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 DHX37 57647 broad.mit.edu 37 12 125465272 125465272 + Nonsense_Mutation SNP C C A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:125465272C>A ENST00000308736.2 - 4 600 c.502G>T c.(502-504)Gag>Tag p.E168* NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GATTCCGActcctcctcctcc 0.692000 7 31 3.09899e-07 3.31419e-07 1 1 0 SAMD15 161394 broad.mit.edu 37 14 77846757 77846757 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr14:77846757G>A ENST00000216471.4 + 2 2007 c.1721G>A c.(1720-1722)cGa>cAa p.R574Q SAMD15_ENST00000533095.2_5'UTR NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 574 SAM. breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATCAGTGGCCGAAAACTCATT 0.433000 36 164 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32407029 32407029 + Silent SNP A A T rs139769264 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 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 4 172 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110815272 110815272 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:110815272T>C ENST00000455511.3 - 9 1385 c.1385A>G c.(1384-1386)aAa>aGa p.K462R ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 462 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 TAATAATGTTTTGGCTTTCTC 0.423000 156 572 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 26 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 11 243 0 0 1 0 0 DTYMK 1841 broad.mit.edu 37 2 242625239 242625239 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr2:242625239C>T ENST00000305784.2 - 2 391 c.184G>A c.(184-186)Gac>Aac p.D62N DTYMK_ENST00000493095.1_5'UTR NM_001165031.1|NM_012145.3 NP_001158503.1|NP_036277.2 P23919 KTHY_HUMAN deoxythymidylate kinase (thymidylate kinase) 62 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity NS(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TCCTCCACGTCACTTTTCTTT 0.438000 251 999 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221848 55221848 + RNA SNP A A G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:55221848A>G ENST00000413439.1 + 0 1415 TCAGCTCAGAACGAGGTGGGG 0.637000 4 121 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3658718 3658718 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:3658718C>T ENST00000294008.3 - 2 888 c.248G>A c.(247-249)gGc>gAc p.G83D NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 83 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TATCTGAGTGCCGTTTGAGGC 0.458000 Direct reversal of damage 8 594 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3411193 3411193 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:3411193C>T ENST00000356575.4 - 31 4210 c.3984G>A c.(3982-3984)ggG>ggA p.G1328G MEGF6_ENST00000294599.4_Silent_p.G1093G NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1328 EGF-like 24. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CGCAGTGCCGCCCCGTCCAGC 0.711000 3 12 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 8 904 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13846127 13846127 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr20:13846127C>T ENST00000284951.5 - 16 1512 c.1438G>A c.(1438-1440)Gct>Act p.A480T SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 480 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AATTTCTCAGCCCAGTGGCCT 0.433000 18 363 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237502 56237502 + Missense_Mutation SNP T T C rs148100298 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:56237502T>C ENST00000312240.2 - 1 512 c.472A>G c.(472-474)Aca>Gca p.T158A NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T158A(1)|p.T158P(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GTCCATAATGTTGCTGCCAGA 0.428000 133 534 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590130 156590130 + Silent SNP G G T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr5:156590130G>T ENST00000302938.4 - 2 1241 c.1146C>A c.(1144-1146)acC>acA p.T382T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 382 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACACTTGCTGGTCGTAATAC 0.567000 9 224 7.48243e-07 7.94686e-07 1 1 0 SAE1 10055 broad.mit.edu 37 19 47646755 47646755 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:47646755C>T ENST00000413379.3 + 2 205 c.103C>T c.(103-105)Cgg>Tgg p.R35W SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000270225.7_Missense_Mutation_p.R35W NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 35 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity p.R35W(2) endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TTACAGGCTGCGGGCCTCTCG 0.458000 6 276 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 5 241 0 0 1 0 0 ZNF821 55565 broad.mit.edu 37 16 71894200 71894200 + Silent SNP C C A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:71894200C>A ENST00000425432.1 - 8 1339 c.960G>T c.