTTTGGAG 0.552 9 1216 --- --- --- --- RP11-435B5.3 0 broad.mit.edu 37 1 143375293 143375293 + RNA DEL T T - rs143007968 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:143375293delT ENST00000431621.1 + 0 523 RP11-435B5.4_ENST00000423249.1_lincRNA CCTATAGCAGttttttttttt 0.368 9 109 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 12 436 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 9 864 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 7 1244 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152086556 152086556 + Translation_Start_Site DEL T T - rs141946179 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:152086556delT ENST00000368804.1 - 0 0 NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGGAGACATTTTTTTTTCT 0.358 7 301 --- --- --- --- NUP210L 91181 broad.mit.edu 37 1 154067525 154067526 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:154067525_154067526insA ENST00000368559.3 - 15 2143_2144 c.2072_2073insT c.(2071-2073)tgafs p.*691fs NUP210L_ENST00000271854.3_Frame_Shift_Ins_p.*691fs NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 691 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATTCAATTCCAAAAAAAATCG 0.475 9 282 --- --- --- --- PRCC 5546 broad.mit.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:156761535_156761536insC ENST00000271526.4 + 4 1402_1403 c.1130_1131insC c.(1129-1131)gccfs p.A377fs 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) CCGGCCCTGGTCCCCCCCCAGG 0.530 T TFE3 papillary renal 8 525 --- --- --- --- CD1D 912 broad.mit.edu 37 1 158151257 158151257 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:158151257delT ENST00000368171.3 + 3 573 c.74delT c.(73-75)ctfs p.L25fs NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 25 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCGCAAAGGCTTTTCCCCCTC 0.592 7 2729 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 8 755 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 7 237 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:182845333delT ENST00000367549.3 + 17 2074 c.1964delT c.(1963-1965)gtfs p.V655fs NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 11 1215 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 10 1185 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 14 444 --- --- --- --- ROCK2 9475 broad.mit.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:11389837delA ENST00000315872.6 - 4 860 c.412delT c.(412-414)ggfs p.W138fs ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTTCTTCCCAAAAAAAGGCA 0.358 7 769 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 672 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 9 548 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del 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 7 425 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109380485 109380487 + In_Frame_Del DEL GAT GAT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:109380485_109380487delGAT ENST00000283195.6 + 20 3616_3618 c.3490_3492delGAT c.(3490-3492)del p.D1168del NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1168 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCATGGGGATGATGATGATG 0.424 10 793 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148683685 148683686 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:148683685_148683686insA ENST00000241416.7 + 10 1938_1939 c.1302_1303insA c.(1300-1305)caaaaafs p.QK434fs ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 434 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.K437fs*5(3) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTGTTGTGCATAAAAAAAAGAG 0.366 8 880 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:167055992delT ENST00000375387.4 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1719 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGATGAACTTTTTTTGGGT 0.423 7 1900 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 10 449 --- --- --- --- FKBP7 51661 broad.mit.edu 37 2 179343217 179343217 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:179343217delT ENST00000424785.2 - 1 68 c.10delA c.(10-12)ccfs p.T4fs FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 4 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAATGCATGGTTTTTGGCATC 0.522 8 1505 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 14 151 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 12 428 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 7 472 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 8 558 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:49723322_49723327delGCGCTG ENST00000449682.2 - 10 1577_1582 c.1216_1221delCAGCGC c.(1216-1221)del p.QR406del MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 392 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 14 813 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 16 595 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 13 1333 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 8 1345 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:99568272_99568273insT ENST00000331335.5 - 5 2717_2718 c.2247_2248insA c.(2245-2250)aataaafs p.NK749fs FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000421999.2_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGCA 0.406 8 991 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 12 1642 --- --- --- --- P2RY13 53829 broad.mit.edu 37 3 151046142 151046142 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:151046142delT ENST00000325602.5 - 2 721 c.702delA c.(700-702)aafs p.K234fs MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 234 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) AATCATATACTTTTTTTGCAA 0.338 9 458 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 7 335 --- --- --- --- SEC62 7095 broad.mit.edu 37 3 169700663 169700664 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:169700663_169700664insA ENST00000337002.4 + 4 478_479 c.420_421insA c.