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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 11 146 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58563985 58563985 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:58563985G>A ENST00000348616.4 + 9 1350 c.1050G>A c.(1048-1050)gcG>gcA p.A350A CDH26_ENST00000244047.5_Silent_p.A350A NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 350 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CTCGCCCAGCGCAAAGCCTCA 0.572000 5 376 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 303 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56525276 56525276 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:56525276C>T ENST00000394048.5 + 6 994 c.730C>T c.(730-732)Cgg>Tgg p.R244W ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 244 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TGGCGTTTTGCGGGTGATACT 0.517000 9 1544 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46215179 46215179 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:46215179G>A ENST00000317683.3 - 2 1708 c.1575C>T c.(1573-1575)taC>taT p.Y525Y NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 525 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GATCATCGCGGTAGAGCGGGT 0.647000 4 192 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5754712 5754712 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:5754712G>A ENST00000425013.2 - 11 1858 c.1634C>T c.(1633-1635)gCc>gTc p.A545V RNF216_ENST00000389902.3_Missense_Mutation_p.A602V NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 545 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGCCTCTTGGGCATATCTGAT 0.463000 6 697 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249150605 249150605 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:249150605G>A ENST00000451251.1 - 6 901 c.556C>T c.(556-558)Cca>Tca p.P186S ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.P181S|ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000306601.4_Missense_Mutation_p.P181S|ZNF692_ENST00000366471.3_Intron NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) AAGGTCTCTGGTGGGGGTCCC 0.557000 42 48 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 164 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102916042 102916042 + RNA SNP T T C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:102916042T>C ENST00000312132.4 - 0 737 AGAGAAATGATGATCATTTTC 0.284000 4 153 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11354301 11354301 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:11354301C>A ENST00000227756.4 - 8 1767 c.1356G>T c.(1354-1356)tgG>tgT p.W452C NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 TGACCAGGTACCACCGGAAGG 0.542000 94 92 2.0191e-50 2.18864e-50 1 1 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 7 227 0 0 1 0 0 RNF181 51255 broad.mit.edu 37 2 85822895 85822895 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:85822895C>T ENST00000441634.1 + 1 48 c.9C>T c.(7-9)tcC>tcT p.S3S RNF181_ENST00000306368.4_Silent_p.S3S Q9P0P0 RN181_HUMAN ring finger protein 181 3 ligase activity|zinc ion binding lung(1)|stomach(1) 2 CCATGGCGTCCTATTTCGATG 0.637000 39 56 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G C rs143982735 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr15:102304884G>C ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 3 71 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072496 134072496 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:134072496G>A ENST00000264360.4 + 1 2027 c.1201G>A c.(1201-1203)Gtg>Atg p.V401M NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 401 Cadherin 4. 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) ACTGGGAGACGTGCCTTTCCG 0.607000 7 1025 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227935771 227935771 + Missense_Mutation SNP G G A rs140772937 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:227935771G>A ENST00000366759.4 + 2 883 c.469G>A c.(469-471)Gca>Aca p.A157T SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157T NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 157 t-SNARE coiled-coil homology 1. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CGTGGCAGACGCATCTGTCCC 0.632000 93 78 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45522763 45522763 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr21:45522763C>T ENST00000291574.4 + 22 3626 c.3451C>T c.(3451-3453)Ccg>Tcg p.P1151S NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1151 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GGAAGTGATGCCGCTCTTCGC 0.592000 5 473 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287900 33287900 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr6:33287900C>T ENST00000374542.5 - 5 1557 c.1353G>A c.(1351-1353)gaG>gaA p.E451E DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 451 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 cttcttcttcctcctcctcct 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 138 0 0 1 0 0 IGKV1D-8 0 broad.mit.edu 37 2 90259784 90259784 + RNA SNP G G T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:90259784G>T ENST00000471857.1 + 0 192 ATGGACATGAGGGTCCCCGCT 0.552000 6 686 1.5842e-08 1.65409e-08 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 24 519 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356192 42356192 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr14:42356192C>T ENST00000554171.1 + 5 2796 c.364C>T c.(364-366)Ctt>Ttt p.L122F LRFN5_ENST00000298119.4_Missense_Mutation_p.L122F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L122F Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 122 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) GTTCAGTGGTCTTTCCAATCT 0.383000 HNSCC(30;0.082) 8 374 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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 6 523 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49186293 49186293 + Silent SNP C C T rs141224157 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:49186293C>T ENST00000340334.7 - 14 1727 c.1359G>A c.(1357-1359)ccG>ccA p.P453P FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000525629.1_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 468 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGTACATCAGCGGTGTACAAT 0.284000 4 205 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443781 81443781 + RNA SNP A A T rs143569743 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr10:81443781A>T ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GACCACAAAGACGAGGAGGAG 0.622000 4 68 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20356758 20356758 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:20356758G>A ENST00000338910.4 - 1 299 c.140C>T c.