(958-960)ctG>ctT p.L320L RP11-498D10.4_ENST00000569119.1_Intron|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Silent_p.L278L|ZNF821_ENST00000446827.2_Silent_p.L278L|ZNF821_ENST00000565601.1_Silent_p.L320L|ZNF821_ENST00000564134.1_3'UTR NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 GATCCCGCTGCAGCCGGCGTG 0.672000 5 183 1.23904e-05 1.28927e-05 1 1 0 BAALC 79870 broad.mit.edu 37 8 104225200 104225200 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr8:104225200G>A ENST00000309982.5 + 2 402 c.214G>A c.(214-216)Ggt>Agt p.G72S BAALC_ENST00000297574.6_Missense_Mutation_p.G107S|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron NM_024812.2 NP_079088.1 Q8WXS3 BAALC_HUMAN brain and acute leukemia, cytoplasmic 107 centrosome|membrane|nucleus kidney(1)|large_intestine(3)|lung(3) 7 OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133) TACAGCCCCAGGTGGAATACC 0.577000 86 378 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54759236 54759236 + Missense_Mutation SNP G G A rs685082 byFrequency TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:54759236G>A ENST00000450632.1 - 5 915 c.838C>T c.(838-840)Cac>Tac p.H280Y LILRB5_ENST00000345866.6_Missense_Mutation_p.H189Y|LILRB5_ENST00000316219.5_Missense_Mutation_p.H289Y|LILRB5_ENST00000449561.2_Missense_Mutation_p.H289Y O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 289 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGCCCCCGTGGGAGCGGCTC 0.672000 4 262 0 0 1 0 0 CGB2 114336 broad.mit.edu 37 19 49535356 49535356 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:49535356T>C ENST00000359342.6 + 1 122 c.4T>C c.(4-6)Tca>Cca p.S2P CTB-60B18.6_ENST00000591656.1_Intron NM_033378.1 NP_203696.2 chorionic gonadotropin, beta polypeptide 2 p.S2P(1) large_intestine(1)|lung(1)|stomach(1) 3 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GAGAGACATGTCAAAGGTAGG 0.547000 6 438 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126173814 126173814 + Missense_Mutation SNP C C G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:126173814C>G ENST00000339582.2 - 9 2430 c.1622G>C c.(1621-1623)tGt>tCt p.C541S GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.C541S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 541 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTAACCTTCACAGCGTTCACA 0.562000 HNSCC(24;0.065) 74 324 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 6 71 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 4 204 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10586309 10586309 + Silent SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:10586309G>A ENST00000265012.4 + 1 331 c.87G>A c.(85-87)ccG>ccA p.P29P GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 30 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AATTGAGCCCGCCAAAAAGTT 0.403000 10 706 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 439920 439920 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:439920C>T ENST00000256509.2 + 25 3747 c.3105C>T c.(3103-3105)atC>atT p.I1035I CHL1_ENST00000397491.2_Silent_p.I1019I NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1019 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.I1035I(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GTAAAGGTATCGGGAAGATAT 0.353000 32 162 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 5 40 0 0 1 0 0 AVPR1A 0 broad.mit.edu 37 12 63543857 63543857 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:63543857G>A ENST00000299178.2 - 1 865 c.760C>T c.(760-762)Cgc>Tgc p.R254C NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 254 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.R254C(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TTGCTCTGGCGCGACGCCGTC 0.617000 140 555 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124326011 124326011 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:124326011C>T ENST00000409039.3 + 29 4950 c.4925C>T c.(4924-4926)aCg>aTg p.T1642M NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1642 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACTGGATGACGGCAGTTTTG 0.463000 73 344 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13696478 13696478 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr10:13696478C>T ENST00000357447.2 - 23 3356 c.2988G>A c.(2986-2988)ccG>ccA p.P996P FRMD4A_ENST00000378503.1_Silent_p.P996P|FRMD4A_ENST00000358621.4_Silent_p.P981P NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 996 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TTTCACTTGACGGTGTCGAGC 0.547000 7 224 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205273036 205273036 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:205273036C>T ENST00000367157.3 - 7 1555 c.1429G>A c.