(418-423)gaaaaafs p.EK140fs SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 140 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 aagaaaaagagaaaaaaaaaga 0.277 7 201 --- --- --- --- FNDC3B 64778 broad.mit.edu 37 3 172052809 172052809 + Frame_Shift_Del DEL G G - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:172052809delG ENST00000336824.4 + 15 1816 c.1717delG c.(1717-1719)gafs p.G573fs FNDC3B_ENST00000416957.1_Frame_Shift_Del_p.G573fs|FNDC3B_ENST00000415807.2_Frame_Shift_Del_p.G573fs NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 573 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane p.G573*(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TGACAGGCCTGGACCTCCTAC 0.453 7 1413 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 8 565 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 9 303 --- --- --- --- TLR10 81793 broad.mit.edu 37 4 38774956 38774956 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:38774956delT ENST00000308973.4 - 4 2861 c.2256delA c.(2254-2256)aafs p.K752fs TLR10_ENST00000506111.1_Frame_Shift_Del_p.K752fs|TLR10_ENST00000361424.2_Frame_Shift_Del_p.K752fs|TLR10_ENST00000508334.1_Frame_Shift_Del_p.K752fs NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 752 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 CCAAGTATGCTTTTTTTTCCA 0.388 7 504 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 17 385 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 8 233 --- --- --- --- EXOC1 55763 broad.mit.edu 37 4 56765964 56765965 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:56765964_56765965insA ENST00000381295.2 + 17 2599_2600 c.2251_2252insA c.(2251-2253)aaafs p.K751fs EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.K751fs|EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.K736fs NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 751 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TCTAGAAGCAGAAAAAAAAGAA 0.337 7 573 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 13 391 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 11 446 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 10 247 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 9 297 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del 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 8 391 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 7 512 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 7 459 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_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 12 1171 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132270259 132270259 + Frame_Shift_Del DEL T T - rs35626495 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:132270259delT ENST00000265343.5 - 3 877 c.498delA c.(496-498)aafs p.K166fs AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 166 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATGCTGGCCTTTTTTCCGGC 0.512 8 961 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 7 264 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 15 64 --- --- --- --- KCTD16 57528 broad.mit.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:143853531delA ENST00000507359.2 + 3 2232 c.1141delA c.(1141-1143)aafs p.K383fs KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 383 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CATGAGCAGCAAAAAAAAAGC 0.468 11 443 --- --- --- --- JAKMIP2 9832 broad.mit.edu 37 5 147011063 147011064 + Frame_Shift_Del DEL TC TC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:147011063_147011064delTC ENST00000265272.5 - 14 2254_2255 c.1787_1788delGA c.(1786-1788)afs p.R597fs JAKMIP2_ENST00000333010.6_Frame_Shift_Del_p.R555fs|JAKMIP2_ENST00000507386.1_Frame_Shift_Del_p.R576fs NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 597 Golgi apparatus p.E595fs*17(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGGATCGTCTCTCTCTCTC 0.371 9 203 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 8 840 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 10 1484 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 8 357 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. 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 GCCTCGGAATggaggaggaggag 0.670 8 306 --- --- --- --- SLC26A8 116369 broad.mit.edu 37 6 35912065 35912065 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:35912065delT ENST00000490799.1 - 20 2878 c.2525delA c.(2524-2526)atfs p.N842fs SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 842 Interaction with RACGAP1. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TGGACTTACATTTTTTTGGCT 0.398 7 490 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 7 541 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 7 409 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 12 325 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 16 692 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:100382358delA ENST00000281806.2 - 5 937 c.623delT c.(622-624)tcfs p.F208fs MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GGGTAGAGGGAAAAAAAAAGT 0.343 63 344 --- --- --- --- PPIL6 285755 broad.mit.edu 37 6 109757309 109757309 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:109757309delT ENST00000521072.2 - 2 809 c.229delA c.(229-231)ggfs p.R77fs PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 77 protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) TCCTTTACCCTTTTTTTCTCC 0.338 7 601 --- --- --- --- RP11-506B6.6 0 broad.mit.edu 37 6 112647041 112647042 + RNA INS - - T rs141995828 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:112647041_112647042insT ENST00000587816.1 + 0 111 RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA GGCTTTGCAGCTTTTTTTTTTC 0.450 2 4 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 8 628 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871038 170871040 + In_Frame_Del DEL CAA CAA - rs10592950 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr6:170871038_170871040delCAA ENST00000392092.2 + 3 493_495 c.214_216delCAA c.