(139-141)cCg>cTg p.P47L NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GGGCGCGGGCGGTGCCGGCTC 0.706000 4 159 0 0 1 0 0 DKC1 1736 broad.mit.edu 37 X 153994624 153994624 + Missense_Mutation SNP A A G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chrX:153994624A>G ENST00000369550.5 + 5 607 c.397A>G c.(397-399)Atc>Gtc p.I133V NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 133 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGTTGTTTAATCGTGTGCAT 0.537000 Congenital Dyskeratosis 10 120 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127744367 127744367 + Splice_Site SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:127744367C>T ENST00000508053.1 - 14 2052 c.1078_splice c.e14+1 p.D360_splice FBN2_ENST00000508989.1_Splice_Site_p.D327_splice|FBN2_ENST00000262464.4_Splice_Site_p.D360_splice P35556 FBN2_HUMAN fibrillin 2 360 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CGAGGCTTACCGATGCATCGA 0.413000 95 354 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62195959 62195959 + Missense_Mutation SNP T T A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:62195959T>A ENST00000467148.1 - 8 4285 c.4216A>T c.(4216-4218)Atg>Ttg p.M1406L HELZ2_ENST00000427522.2_Missense_Mutation_p.M837L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GCCGGCAGCATGGGCACTGGC 0.697000 11 24 0 0 1 0 0 FAM53C 51307 broad.mit.edu 37 5 137681216 137681216 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:137681216C>T ENST00000239906.5 + 4 1267 c.839C>T c.(838-840)gCc>gTc p.A280V FAM53C_ENST00000434981.2_Missense_Mutation_p.A280V|FAM53C_ENST00000513056.1_Missense_Mutation_p.P90S NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 280 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GATCTGGATGCCCGCAAAACT 0.632000 6 714 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356877 104356877 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:104356877G>A ENST00000374806.1 - 1 406 c.336C>T c.(334-336)aaC>aaT p.N112N GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 109 EF-hand 3. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AGAGCTCCCCGTTGGAAATGT 0.542000 8 554 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 14 435 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35706336 35706336 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:35706336G>A ENST00000314888.9 - 40 5571 c.5218C>T c.(5218-5220)Ccg>Tcg p.P1740S TLN1_ENST00000540444.1_Missense_Mutation_p.P1724S|TLN1_ENST00000464379.1_Intron NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1740 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGGTGAGCGGCTCAAAGTAC 0.607000 5 449 0 0 1 0 0 C4orf32 132720 broad.mit.edu 37 4 113107884 113107884 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:113107884G>A ENST00000309733.4 + 2 373 c.189G>A c.(187-189)ccG>ccA p.P63P NM_152400.2 NP_689613.1 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 63 integral to membrane Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) CTGGTGAGCCGGTTGGAGATG 0.353000 6 654 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41924588 41924588 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:41924588C>T ENST00000317310.4 + 1 45 c.4C>T c.(4-6)Cgg>Tgg p.R2W CD300LG_ENST00000377203.4_Missense_Mutation_p.R2W|CD300LG_ENST00000539718.1_Missense_Mutation_p.R2W|CD300LG_ENST00000293396.8_Missense_Mutation_p.R2W|CD300LG_ENST00000588884.1_Missense_Mutation_p.R2W|CD300LG_ENST00000586233.1_Missense_Mutation_p.R2W NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 2 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GCCCAGAATGCGGCTTCTGGT 0.602000 5 502 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 6 675 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 10 296 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 5 195 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46549566 46549566 + Nonsense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:46549566G>A ENST00000242848.4 - 12 2668 c.2320C>T c.(2320-2322)Cga>Tga p.R774* ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R774* Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 774 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) gctctttctcgttcccgttct 0.512000 5 379 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195965646 195965646 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:195965646G>A ENST00000292823.2 - 10 1189 c.1017C>T c.(1015-1017)tcC>tcT p.S339S PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 339 3 X repeats. cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) AAGTCTTGCCGGAGAAGGGCC 0.607000 4 209 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32407029 32407029 + Silent SNP A A T rs139769264 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:32407029A>T ENST00000265069.8 - 6 984 c.882T>A c.(880-882)gcT>gcA p.A294A NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 294 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding p.A294A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) cagcagcagcagctgctgctg 0.483000 5 236 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 17 229 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50752274 50752274 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr22:50752274C>T ENST00000413817.2 - 14 1243 c.1172G>A c.(1171-1173)cGc>cAc p.R391H NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B CGCCTTGTCGCGGTGGAGGTG 0.677000 4 208 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651483 1651483 + Missense_Mutation SNP G G C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:1651483G>C ENST00000399676.2 + 1 451 c.413G>C c.(412-414)gGc>gCc p.G138A NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 138 8 X 4 AA repeats of C-C-X-P. keratin filament p.G138A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCAAGGGGGGCTGTGGCTCC 0.692000 5 127 0 0 1 0 0 BDKRB1 0 broad.mit.edu 37 14 96730887 96730887 + Missense_Mutation SNP A A G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr14:96730887A>G ENST00000216629.6 + 3 1474 c.868A>G c.(868-870)Att>Gtt p.I290V RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 290 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) GGAGGACTTCATTGACCTGGG 0.522000 165 410 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56481660 56481660 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:56481660C>T ENST00000267101.3 + 6 1135 c.695C>T c.(694-696)gCc>gTc p.A232V ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 232 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GATGAGTGTGCCGGGGGCTGC 0.547000 6 906 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115677 15115677 + Missense_Mutation SNP C C T rs147577833 byFrequency TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:15115677C>T ENST00000253699.3 - 14 2580 c.1967G>A c.