(1429-1431)Gtg>Atg p.V477M NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 477 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CTCACAAACACGTCGCCTGCG 0.587000 21 180 0 0 1 0 0 ZNF688 146542 broad.mit.edu 37 16 30581656 30581656 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:30581656G>A ENST00000223459.6 - 3 1516 c.412C>T c.(412-414)Cgc>Tgc p.R138C ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 TCAGGGTTGCGTTCCACCAGC 0.607000 67 262 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 6 207 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125315452 125315452 + Nonsense_Mutation SNP G G T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr9:125315452G>T ENST00000373688.2 + 1 62 c.4G>T c.(4-6)Gaa>Taa p.E2* NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTGACACATGGAAGGTTTTTA 0.408000 80 325 7.539e-32 8.35256e-32 1 1 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 5 62 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 5 255 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11780474 11780474 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr2:11780474G>A ENST00000381486.2 + 33 6044 c.5744G>A c.(5743-5745)cGc>cAc p.R1915H GREB1_ENST00000396123.1_Missense_Mutation_p.R913H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1915 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACGGTCGTCCGCCTGGAGCTC 0.622000 50 231 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30976083 30976083 + Missense_Mutation SNP G G T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr22:30976083G>T ENST00000402281.1 - 13 1700 c.709C>A c.(709-711)Cag>Aag p.Q237K PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000405677.1_Missense_Mutation_p.Q237K|PES1_ENST00000354694.6_Missense_Mutation_p.Q376K O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 376 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 TCGACAATCTGATGGGTGATG 0.577000 110 456 1.33972e-64 1.50596e-64 1 1 0 GPRC6A 0 broad.mit.edu 37 6 117113727 117113727 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:117113727C>T ENST00000310357.3 - 6 2380 c.2359G>A c.(2359-2361)Ggc>Agc p.G787S GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 787 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATGAGCATGCCAAATGTAATG 0.378000 38 176 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 10 518 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676154 37676154 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:37676154C>T ENST00000532828.2 - 5 2536 c.2285G>A c.(2284-2286)aGt>aAt p.S762N ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 762 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGATGAACACTGAACACTGA 0.463000 118 496 0 0 1 0 0 PTPN12 0 broad.mit.edu 37 7 77230064 77230064 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:77230064G>A ENST00000248594.6 + 8 908 c.636G>A c.(634-636)atG>atA p.M212I PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I|PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 212 Tyrosine-protein phosphatase. soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TTCTGGACATGATAAGCTTAA 0.328000 100 351 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 7337 7337 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chrM:7337G>A ENST00000361624.2 + 1 1434 c.1434G>A c.(1432-1434)tcG>tcA p.478_478insS mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 GCCTTCGCTTCGAAGCGAAAA 0.408000 3 7 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664679 22664679 + RNA SNP A A G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr22:22664679A>G ENST00000426066.1 + 0 860 NR_027293.1 TGGGTGAGAAAGACACCTGGT 0.483000 4 182 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962193 1962193 + Nonsense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:1962193G>A ENST00000454677.2 - 2 543 c.478C>T c.(478-480)Cga>Tga p.R160* HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*|HS3ST6_ENST00000293937.3_Nonsense_Mutation_p.R143* C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 112 endometrium(2)|lung(2) 4 TCCAGGGTTCGGGGCATCAGA 0.692000 16 57 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140175222 140175222 + Missense_Mutation SNP A A G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr5:140175222A>G ENST00000526136.1 + 1 673 c.673A>G c.(673-675)Acc>Gcc p.T225A PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCACGGGCACCGTTCAAAT 0.423000 90 455 0 0 1 0 0 PHYKPL 85007 broad.mit.edu 37 5 177642327 177642327 + Missense_Mutation SNP C C A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr5:177642327C>A ENST00000308158.5 - 9 1266 c.1032G>T c.(1030-1032)atG>atT p.M344I PHYKPL_ENST00000481811.1_5'UTR NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase CGAGGAGCTGCATCAGGAAGC 0.617000 4 118 1 1 1 1 0 ATM 472 broad.mit.edu 37 11 108117798 108117798 + Missense_Mutation SNP C C T rs138398778 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:108117798C>T ENST00000278616.4 + 8 1394 c.1009C>T c.