(214-216)del p.Q95del TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 95 Poly-Gln. Missing. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q72del(3) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) gcagcagcagcaacagcaacagc 0.567 10 271 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 7 172 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 12 78 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 9 134 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 17 725 --- --- --- --- LRRC17 10234 broad.mit.edu 37 7 102584992 102584993 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:102584992_102584993insA ENST00000339431.4 + 4 1559_1560 c.1264_1265insA c.(1264-1266)aaafs p.K422fs LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 422 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TGATGAATGGGAAAAAAAACAT 0.337 8 404 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114271580 114271582 + Splice_Site DEL CAG CAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:114271580_114271582delCAG ENST00000393500.3 + 12 1192 c.e12-1 FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site O15409 FOXP2_HUMAN forkhead box P2 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.?(3) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTTCTGATACcagcagcagcagc 0.512 7 41 --- --- --- --- TAS2R4 50832 broad.mit.edu 37 7 141478753 141478753 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:141478753delT ENST00000247881.2 + 1 512 c.465delT c.(463-465)ccfs p.P155fs SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 155 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) AGGCATCACCTTTTCCTGAAC 0.468 7 1372 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 7 290 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 17 8 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994579 11994580 + RNA DEL TG TG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:11994579_11994580delTG ENST00000434078.2 + 0 608 NR_027425.1 TGTTCgtgtttgtgtgtgtgtg 0.505 11 214 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 9 333 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:24811843delA ENST00000221169.5 - 0 1639 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAATAAAACAAAAAAAAAAT 0.328 17 256 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 7 881 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 12 949 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 329 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145000951 145000953 + Splice_Site DEL CCT CCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr8:145000951_145000953delCCT ENST00000322810.4 - 30 4623_4625 c.4455_splice c.e30+1 p.G1485_splice PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1485 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGGCTGTACCTCCTCCTCCTC 0.621 12 800 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 11 511 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 8 1271 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 9 865 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 7 896 --- --- --- --- PTCH1 5727 broad.mit.edu 37 9 98278959 98278961 + In_Frame_Del DEL TTC TTC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:98278959_98278961delTTC ENST00000375274.2 - 1 286_288 c.142_144delGAA c.(142-144)del p.E48del PTCH1_ENST00000437951.1_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000430669.2_5'UTR Q13635 PTC1_HUMAN patched 1 0 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ctcctccgttttcttcttcttct 0.586 7 508 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 10 281 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 40 945 --- --- --- --- CELP 0 broad.mit.edu 37 9 135962494 135962494 + RNA DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:135962494delC ENST00000411440.2 + 0 1001 NR_001275.2 TCTGAGGCTGCCCCCGTGTCC 0.677 5 10 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137693829 137693829 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr9:137693829delC ENST00000371817.3 + 38 3396 c.2982delC c.(2980-2982)ggfs p.G994fs NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 994 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.G997fs*17(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCCTCCAGGCCCCCCCGGCG 0.657 9 647 --- --- --- --- PTCHD3 374308 broad.mit.edu 37 10 27702951 27702951 + Frame_Shift_Del DEL G G - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:27702951delG ENST00000438700.3 - 1 346 c.229delC c.(229-231)ggfs p.R77fs NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 77 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 ATCGACGGCCGGGGGGGTGCA 0.716 8 382 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 7 741 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 7 871 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 7 865 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 7 774 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 10 417 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 21 871 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 7 217 --- --- --- --- CTSC 1075 broad.mit.edu 37 11 88027341 88027341 + Frame_Shift_Del DEL G G - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:88027341delG ENST00000227266.5 - 7 1339 c.1225delC c.(1225-1227)ttfs p.L409fs NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 409 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TAGCCCACAAGCAGAACAGCA 0.502 15 421 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 15 724 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 7 182 --- --- --- --- VWA5A 4013 broad.mit.edu 37 11 124007800 124007801 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr11:124007800_124007801insA ENST00000456829.2 + 15 1955_1956 c.1704_1705insA c.