(1966-1968)cGc>cAc p.R656H ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 656 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TTTCAGGATGCGGGCTGAAGG 0.562000 8 908 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138649158 138649158 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:138649158G>A ENST00000298480.5 + 9 764 c.690G>A c.(688-690)ccG>ccA p.P230P KCNT1_ENST00000371757.2_Silent_p.P230P|KCNT1_ENST00000486577.2_Silent_p.P191P|KCNT1_ENST00000491806.2_Silent_p.P197P|KCNT1_ENST00000487664.1_Silent_p.P182P|KCNT1_ENST00000263604.3_Silent_p.P211P|KCNT1_ENST00000490355.2_Silent_p.P211P|KCNT1_ENST00000488444.2_Silent_p.P211P B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 230 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCTGGCCGCCGCTGCGGAACC 0.642000 152 307 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3778313 3778313 + Missense_Mutation SNP G G A rs146567070 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:3778313G>A ENST00000245960.5 + 2 942 c.245G>A c.(244-246)cGc>cAc p.R82H CDC25B_ENST00000379598.5_Missense_Mutation_p.R18H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R18H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R68H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R82H|CDC25B_ENST00000467519.1_3'UTR NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 82 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 TTCCGCAGCCGCAGCCGCCTG 0.617000 6 633 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53686084 53686084 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:53686084G>A ENST00000257934.4 + 28 5910 c.5819G>A c.(5818-5820)aGt>aAt p.S1940N ESPL1_ENST00000552462.1_Missense_Mutation_p.S1940N NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1940 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCAGTGCTGAGTCAAGGGGTG 0.527000 31 396 0 0 1 0 0 HRH3 11255 broad.mit.edu 37 20 60791076 60791076 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:60791076G>A ENST00000340177.5 - 3 1608 c.1324C>T c.(1324-1326)Cac>Tac p.H442Y HRH3_ENST00000317393.6_Missense_Mutation_p.H442Y NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 442 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TTCCAGCAGTGCTCCAGGGAG 0.662000 10 32 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724304 49724304 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:49724304G>A ENST00000551245.1 + 13 1787 c.1676G>A c.(1675-1677)tGc>tAc p.C559Y TROAP_ENST00000547923.1_Missense_Mutation_p.C267Y|TROAP_ENST00000257909.3_Missense_Mutation_p.C559Y Q12815 TROAP_HUMAN trophinin associated protein 559 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CTAGAGTCCTGCTGTAGGAGT 0.597000 7 477 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38817290 38817290 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:38817290C>T ENST00000263372.3 + 2 487 c.380C>T c.(379-381)gCg>gTg p.A127V NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 127 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) ATCGCCTTTGCGCTCCTGGGC 0.572000 5 561 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2339217 2339217 + Silent SNP G G C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:2339217G>C ENST00000290974.2 - 5 867 c.528C>G c.(526-528)gtC>gtG p.V176V ZFYVE28_ENST00000509171.1_Silent_p.V129V|ZFYVE28_ENST00000503000.1_Silent_p.V176V|ZFYVE28_ENST00000515312.1_Silent_p.V106V|ZFYVE28_ENST00000515169.1_Silent_p.V106V|ZFYVE28_ENST00000511071.1_Silent_p.V176V NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 176 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CCATGGCCGAGACGTAGCTGC 0.597000 44 185 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1065446 1065446 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:1065446C>T ENST00000264930.5 - 18 2432 c.2389G>A c.(2389-2391)Gca>Aca p.A797T NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 797 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TTCCAGGATGCGGGCCAGGCC 0.657000 7 518 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29556978 29556978 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:29556978G>A ENST00000358273.4 + 22 3359 c.2976G>A c.(2974-2976)atG>atA p.M992I NF1_ENST00000356175.3_Missense_Mutation_p.M992I NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 992 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAACAATGATGTTAAATCTGG 0.338000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 141 294 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114193716 114193716 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:114193716G>A ENST00000434316.2 + 10 1943 c.1584G>A c.(1582-1584)ctG>ctA p.L528L TMCO3_ENST00000375391.1_Intron NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 528 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GCTGTTTCCTGGCTGGAGCGC 0.627000 6 325 0 0 1 0 0 NDUFS6 4726 broad.mit.edu 37 5 1814533 1814533 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:1814533C>T ENST00000274137.5 + 3 285 c.267C>T c.(265-267)ggC>ggT p.G89G NDUFS6_ENST00000469176.1_Silent_p.G89G NM_004553.4 NP_004544.1 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 89 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 7 NADH(DB00157) CGTGCGATGGCGGCGGGGGAG 0.542000 5 504 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9085340 9085340 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:9085340G>A ENST00000433083.2 + 7 1297 c.1152G>A c.(1150-1152)caG>caA p.Q384Q PHC1_ENST00000544916.1_Silent_p.Q429Q|PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000543824.1_Silent_p.Q429Q|PHC1_ENST00000433847.2_3'UTR P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 429 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 agcagcagcagcaacaacagc 0.622000 5 191 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109408155 109408155 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:109408155C>A ENST00000295124.4 + 4 351 c.291C>A c.(289-291)ttC>ttA p.F97L CCDC138_ENST00000470608.1_Intron|CCDC138_ENST00000412964.2_Missense_Mutation_p.F97L NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 97 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 TGGATTCTTTCCATGATTTGA 0.284000 111 162 3.60366e-59 3.9363e-59 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 9 70 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104747966 104747966 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:104747966C>T ENST00000334877.4 + 22 3596 c.3062C>T c.