(1009-1011)Cgt>Tgt p.R337C ATM_ENST00000452508.2_Missense_Mutation_p.R337C NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 337 R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R337C(3)|p.R337S(2)|p.F336_A340del(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTCAGGATTTCGTAATATTGC 0.323000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 58 278 0 0 1 0 0 LHX5 64211 broad.mit.edu 37 12 113906184 113906184 + Missense_Mutation SNP C C G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:113906184C>G ENST00000261731.3 - 3 996 c.423G>C c.(421-423)ttG>ttC p.L141F NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 GGTCCGGGGACAAACTGCGGT 0.642000 22 78 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213178773 213178773 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:213178773G>A ENST00000366962.3 - 5 890 c.736C>T c.(736-738)Cgg>Tgg p.R246W ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 246 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CTTCCTGTCCGCATCTTATAT 0.368000 6 537 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601941 13601941 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr4:13601941G>A ENST00000040738.5 - 10 6718 c.6583C>T c.(6583-6585)Ccc>Tcc p.P2195S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2195 DNA binding GGCGCACTGGGCATAGGCCCC 0.527000 4 228 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109777647 109777647 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr13:109777647C>T ENST00000356711.2 + 30 3783 c.3657C>T c.(3655-3657)aaC>aaT p.N1219N MYO16_ENST00000457511.2_Silent_p.N731N|MYO16_ENST00000357550.2_Silent_p.N1219N NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1219 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GTGAAATGAACGCTCCCTACC 0.458000 32 178 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902132 1902132 + Silent SNP A A T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr20:1902132A>T ENST00000358771.4 + 3 680 c.528A>T c.(526-528)tcA>tcT p.S176S SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 176 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.S176S(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) ACGGCTTCTCACCCAGAGACA 0.582000 4 231 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 6 235 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 6 250 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68719231 68719231 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:68719231G>A ENST00000303145.7 - 4 709 c.623C>T c.(622-624)gCa>gTa p.A208V MDM1_ENST00000411698.2_Intron|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 208 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CTGATTGGCTGCAAAAGCTGG 0.338000 9 1197 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961195 1961195 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr20:1961195C>T ENST00000217305.2 - 4 764 c.539G>A c.(538-540)cGc>cAc p.R180H RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 180 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGGTATTTGCGCAAAAAGCC 0.602000 89 407 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587616 247587616 + Missense_Mutation SNP G G A rs145092553 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:247587616G>A ENST00000366497.2 + 4 1651 c.871G>A c.(871-873)Gtg>Atg p.V291M NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000336119.3_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 291 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCACAAGATCGTGAGAAAACC 0.562000 166 291 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591889 48591889 + Missense_Mutation SNP A A C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr18:48591889A>C ENST00000342988.3 + 9 1590 c.1052A>C c.(1051-1053)gAt>gCt p.D351A SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 351 MH2. D -> N (in a colorectal cancer sample; somatic mutation). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GTTACTGTTGATGGATACGTG 0.438000 80 273 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193111023 193111023 + Missense_Mutation SNP A A G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:193111023A>G ENST00000367435.3 + 7 740 c.556A>G c.(556-558)Aaa>Gaa p.K186E NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 186 AIKA -> CNQT (in Ref. 2; BAB15608). cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 TGCTGCAATCAAAGCCAAAAT 0.363000 35 205 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 64173012 64173012 + Missense_Mutation SNP G G A rs150126064 byFrequency TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:64173012G>A ENST00000392769.2 - 3 451 c.233C>T c.