(1702-1707)gaaaaafs p.EK568fs VWA5A_ENST00000392748.1_Frame_Shift_Ins_p.EK568fs|VWA5A_ENST00000360334.4_Intron NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 568 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CAGCAAGTGATAAAAAAGATGC 0.480 98 305 --- --- --- --- ETV6 2120 broad.mit.edu 37 12 12022502 12022502 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:12022502delC ENST00000396373.4 + 5 882 c.608delC c.(607-609)tcfs p.S203fs NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 203 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCCCTCCGGTCCCCCCTGGAC 0.632 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 9 1729 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:26640046delT ENST00000381340.3 - 40 5925 c.5509delA c.(5509-5511)ggfs p.R1837fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1837 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATCGTCCCTTTTTTTGTTA 0.358 11 786 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA 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 12 932 --- --- --- --- ASIC1 41 broad.mit.edu 37 12 50452565 50452567 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:50452565_50452567delGAG ENST00000228468.4 + 2 401_403 c.16_18delGAG c.(16-18)del p.E9del ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 9 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTGAAGGCCGAGGAGGAGGAGG 0.616 10 470 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 12 1387 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 10 737 --- --- --- --- RP11-74M13.4 0 broad.mit.edu 37 12 57255299 57255300 + RNA INS - - A rs139092727 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:57255299_57255300insA ENST00000557452.1 + 0 720 ATGGAAGAAGGAAaaaaaaata 0.426 9 231 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 8 360 --- --- --- --- RILPL2 196383 broad.mit.edu 37 12 123907633 123907633 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr12:123907633delT ENST00000280571.8 - 3 859 c.563delA c.(562-564)atfs p.N188fs NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 188 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) CCTGCCAGCATTTTTGGCACT 0.468 7 897 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 8 310 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 14 473 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524611 103524612 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr13:103524611_103524612insA ENST00000355739.4 + 13 4165_4166 c.2742_2743insA c.(2740-2745)gtaaaafs p.VK914fs BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.K1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.VK147fs 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) ACACCAAAGTGAAAAAAAAATT 0.431 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 268 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 7 1015 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 7 1077 --- --- --- --- HOMEZ 57594 broad.mit.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:23745310delA ENST00000357460.5 - 2 1291 c.1127delT c.(1126-1128)tafs p.L376fs HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 376 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L376fs*14(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CTGGCACTGTAAAAAAAAGGA 0.488 8 327 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 11 725 --- --- --- --- FAM177A1 283635 broad.mit.edu 37 14 35550228 35550230 + Splice_Site DEL GAA GAA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:35550228_35550230delGAA ENST00000396472.1 + 7 895_897 c.435_splice c.e7-1 p.E152_splice FAM177A1_ENST00000382406.3_Splice_Site_p.E152_splice|FAM177A1_ENST00000280987.4_Splice_Site_p.E175_splice NM_001079519.1 NP_001072987.1 Q8N128 F177A_HUMAN family with sequence similarity 177, member A1 152 breast(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 TTTTTTTTAGgaagaagaagaag 0.330 7 165 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 15 109 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 7 246 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 9 159 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr14:93761193delT ENST00000334746.5 - 3 480 c.173delA c.(172-174)agfs p.K58fs BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGAGGTTCTCTTTTTTTTGTC 0.438 9 957 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 8 412 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23021238 23021239 + Frame_Shift_Ins INS - - T rs145147241 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:23021238_23021239insT ENST00000337451.3 - 4 710_711 c.98_99insA c.(97-99)aggfs p.R33fs NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 33 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GAAGGAGGCCCTTTTTTTTCAA 0.450 10 677 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 9 1009 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR 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 14 358 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 7 563 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:57489984delA ENST00000267811.5 + 8 844 c.540delA c.(538-540)gcfs p.A180fs TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 180 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CCTTGCAAGCAAAAAAAGTCA 0.343 T TEC extraskeletal myxoid chondrosarcoma 7 545 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 11 542 --- --- --- --- CRAMP1L 57585 broad.mit.edu 37 16 1706239 1706239 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:1706239delC ENST00000397412.3 + 10 1580 c.1481delC c.