(3061-3063)tCa>tTa p.S1021L KMT2E_ENST00000257745.4_Missense_Mutation_p.S1021L|KMT2E_ENST00000334914.7_Missense_Mutation_p.S76L|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1021L lysine (K)-specific methyltransferase 2E GAACCTGTGTCAGACCTTCAG 0.507000 104 238 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 135 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232104736 232104736 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:232104736C>A ENST00000349938.4 + 9 1055 c.861C>A c.(859-861)gaC>gaA p.D287E ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 287 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) ATAGTGTGGACTTCACGAGGC 0.532000 4 59 1 1 1 1 0 UBN2 254048 broad.mit.edu 37 7 138944016 138944016 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:138944016C>T ENST00000288561.8 + 5 805 c.556C>T c.(556-558)Ccc>Tcc p.P186S UBN2_ENST00000473989.2_Missense_Mutation_p.P269S NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 269 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TTTGCAGGTCCCCAAAATAAA 0.383000 59 162 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27536507 27536507 + RNA SNP G G T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr10:27536507G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CTCCCTTGGGGCTGGACTCCC 0.537000 55 69 3.37225e-12 3.57357e-12 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 6 521 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45133322 45133322 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:45133322G>A ENST00000593880.1 - 2 389 c.95C>T c.(94-96)aCt>aTt p.T32I ZNF334_ENST00000347606.4_Silent_p.L27L|ZNF334_ENST00000457685.2_5'UTR Q9HCZ1 ZN334_HUMAN zinc finger protein 334 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GCAGGGTCCAGTTGCTGCCAT 0.468000 120 455 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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 5 526 0 0 1 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40174482 40174482 + Nonsense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:40174482C>T ENST00000307641.5 + 3 781 c.160C>T c.(160-162)Cga>Tga p.R54* NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000479407.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.R52* NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 54 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CCGGGGGGTGCGAGAGCAGGT 0.562000 4 235 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227935772 227935772 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:227935772C>T ENST00000366759.4 + 2 884 c.470C>T c.(469-471)gCa>gTa p.A157V SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157V NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 157 t-SNARE coiled-coil homology 1. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GTGGCAGACGCATCTGTCCCA 0.632000 95 79 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 176 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76778782 76778782 + Missense_Mutation SNP A A C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chrX:76778782A>C ENST00000373344.5 - 31 7011 c.6797T>G c.(6796-6798)tTg>tGg p.L2266W ATRX_ENST00000395603.3_Missense_Mutation_p.L2228W|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2266 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 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) TTCTTCAGTCAACTCTTCTTC 0.373000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 358 13 0 0 1 0 0 NAA16 79612 broad.mit.edu 37 13 41929345 41929345 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:41929345C>A ENST00000379406.3 + 10 1404 c.1080C>A c.(1078-1080)agC>agA p.S360R NAA16_ENST00000379367.3_Missense_Mutation_p.S360R|NAA16_ENST00000403412.3_Missense_Mutation_p.S360R NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 360 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 ACTTTTTTAGCCCATATGGTA 0.264000 118 516 4.55767e-64 5.05616e-64 1 1 0 ACAD10 80724 broad.mit.edu 37 12 112165781 112165781 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:112165781C>T ENST00000455480.2 + 10 1347 c.1170C>T c.(1168-1170)ccC>ccT p.P390P ACAD10_ENST00000549590.1_Silent_p.P359P|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Silent_p.P359P NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 359 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TTGGCACCCCCTTCTATGTGA 0.517000 391 558 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163003928 163003928 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:163003928G>A ENST00000418842.2 - 3 443 c.189C>T c.(187-189)agC>agT p.S63S GCG_ENST00000375497.3_Silent_p.S63S NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 63 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) CCAGATACTTGCTGTAGTCAC 0.488000 97 568 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866027 139866027 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chrX:139866027G>A ENST00000370532.2 - 1 696 c.505C>T c.(505-507)Cgt>Tgt p.R169C NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 169 6 X 6 AA approximate repeats. p.R169C(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GAAAATCCACGTCTTCCCAAC 0.423000 10 299 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38788474 38788474 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:38788474C>T ENST00000348513.6 - 8 1467 c.687G>A c.(685-687)cgG>cgA p.R229R SMARCE1_ENST00000400122.3_Silent_p.R159R|SMARCE1_ENST00000377808.4_Silent_p.R194R|SMARCE1_ENST00000578044.1_Silent_p.R159R|SMARCE1_ENST00000580419.1_Silent_p.R194R|SMARCE1_ENST00000544009.1_Silent_p.R159R|SMARCE1_ENST00000431889.2_Silent_p.R211R|KRT222_ENST00000476049.1_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 229 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) ACTGGACCTGCCGTTTGAGGA 0.448000 6 493 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1428858 1428858 + Silent SNP T T A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:1428858T>A ENST00000336761.6 + 8 769 c.564T>A c.(562-564)gcT>gcA p.A188A DAZAP1_ENST00000233078.4_Silent_p.A188A|DAZAP1_ENST00000586579.1_3'UTR NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 188 RRM 2. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTAAACGAGCTGAGCCTCGGG 0.627000 30 289 0 0 1 0 0 KCNK7 10089 broad.mit.edu 37 11 65360906 65360906 + Missense_Mutation SNP C C G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:65360906C>G ENST00000394216.2 - 2 982 c.759G>C c.(757-759)aaG>aaC p.K253N KCNK7_ENST00000340313.4_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000394217.2_Intron NM_005714.1|NM_033455.1 NP_005705.1|NP_258416.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 0 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 CCAGGCTCCTCTTCCCCCTTC 0.652000 81 97 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127732106 127732106 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:127732106G>A ENST00000354725.3 + 24 2923 c.2729G>A c.