(232-234)gCg>gTg p.A78V CEP112_ENST00000537949.1_Missense_Mutation_p.A78V|CEP112_ENST00000535342.2_Missense_Mutation_p.A78V NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 78 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 GCCTTCAAGCGCACCTCGTTT 0.423000 7 506 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77705082 77705082 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:77705082G>A ENST00000328313.5 + 1 402 c.181G>A c.(181-183)Ggg>Agg p.G61R NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 61 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCCCGAGACGGGGTGAAGGC 0.647000 4 100 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063580 76063580 + Missense_Mutation SNP A A G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:76063580A>G ENST00000260045.3 - 5 719 c.614T>C c.(613-615)cTg>cCg p.L205P NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 205 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CCGACACTCCAGCAGTGCCTG 0.438000 68 261 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158605758 158605758 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:158605758G>A ENST00000368148.3 - 38 5557 c.5377C>T c.(5377-5379)Cgg>Tgg p.R1793W SPTA1_ENST00000368147.3_Missense_Mutation_p.R1793W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1793 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGAGCCAGCCGCAACTGGATC 0.522000 6 639 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97843044 97843044 + Missense_Mutation SNP G G T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr9:97843044G>T ENST00000375315.2 + 14 2301 c.2301G>T c.(2299-2301)agG>agT p.R767S C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S|C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 767 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GTGTGGAGAGGTTCCTTCAGG 0.502000 42 243 2.47872e-24 2.70726e-24 1 1 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 6 505 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494938 55494938 + Silent SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:55494938G>A ENST00000543010.1 + 6 2015 c.1872G>A c.(1870-1872)caG>caA p.Q624Q NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 624 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGATGGCTCAGTTCAAAGAAA 0.502000 39 139 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37118421 37118421 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:37118421C>T ENST00000435416.1 + 3 3114 c.1619C>T c.(1618-1620)aCt>aTt p.T540I ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T541I Q96SR6 ZN382_HUMAN zinc finger protein 382 541 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CATCAGAAAACTCACAAGGTA 0.383000 44 284 0 0 1 0 0 NUDT19 390916 broad.mit.edu 37 19 33183406 33183406 + Silent SNP G G C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:33183406G>C ENST00000397061.3 + 1 540 c.540G>C c.(538-540)cgG>cgC p.R180R NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 180 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) ACTTCCTGCGGCTGTGCGCCC 0.731000 13 37 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38103746 38103746 + Missense_Mutation SNP G G T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:38103746G>T ENST00000308059.6 + 4 781 c.760G>T c.(760-762)Gat>Tat p.D254Y DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 254 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAAGCTTGAAGATTCATGCAG 0.463000 17 219 5.3912e-06 5.64793e-06 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 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 7 156 0 0 1 0 0 FUOM 282969 broad.mit.edu 37 10 135170216 135170216 + Silent SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr10:135170216G>A ENST00000278025.4 - 4 269 c.252C>T c.(250-252)agC>agT p.S84S FUOM_ENST00000368551.1_Silent_p.S39S|FUOM_ENST00000368552.3_Silent_p.S84S|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000447176.1_Silent_p.S40S NM_198472.2 NP_940874.2 fucose mutarotase TCTCCTTGTCGCTGGGCACCA 0.657000 15 28 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569205 99569205 + Nonsense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:99569205G>A ENST00000331335.5 - 5 1785 c.1315C>T c.(1315-1317)Caa>Taa p.Q439* FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q439*|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 439 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TAGCATTCTTGTTTGCTTTTG 0.358000 107 503 0 0 1 0 0 MLEC 9761 broad.mit.edu 37 12 121134267 121134267 + Missense_Mutation SNP G G A rs144716658 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:121134267G>A ENST00000412616.2 + 3 615 c.563G>A c.(562-564)cGg>cAg p.R188Q MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000228506.3_Silent_p.S266S Q14165 MLEC_HUMAN malectin 266 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 CCTATGCCTCGGACAACAGCA 0.502000 10 763 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130361862 130361862 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:130361862G>A ENST00000358511.6 + 30 5253 c.5222G>A c.