(1480-1482)gcfs p.A494fs LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Frame_Shift_Del_p.A491fs|CRAMP1L_ENST00000293925.5_Frame_Shift_Del_p.A494fs|CRAMP1L_ENST00000262317.4_Intron Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 494 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CCCGAAAGCGCCCCCGGGGAG 0.692 13 152 --- --- --- --- TIGD7 91151 broad.mit.edu 37 16 3350472 3350472 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:3350472delT ENST00000396862.1 - 2 1971 c.143delA c.(142-144)atfs p.N48fs TIGD7_ENST00000268674.2_Frame_Shift_Del_p.N48fs NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 48 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TAACTTCTTATTTTTTTTAAT 0.358 8 706 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 9 292 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 10 1194 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 15 162 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 7 327 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 8 497 --- --- --- --- CTD-2014E2.5 0 broad.mit.edu 37 16 31576130 31576131 + RNA DEL TC TC - rs143339797 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:31576130_31576131delTC ENST00000565692.1 - 0 343 TGAAAGGTGATCTCTCTCTCTC 0.515 2 4 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 10 2106 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72992615 72992617 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:72992615_72992617delTCC ENST00000268489.5 - 2 2100_2102 c.1428_1430delGGA c.(1426-1431)gaa>ga p.EE486del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 486 Poly-Glu. 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) ctcctcttcttcctcctcctcct 0.586 7 289 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 8 9 --- --- --- --- RP11-150D5.2 0 broad.mit.edu 37 16 76268904 76268905 + RNA INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:76268904_76268905insT ENST00000568714.1 - 0 135 cttttcttttctttttttttGC 0.416 9 298 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 10 252 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 7 549 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 8 332 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 11 1623 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 9 220 --- --- --- --- KLHL11 55175 broad.mit.edu 37 17 40011270 40011271 + Frame_Shift_Del DEL TC TC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:40011270_40011271delTC ENST00000319121.3 - 2 908_909 c.848_849delGA c.(847-849)afs p.R283fs NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 283 BACK. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) CTTCAAAGTATCTCTCTCTCTC 0.401 7 368 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 9 940 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 8 95 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050859 58050859 + RNA DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:58050859delC ENST00000586209.1 + 0 158 TTTTTTTTGGCAGTTTTTACT 0.418 7 93 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61560495 61560495 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:61560495delC ENST00000290866.4 + 9 1472 c.1448delC c.(1447-1449)acfs p.T483fs ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000584529.1_Intron NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 483 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGTGGGCGTACCCCCCCTTCC 0.562 7 1606 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 7 445 --- --- --- --- RP11-401F2.3 0 broad.mit.edu 37 17 65241533 65241534 + RNA INS - - C TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:65241533_65241534insC ENST00000585193.1 + 0 372 TGGGGTTTTCTCCCTTTCTCCT 0.673 2 4 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65905759 65905759 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:65905759delA ENST00000321892.4 + 12 3313 c.3252delA c.(3250-3252)ccfs p.P1084fs BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1084 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CACGAAGTCCAAAAAAAATAA 0.308 7 228 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67302911 67302912 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:67302911_67302912insT ENST00000392676.3 - 6 806_807 c.742_743insA c.(742-744)aaafs p.K248fs ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 248 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.I248L(1)|p.I248fs*1(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) AAATTCTTTTATTTTTTTTTCT 0.243 9 248 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 9 445 --- --- --- --- TBC1D16 125058 broad.mit.edu 37 17 77926611 77926612 + Frame_Shift_Ins INS - - G TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr17:77926611_77926612insG ENST00000310924.2 - 4 900_901 c.785_786insC c.(784-786)ctcfs p.L262fs NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 262 Ser-rich. intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CGGAGCTGGACGGGGGGCTGGT 0.653 83 271 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745032 21745033 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:21745032_21745033insT ENST00000319481.3 - 27 2952_2953 c.2746_2747insA c.(2746-2748)gagfs p.E916fs OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.E403fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.E534fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 916 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CACGCACCTCGTCTTCCAGTCC 0.530 111 1158 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745087 21745087 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:21745087delC ENST00000319481.3 - 27 2898 c.2692delG c.