(2728-2730)cGc>cAc p.R910H NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 910 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GGCTACAGCCGCTAAGGAGGG 0.557000 6 556 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288219 216288219 + Missense_Mutation SNP T T C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:216288219T>C ENST00000354785.4 - 9 1616 c.1247A>G c.(1246-1248)aAt>aGt p.N416S FN1_ENST00000443816.1_Missense_Mutation_p.N416S|FN1_ENST00000432072.2_Missense_Mutation_p.N416S|FN1_ENST00000336916.4_Missense_Mutation_p.N416S|FN1_ENST00000426059.1_Missense_Mutation_p.N416S|FN1_ENST00000346544.3_Missense_Mutation_p.N416S|FN1_ENST00000421182.1_Missense_Mutation_p.N416S|FN1_ENST00000359671.1_Missense_Mutation_p.N416S|FN1_ENST00000357867.4_Missense_Mutation_p.N416S|FN1_ENST00000357009.2_Missense_Mutation_p.N416S|FN1_ENST00000323926.6_Missense_Mutation_p.N416S|FN1_ENST00000345488.5_Missense_Mutation_p.N416S|FN1_ENST00000356005.4_Missense_Mutation_p.N416S|FN1_ENST00000446046.1_Missense_Mutation_p.N416S P02751 FINC_HUMAN fibronectin 1 416 Collagen-binding.|Fibronectin type-II 2. 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) CAAGGCACCATTGGAATTTCC 0.448000 36 46 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37132535 37132535 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr14:37132535C>A ENST00000361487.6 + 2 663 c.438C>A c.(436-438)caC>caA p.H146Q PAX9_ENST00000402703.2_Missense_Mutation_p.H146Q|PAX9_ENST00000554201.1_5'UTR P55771 PAX9_HUMAN paired box 9 146 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) ACAAGCAGCACCAGCCGACGC 0.632000 79 169 4.75426e-39 5.11443e-39 1 1 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 248 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 6 489 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28650816 28650816 + Splice_Site SNP C C T rs145831682 byFrequency TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr18:28650816C>T ENST00000280904.6 - 14 2569 c.2125_splice c.e14-1 p.C709_splice DSC2_ENST00000251081.6_Splice_Site_p.C709_splice NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 709 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) AAACAGGATGCCTGGAGGAAG 0.343000 5 291 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229790000 229790000 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:229790000C>T ENST00000258243.2 + 9 4378 c.4242C>T c.(4240-4242)agC>agT p.S1414S NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1414 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CTGTAGGAAGCATAGATGACC 0.423000 5 278 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976647 20976647 + Silent SNP T T A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr16:20976647T>A ENST00000261383.3 - 53 8558 c.8559A>T c.(8557-8559)ccA>ccT p.P2853P DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2853 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCATGGTCAGTGGGGGGATGT 0.458000 13 607 0 0 1 0 0 WDR5 11091 broad.mit.edu 37 9 137017152 137017152 + Splice_Site SNP G G A rs112881246 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:137017152G>A ENST00000358625.3 + 9 802 c.e9+1 WDR5_ENST00000425041.1_Splice_Site NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) ACGCTCATCGGTGAGTGTGGC 0.592000 209 498 0 0 1 0 0 U47924.28 0 broad.mit.edu 37 12 7080041 7080041 + RNA SNP T T A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:7080041T>A ENST00000261406.6 + 0 98 GAAGCCGCGCTGTTCTTATTT 0.547000 14 42 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82882859 82882859 + Splice_Site SNP G G T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:82882859G>T ENST00000298281.4 + 9 4112 c.e9-1 NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TTTTCTTAAAGGTTCTGAGTG 0.338000 22 148 1.22574e-08 1.28929e-08 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 7 254 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 7 96 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724313 49724313 + Missense_Mutation SNP G G T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:49724313G>T ENST00000551245.1 + 13 1796 c.1685G>T c.(1684-1686)aGt>aTt p.S562I TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I Q12815 TROAP_HUMAN trophinin associated protein 562 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm p.S562I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGCTGTAGGAGTGAGCCTGAG 0.592000 7 482 2.0095e-06 2.08284e-06 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62295897 62295897 + Silent SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:62295897G>A ENST00000378024.4 - 5 6266 c.5992C>T c.(5992-5994)Ctg>Ttg p.L1998L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1998 nervous system development nucleus protein binding p.L1998L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGCCTTTCAGGTGTAAGTCC 0.483000 7 1202 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 6 80 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43316118 43316118 + Missense_Mutation SNP T T C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr10:43316118T>C ENST00000374518.4 + 17 2995 c.2932T>C c.(2932-2934)Tgc>Cgc p.C978R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 978 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.C978R(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCACATGCATTGCGGAGCAGC 0.423000 4 238 0 0 1 0 0 ZNF688 146542 broad.mit.edu 37 16 30581293 30581293 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr16:30581293G>A ENST00000223459.6 - 3 1879 c.775C>T c.(775-777)Cgg>Tgg p.R259W ZNF688_ENST00000395219.1_Missense_Mutation_p.R245W NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 GGCGGGTCCCGGTCACCTCGG 0.706000 4 158 0 0 1 0 0 SRFBP1 153443 broad.mit.edu 37 5 121356407 121356407 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:121356407C>A ENST00000339397.4 + 6 1049 c.977C>A c.(976-978)aCa>aAa p.T326K SRFBP1_ENST00000504881.1_3'UTR NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) CATGGGGATACAAGAAATGAC 0.348000 121 116 3.41453e-61 3.75863e-61 1 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116062116 116062116 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr10:116062116G>A ENST00000369271.3 - 12 1712 c.1412C>T c.(1411-1413)gCg>gTg p.A471V AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A524V|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A471V NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 471 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GTTTTTGGCCGCACTCACAAT 0.542000 5 557 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049640 107049640 + Missense_Mutation SNP C C A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:107049640C>A ENST00000409886.3 - 16 2394 c.2307G>T c.