(5221-5223)cGc>cAc p.R1741H COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1741 Nonhelical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTGCGAGACCGCAGTCGTAAG 0.393000 19 122 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292765 102292765 + RNA SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr15:102292765C>T ENST00000561463.1 + 0 811 GGCACAGCGGCGCGACGAGAT 0.602000 6 87 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158922970 158922970 + Missense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:158922970G>A ENST00000367097.3 + 13 3632 c.2275G>A c.(2275-2277)Gga>Aga p.G759R TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 759 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GGTGATTTTCGGAAGCGTGGA 0.612000 41 686 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229763503 229763503 + Silent SNP A A G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:229763503A>G ENST00000258243.2 + 2 259 c.123A>G c.(121-123)gaA>gaG p.E41E NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 41 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 CAAATAAAGAACAAGTAAGTT 0.294000 8 506 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40714982 40714982 + Translation_Start_Site SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:40714982G>A ENST00000449624.1 + 0 178 COASY_ENST00000393818.2_Silent_p.V114V|COASY_ENST00000421097.2_Silent_p.V114V|COASY_ENST00000590958.1_Silent_p.V143V|COASY_ENST00000420359.1_Silent_p.V114V Q13057 COASY_HUMAN CoA synthase coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CAGAAGTCGTGTTGACAGATT 0.562000 91 916 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21049118 21049118 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:21049118C>T ENST00000261383.3 - 34 4914 c.4915G>A c.(4915-4917)Gcc>Acc p.A1639T DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1639 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) AAGAACTTGGCCAGATTGACA 0.498000 4 169 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45368211 45368211 + Nonsense_Mutation SNP G G C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr18:45368211G>C ENST00000402690.2 - 11 1785 c.1391C>G c.(1390-1392)tCa>tGa p.S464* SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434* NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 464 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding p.S464*(4)|p.R462fs*>4(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 TGACATGCTTGAGCAACGCAC 0.423000 45 181 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40756141 40756141 + Missense_Mutation SNP C C G TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr15:40756141C>G ENST00000561234.1 + 4 2153 c.1894C>G c.(1894-1896)Ctt>Gtt p.L632V BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|BAHD1_ENST00000416165.1_Missense_Mutation_p.L633V Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 633 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GGACACCGTCCTTCTCAAATC 0.592000 42 127 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 51 305 7.41606e-26 8.15766e-26 1 1 0 CFHR2 3080 broad.mit.edu 37 1 196918732 196918732 + Missense_Mutation SNP G G A rs144596551 byFrequency TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:196918732G>A ENST00000367415.4 + 2 320 c.206G>A c.(205-207)cGc>cAc p.R69H CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 69 Sushi 1. extracellular region p.R69H(1) large_intestine(2)|ovary(1)|skin(3) 6 TTTTGGACTCGCATAACGTGC 0.393000 6 545 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 7 255 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114082716 114082716 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chrX:114082716C>T ENST00000276198.1 + 5 1228 c.500C>T c.(499-501)tCg>tTg p.S167L HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 167 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.S167L(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CGTTTCAATTCGCGGACTAAG 0.408000 78 193 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42225373 42225373 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:42225373C>T ENST00000319977.4 + 3 439 c.202C>T c.(202-204)Ccc>Tcc p.P68S C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 68 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CCCCACTGCTCCCTCAGAGGC 0.622000 85 333 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100951770 100951770 + Missense_Mutation SNP A A T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:100951770A>T ENST00000193391.7 - 15 3275 c.3088T>A c.(3088-3090)Tgg>Agg p.W1030R NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1030 EGF-like 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCTCCACTCCAGGGGTTGACC 0.463000 65 234 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22575373 22575373 + Missense_Mutation SNP C C T rs140852501 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:22575373C>T ENST00000357774.5 - 4 785 c.664G>A c.