(2692-2694)aafs p.E898fs OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.E385fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.E516fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 898 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CTTTGTTTTTCCTCAAGTCGT 0.473 88 974 --- --- --- --- WBP11P1 0 broad.mit.edu 37 18 30091782 30091782 + RNA DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:30091782delT ENST00000567636.1 + 0 157 NR_003558.1 tttctttttctttttttttAA 0.418 8 272 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 9 405 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 12 880 --- --- --- --- UBXN6 80700 broad.mit.edu 37 19 4454085 4454085 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:4454085delT ENST00000301281.6 - 2 213 c.89delA c.(88-90)agfs p.K30fs CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 30 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTTGTGGGCCTTTTCCCTGGG 0.667 11 947 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 10 902 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 7 687 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 10 969 --- --- --- --- COMP 1311 broad.mit.edu 37 19 18896845 18896847 + In_Frame_Del DEL GTC GTC - rs28936669 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:18896845_18896847delGTC ENST00000542601.2 - 12 1707_1709 c.1318_1320delGAC c.(1318-1320)del p.D440del COMP_ENST00000222271.2_In_Frame_Del_p.D473del|COMP_ENST00000425807.1_In_Frame_Del_p.D420del P49747 COMP_HUMAN cartilage oligomeric matrix protein 473 G -> E (in PSACH; mild form).|G -> R (in PSACH; mild form). anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CTCCGTCATTGTCGTCGTCGTCG 0.675 7 158 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 234 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 566 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 20 682 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 7 413 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 14 573 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 9 1616 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:17581679_17581680insT ENST00000246069.6 + 2 646_647 c.300_301insT c.(298-303)atttttfs p.IF100fs DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 100 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 AAGAGTTGATGTTTTTTTTGTG 0.356 8 606 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:24524183_24524185delGGA ENST00000376862.3 + 2 1083_1085 c.450_452delGGA c.(448-453)gtg>gt p.VE150del NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 150 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTACGATGTGGAGGAGGAGGAG 0.547 9 946 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 11 602 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 11 651 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 12 636 --- --- --- --- BCAS1 8537 broad.mit.edu 37 20 52645037 52645037 + Frame_Shift_Del DEL T T - rs143209009 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr20:52645037delT ENST00000395961.3 - 4 783 c.617delA c.(616-618)agfs p.K206fs BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 206 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) ACCTGGCACCTTTTCCTGTCC 0.552 7 1350 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 9 726 --- --- --- --- SLC5A3 6526 broad.mit.edu 37 21 35469260 35469274 + In_Frame_Del DEL ACGGGAAATCTGAAG ACGGGAAATCTGAAG - rs145773467 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr21:35469260_35469274delACGGGAAATCTGAAG ENST00000381151.3 + 2 2275_2289 c.1763_1777delACGGGAAATCTGAAG c.(1762-1779)aac>a p.NGKSED588del MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 588 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 ATCATTCCCAACGGGAAATCTGAAGACAGCATTAA 0.465 38 386 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:17071787delT ENST00000359963.3 - 1 1913 c.1654delA c.(1654-1656)tcfs p.I552fs NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 552 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AATCCAAGGATTTTTTTTGTT 0.408 8 566 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 14 439 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30050682 30050682 + Frame_Shift_Del DEL T T - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:30050682delT ENST00000338641.4 + 5 925 c.484delT c.(484-486)ttfs p.F162fs NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 162 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CAAGCGGGGATTTTTGGCCCA 0.423 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 7 935 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 15 545 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 17 604 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 9 471 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 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 12 451 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 8 559 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 14 29 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 8 543 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 430 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 10 708 --- --- --- --- CAPN6 827 broad.mit.edu 37 X 110494259 110494259 + Frame_Shift_Del DEL A A - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:110494259delA ENST00000324068.1 - 8 1211 c.1044delT c.(1042-1044)ttfs p.F348fs CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 348 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCTTTCGGCCAAAAATAGGGT 0.488 7 1711 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 11 258 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 8 879 --- --- --- --- UTY 7404 broad.mit.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-IB-7646-01A-11D-2154-08 TCGA-IB-7646-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx e26b2473-9399-4eb8-9574-5b934b560740 5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571 g.chrY:15448217_15448218insA ENST00000331397.4 - 16 2778 c.e16-2 UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATGAAGCCCCTAAAAAAAAAAA 0.361 8 71 --- --- --- ---