(2305-2307)ttG>ttT p.L769F RGPD3_ENST00000304514.7_Missense_Mutation_p.L769F NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 769 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCGCATTTCGCAAAGAACCAT 0.393000 282 853 4.36536e-96 4.88095e-96 1 1 0 GTF3C4 9329 broad.mit.edu 37 9 135554771 135554771 + Nonsense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:135554771C>T ENST00000372146.4 + 2 2329 c.1765C>T c.(1765-1767)Cag>Tag p.Q589* NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 589 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TCAGTCAATGCAGAAAACCCC 0.418000 197 600 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 8 259 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31601685 31601685 + Silent SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:31601685C>T ENST00000170150.3 + 5 573 c.378C>T c.(376-378)tcC>tcT p.S126S NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 126 extracellular region lipid binding CCCAGAGCTCCATCAGGACCC 0.637000 88 276 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 6 242 0 0 1 0 0 PGGT1B 5229 broad.mit.edu 37 5 114548273 114548273 + Missense_Mutation SNP C C G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:114548273C>G ENST00000419445.1 - 9 980 c.960G>C c.(958-960)ttG>ttC p.L320F PGGT1B_ENST00000379615.3_Missense_Mutation_p.L243F NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit 320 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) AGTATGCATGCAAAGCATCTG 0.403000 76 286 0 0 1 0 0 AMH 268 broad.mit.edu 37 19 2250861 2250861 + Missense_Mutation SNP T T G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:2250861T>G ENST00000221496.3 + 4 1344 c.678T>G c.(676-678)agT>agG p.S226R NM_000479.3 NP_000470.2 P03971 MIS_HUMAN anti-Mullerian hormone 226 cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination extracellular space growth factor activity|hormone activity lung(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGGCTGAGTACCGCCCGGC 0.756000 Persistant Mullerian Duct Syndrome (type I and II) 4 43 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45284309 45284309 + Splice_Site SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:45284309G>A ENST00000270279.3 + 2 563 c.e2+1 CBLC_ENST00000341505.4_Splice_Site NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) GCGGAGCCCGGTGAGTAAGCC 0.652000 M AML 8 213 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130674853 130674853 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:130674853C>T ENST00000335791.5 - 4 580 c.305G>A c.(304-306)cGc>cAc p.R102H ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 102 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 CTGGTTCATGCGGAACACGCA 0.677000 4 220 0 0 1 0 0 TBC1D3 729873 broad.mit.edu 37 17 36352489 36352489 + Translation_Start_Site SNP A A C rs4796259 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:36352489A>C ENST00000537432.1 - 0 359 RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3 intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TATAGCATCAAATATCTCATC 0.388000 15 122 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 27 387 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436563 436563 + Missense_Mutation SNP T T C TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:436563T>C ENST00000338977.5 - 2 1705 c.1657A>G c.(1657-1659)Acc>Gcc p.T553A ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TGTCTAAAGGTTTTGCCACAT 0.418000 6 905 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 9 97 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 17 298 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 7 274 --- --- --- --- ABCA4 24 broad.mit.edu 37 1 94466574 94466574 + Frame_Shift_Del DEL C C - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:94466574delC ENST00000370225.3 - 46 6456 c.6370delG c.(6370-6372)tcfs p.V2124fs ABCA4_ENST00000535881.1_Frame_Shift_Del_p.V243fs|ABCA4_ENST00000536513.1_Frame_Shift_Del_p.V394fs NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2124 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GATGTGAGGACCACAGCCCTC 0.617 120 222 --- --- --- --- WDR3 10885 broad.mit.edu 37 1 118485115 118485115 + Frame_Shift_Del DEL C C - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:118485115delC ENST00000349139.4 + 10 1092 c.1045delC c.(1045-1047)tgfs p.L349fs NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 349 nuclear membrane|nucleolus p.L349V(1) breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TGAAATGAGTCTGCAAGATGA 0.333 195 288 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 8 241 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 8 576 --- --- --- --- AC067960.1 0 broad.mit.edu 37 2 121840249 121840249 + RNA DEL G G - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr2:121840249delG ENST00000441053.1 - 0 206 GGCTAGGGCTGGGGGGATGGT 0.602 4 7 --- --- --- --- DYNC1LI1 51143 broad.mit.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:32571050delT ENST00000273130.4 - 11 1391 c.1288delA c.(1288-1290)ttfs p.I430fs DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 430 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 TTTGGATCAATTTTTTTTGAC 0.398 7 233 --- --- --- --- HESX1 8820 broad.mit.edu 37 3 57232250 57232250 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:57232250delT ENST00000295934.3 - 4 569 c.533delA c.(532-534)atfs p.N178fs HESX1_ENST00000473921.1_Frame_Shift_Del_p.N144fs NM_003865.2 NP_003856.1 Q9UBX0 HESX1_HUMAN HESX homeobox 1 178 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) TGTGTTGAAATTTTTTTTCGC 0.308 7 397 --- --- --- --- SLC9A9 285195 broad.mit.edu 37 3 143551065 143551066 + Splice_Site INS - - A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:143551065_143551066insA ENST00000316549.6 - 2 384 c.e2-2 NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TTATAAGGCCTAAAAAAAAAAG 0.347 8 120 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 335 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 483 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - AT rs59536241 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:68632418_68632419insAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 14 12 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 9 513 --- --- --- --- MMAA 166785 broad.mit.edu 37 4 146563617 146563619 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:146563617_146563619delCTT ENST00000281317.5 + 3 1752_1754 c.542_544delCTT c.