(664-666)Gcc>Acc p.A222T NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGGTTTGAGGCCTCATTATAG 0.383000 4 106 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77906745 77906745 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr15:77906745C>T ENST00000355300.6 - 2 1678 c.1504G>A c.(1504-1506)Gcg>Acg p.A502T LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 502 Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 TTGCCGCCCGCGTTGGCCGCG 0.637000 12 121 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 97 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221850 55221850 + RNA SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:55221850G>A ENST00000413439.1 + 0 1415 AGCTCAGAACGAGGTGGGGCA 0.637000 5 126 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871085 170871085 + Silent SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:170871085G>A ENST00000392092.2 + 3 540 c.261G>A c.(259-261)caG>caA p.Q87Q TBP_ENST00000230354.6_Silent_p.Q87Q|TBP_ENST00000540980.1_Silent_p.Q67Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 87 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.617000 4 101 0 0 1 0 0 TRAF2 7186 broad.mit.edu 37 9 139795034 139795034 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr9:139795034C>T ENST00000359662.3 + 4 473 c.428C>T c.(427-429)tCc>tTc p.S143F TRAF2_ENST00000536468.1_Intron|TRAF2_ENST00000247668.2_Intron Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 125 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CGTCCACGCTCCCCAAGCAGT 0.557000 13 50 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56440904 56440904 + Nonsense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:56440904G>A ENST00000584437.1 - 3 2388 c.433C>T c.(433-435)Cga>Tga p.R145* RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*|BZRAP1-AS1_ENST00000583841.1_RNA Q68DV7 RNF43_HUMAN ring finger protein 43 145 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.R145*(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCAGCAGCTCGATCCTCAGTG 0.597000 138 545 0 0 1 0 0 SLC16A13 201232 broad.mit.edu 37 17 6941599 6941599 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:6941599T>C ENST00000308027.6 + 3 780 c.472T>C c.(472-474)Ttt>Ctt p.F158L NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 158 integral to membrane|plasma membrane symporter activity p.F158L(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATTTGCCCCCTTTTTCCAGTG 0.652000 4 278 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414313 20414313 + Silent SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr9:20414313G>A ENST00000380338.4 - 5 817 c.531C>T c.(529-531)agC>agT p.S177S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 177 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 6 362 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307696 46307696 + Silent SNP C C T rs146411467 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:46307696C>T ENST00000221538.3 - 3 1609 c.1467G>A c.(1465-1467)tcG>tcA p.S489S RSPH6A_ENST00000600188.1_Silent_p.S225S|RSPH6A_ENST00000597055.1_Silent_p.S489S NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 489 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GCGTGGCGGCCGAGATGCGGG 0.642000 12 236 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141014657 141014657 + Missense_Mutation SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr9:141014657C>T ENST00000277549.5 + 45 6222 c.3653C>T c.(3652-3654)aCg>aTg p.T1218M CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T2024M Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2024 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCCATCTCCACGCTGGCCCAG 0.687000 24 48 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821496 203821496 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:203821496T>C ENST00000545588.1 + 17 6229 c.2402T>C c.(2401-2403)cTg>cCg p.L801P ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 801 nucleic acid binding|protein binding|zinc ion binding p.L801P(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GATGACCTTCTGCTTGAGCTA 0.388000 5 244 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821424 203821424 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:203821424T>C ENST00000545588.1 + 17 6157 c.2330T>C c.(2329-2331)aTa>aCa p.I777T ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 777 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GAGAAACTAATATGGGAGATT 0.473000 4 329 0 0 1 0 0 DEFB135 613209 broad.mit.edu 37 8 11841997 11841997 + Silent SNP C C T TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr8:11841997C>T ENST00000382208.2 + 2 132 c.132C>T c.