(541-546)cct>c p.PS181del MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 181 mitochondrion GTP binding|nucleoside-triphosphatase activity p.P181H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTGTGGACCCTTCTTCTTGTAC 0.429 280 1191 --- --- --- --- FHDC1 85462 broad.mit.edu 37 4 153893619 153893619 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:153893619delA ENST00000511601.1 + 11 1497 c.1309delA c.(1309-1311)aafs p.K438fs FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 438 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CTGTGAAGACAAAAAAACCAT 0.403 8 767 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 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) GCTCCACACAAAGAAGGTTTGTG 0.414 7 864 --- --- --- --- ZDHHC11 79844 broad.mit.edu 37 5 848671 848671 + Frame_Shift_Del DEL G G - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:848671delG ENST00000283441.8 - 2 710 c.327delC c.(325-327)ccfs p.P109fs ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.P109fs NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 109 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AGAGGGGCATGGGCTGAGAAT 0.592 7 57 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 15 560 --- --- --- --- CARD6 84674 broad.mit.edu 37 5 40853093 40853094 + Frame_Shift_Ins INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:40853093_40853094insT ENST00000254691.5 + 3 1858_1859 c.1659_1660insT c.(1657-1662)gtttttfs p.VF553fs CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 553 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CTTCAGCTGTGTTTTTTTTCAC 0.416 9 789 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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 7 1091 --- --- --- --- VDAC1 7416 broad.mit.edu 37 5 133316639 133316639 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr5:133316639delT ENST00000265333.3 - 6 576 c.332delA c.(331-333)atfs p.N111fs VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 111 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) GATTTTAGCATTTTTTTTCCT 0.403 7 408 --- --- --- --- ZNF322 79692 broad.mit.edu 37 6 26637624 26637624 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr6:26637624delT ENST00000415922.2 - 4 1803 c.1158delA c.(1156-1158)aafs p.K386fs ZNF322_ENST00000471278.1_Frame_Shift_Del_p.K386fs NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding GCTCAAGACCTTTTTCACTCA 0.413 7 1380 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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 7 347 --- --- --- --- GRIK2 2898 broad.mit.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr6:102503431_102503432insA ENST00000369138.1 + 15 3028_3029 c.2538_2539insA c.(2536-2541)tcaaaafs p.SK846fs GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 846 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N849fs*12(1)|p.N849fs*14(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATACAAATCCAAAAAAAACGC 0.351 9 371 --- --- --- --- AC007255.7 0 broad.mit.edu 37 7 29720482 29720483 + RNA INS - - G rs70980562 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:29720482_29720483insG ENST00000426767.1 - 0 366 NR_024278.1 CTCTCAGATCAGTGATGCCCTG 0.485 12 148 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 32 --- --- --- --- STEAP2 261729 broad.mit.edu 37 7 89856465 89856465 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:89856465delT ENST00000287908.3 + 3 1066 c.673delT c.(673-675)ttfs p.F227fs STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 227 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CTTGGCCACATTTTTTTTCCT 0.393 7 636 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 11 764 --- --- --- --- SAMD9L 219285 broad.mit.edu 37 7 92760737 92760738 + Frame_Shift_Ins INS - - T rs10282508 byFrequency TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:92760737_92760738insT ENST00000318238.4 - 5 5763_5764 c.4547_4548insA c.(4546-4548)agafs p.R1516fs SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1516fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1516fs NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1516 N -> T (in dbSNP:rs10282508). central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTTTGACTTCATTTTTTTTCCA 0.391 8 677 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 14 260 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 444 --- --- --- --- PREX2 80243 broad.mit.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr8:68992720_68992721insT ENST00000288368.4 + 16 1962_1963 c.1685_1686insT c.(1684-1686)cttfs p.L562fs PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCGG 0.332 7 368 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron 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 10 374 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 8 1351 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr8:141554345delG ENST00000220592.5 - 14 1918 c.1806delC c.(1804-1806)ccfs p.P602fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATCCCCGGCGGGGGGGTGAG 0.647 7 1615 --- --- --- --- PLIN2 123 broad.mit.edu 37 9 19119813 19119813 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:19119813delT ENST00000276914.2 - 6 791 c.612delA c.(610-612)aafs p.K204fs PLIN2_ENST00000411567.1_Frame_Shift_Del_p.K161fs NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 204 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 ATCCTTCAACTTTTTTTGCTT 0.428 9 558 --- --- --- --- SURF6 6838 broad.mit.edu 37 9 136199557 136199557 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr9:136199557delT ENST00000372022.4 - 4 698 c.433delA c.(433-435)ggfs p.R148fs SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 148 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CTCCGCCGCCTTTTCTCCAAG 0.632 8 915 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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 10 322 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 7 533 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 10 328 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_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 7 454 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 8 684 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 11 227 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs 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 11 713 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39727052 39727052 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:39727052delT ENST00000395670.3 - 18 2868 c.2449delA c.(2449-2451)gafs p.R817fs KIF21A_ENST00000361418.5_Frame_Shift_Del_p.R817fs|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.R804fs|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.R804fs Q7Z4S6 KI21A_HUMAN kinesin family member 21A 817 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TCTTGGTTTCTTTTTTGGGCT 0.323 8 1246 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:101680157delT ENST00000261637.4 + 5 559 c.385delT c.(385-387)ttfs p.F130fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 130 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTTTCCAGAGTTTTTTTTGAC 0.398 16 1463 --- --- --- --- SDSL 113675 broad.mit.edu 37 12 113872001 113872001 + Frame_Shift_Del DEL C C - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:113872001delC ENST00000403593.4 + 5 679 c.417delC c.(415-417)gtfs p.V139fs SDSL_ENST00000345635.4_Frame_Shift_Del_p.V139fs Q96GA7 SDSL_HUMAN serine dehydratase-like 139 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) GGGAGAATGTCCCCCCGTTTG 0.612 7 1481 --- --- --- --- MPHOSPH9 10198 broad.mit.edu 37 12 123706321 123706322 + Frame_Shift_Ins INS - - A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:123706321_123706322insA ENST00000606320.1 - 5 675_676 c.469_470insT c.(469-471)tctfs p.S157fs MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs Q99550 MPP9_HUMAN M-phase phosphoprotein 9 5 M phase of mitotic cell cycle centriole|Golgi membrane p.S5C(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) ACTGCTTAGAGAAAAAAAACCC 0.371 11 537 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 320 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_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 10 304 --- --- --- --- CKAP2 0 broad.mit.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:53049034delA ENST00000378037.5 + 9 1900 c.1810delA c.(1810-1812)aafs p.K606fs CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 606 apoptosis|cell cycle centrosome|microtubule|spindle pole p.K605fs*14(2) breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) TTTCAGTGTGAAAAAAAAGGT 0.318 7 299 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 10 208 --- --- --- --- RP11-666E17.1 0 broad.mit.edu 37 14 82284325 82284326 + RNA INS - - T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr14:82284325_82284326insT ENST00000554814.1 + 0 220 tccttccttccttcttccttcc 0.520 3 3 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 10 604 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)afs p.R678fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 10 655 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 8 749 --- --- --- --- OGFOD1 55239 broad.mit.edu 37 16 56509438 56509439 + Frame_Shift_Ins INS - - G rs147207036 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr16:56509438_56509439insG ENST00000566157.1 + 12 1551_1552 c.1428_1429insG c.(1426-1431)gggtttfs p.F477fs OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 477 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) CAGAATATGGCGGTTTTACTTC 0.371 8 366 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 7 25 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 7 182 --- --- --- --- PROCA1 147011 broad.mit.edu 37 17 27030601 27030601 + Frame_Shift_Del DEL G G - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr17:27030601delG ENST00000301039.2 - 4 1179 c.986delC c.(985-987)cafs p.P329fs PROCA1_ENST00000439862.3_Frame_Shift_Del_p.P331fs NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 357 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GTTTGATCCTGGGGGAGATTT 0.547 7 1095 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 11 350 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs 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 13 370 --- --- --- --- HAUS1 115106 broad.mit.edu 37 18 43685174 43685174 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr18:43685174delA ENST00000282058.6 + 2 125 c.45delA c.(43-45)ttfs p.L15fs HAUS1_ENST00000585518.1_Frame_Shift_Del_p.L15fs NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 15 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CTGCGTGGTTAAAAAAAATAT 0.393 7 228 --- --- --- --- TNFRSF11A 8792 broad.mit.edu 37 18 60051988 60051990 + In_Frame_Del DEL TGT TGT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr18:60051988_60051990delTGT ENST00000586569.1 + 10 1610_1612 c.1572_1574delTGT c.(1570-1575)aag>aa p.NV524del TNFRSF11A_ENST00000269485.7_In_Frame_Del_p.NV207del NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 524 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) CCGCAGGAAATGTGACTGGAAAC 0.626 26 103 --- --- --- --- PNMAL1 55228 broad.mit.edu 37 19 46973195 46973197 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:46973195_46973197delCTT ENST00000313683.10 - 2 1401_1403 c.1096_1098delAAG c.(1096-1098)del p.K366del PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 366 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCAAGCTCACCTTCTTCTTCTTC 0.562 9 1264 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 7 311 --- --- --- --- ZNF577 84765 broad.mit.edu 37 19 52375911 52375911 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:52375911delA ENST00000420592.1 - 6 2488 c.1155delT c.(1153-1155)ttfs p.F385fs ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Frame_Shift_Del_p.F444fs|ZNF577_ENST00000451628.2_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000485702.1_Intron Q9BSK1 ZN577_HUMAN zinc finger protein 577 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GATTTCTTGGAAAAGGTTGTT 0.403 93 223 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 13 10 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 7 695 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16488699 16488699 + Frame_Shift_Del DEL A A - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:16488699delA ENST00000354981.2 - 7 760 c.603delT c.(601-603)ctfs p.L201fs KIF16B_ENST00000355755.3_Frame_Shift_Del_p.L201fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Del_p.L201fs NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 201 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CCGCATCCATAAGTTCTTCTA 0.433 148 1789 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 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 8 1045 --- --- --- --- CNBD2 140894 broad.mit.edu 37 20 34618504 34618504 + Frame_Shift_Del DEL C C - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:34618504delC ENST00000373973.3 + 12 1838 c.1665delC c.(1663-1665)ctfs p.L555fs CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Del_p.L551fs cyclic nucleotide binding domain containing 2 AGAAATACCTCCCCCCATTGA 0.458 8 3200 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 15 2148 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6adca2bb-c179-4d25-b4c4-52e295b1b984 fa9e0f37-f298-4f1f-af5e-2ddef3f2f935 g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 7 49 --- --- --- ---