(130-132)tgC>tgT p.C44C NM_001033017.2 NP_001028189.2 Q30KP9 DB135_HUMAN defensin, beta 135 44 defense response to bacterium extracellular region endometrium(1)|large_intestine(2)|prostate(1) 4 AAGGTACTTGCCGGCCAAAAT 0.373000 5 321 0 0 1 0 0 CPNE2 221184 broad.mit.edu 37 16 57153169 57153169 + Nonsense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:57153169G>A ENST00000535318.2 + 7 931 c.570G>A c.(568-570)tgG>tgA p.W190* CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190* Q96FN4 CPNE2_HUMAN copine II 190 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) ATGGCAAGTGGATGCTGGTCC 0.582000 76 387 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43491668 43491668 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:43491668T>C ENST00000265351.7 - 32 3763 c.3553A>G c.(3553-3555)Atg>Gtg p.M1185V POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 1185 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GTCTCCAGCATTGGCTTTGTT 0.463000 4 263 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30693720 30693720 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr21:30693720T>C ENST00000399921.1 + 2 362 c.119T>C c.(118-120)gTg>gCg p.V40A BACH1_ENST00000286800.3_Missense_Mutation_p.V40A NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 40 BTB. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 ACCATCTTTGTGGAGGGACAG 0.517000 104 357 0 0 1 0 0 CHMP1A 5119 broad.mit.edu 37 16 89718035 89718035 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:89718035T>C ENST00000397901.3 - 3 303 c.47A>G c.(46-48)gAg>gGg p.E16G CHMP1A_ENST00000253475.5_Silent_p.G9G|CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR NM_002768.3 NP_002759.2 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 16 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) GGCCAGCTTCTCCAGCTGCTT 0.632000 4 155 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18738405 18738405 + Missense_Mutation SNP C C A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:18738405C>A ENST00000513874.1 - 10 1255 c.1116G>T c.(1114-1116)aaG>aaT p.K372N RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 372 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TGATTTCATACTTGTCATCCC 0.527000 147 576 2.14601e-56 2.39482e-56 1 1 0 RP1-125I3.2 0 broad.mit.edu 37 1 26186960 26186960 + RNA DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:26186960delT ENST00000455431.1 + 0 263 AATTTTGTAATTTTTTTTTTT 0.552 4 5 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 211 --- --- --- --- S100A8 6279 broad.mit.edu 37 1 153362605 153362605 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:153362605delT ENST00000368733.3 - 3 425 c.256delA c.(256-258)gcfs p.S86fs S100A8_ENST00000368732.1_Frame_Shift_Del_p.S86fs NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 86 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCTTCATGGCTTTTTTTGTGG 0.478 7 891 --- --- --- --- KIRREL 55243 broad.mit.edu 37 1 158058203 158058203 + Frame_Shift_Del DEL C C - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:158058203delC ENST00000368172.1 + 4 409 c.397delC c.(397-399)ccfs p.P134fs KIRREL_ENST00000368173.3_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000416935.2_Frame_Shift_Del_p.P236fs|KIRREL_ENST00000359209.6_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.P233fs|KIRREL_ENST00000360089.4_Frame_Shift_Del_p.P172fs Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 336 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGTTGGGAATCCCCCCCTCAC 0.453 11 628 --- --- --- --- ATP1A4 480 broad.mit.edu 37 1 160134106 160134106 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:160134106delT ENST00000368081.4 + 7 1410 c.939delT c.(937-939)acfs p.T313fs NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 313 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGGTGTCACTTTTTTTGCGC 0.537 8 1035 --- --- --- --- CDC73 79577 broad.mit.edu 37 1 193172923 193172949 + Splice_Site DEL AGGAGGGTGCATCTGCCCGGAAGACTC AGGAGGGTGCATCTGCCCGGAAGACTC - rs149875598 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr1:193172923_193172949delAGGAGGGTGCATCTGCCCGGAAGACTC ENST00000367435.3 + 11 1156_1181 c.972_splice c.e11-1 p.T325_splice NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 325 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding p.R330L(1)|p.R330R(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 ATTCTTTTAAAGGAGGGTGCATCTGCCCGGAAGACTCAGACTCCTGC 0.352 9 214 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 7 707 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 26 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233712228 233712230 + In_Frame_Del DEL CAG CAG - rs72096937 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr2:233712228_233712230delCAG ENST00000373566.3 + 28 3894_3896 c.3697_3699delCAG c.(3697-3699)del p.Q1238del GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1216 Gln-rich. cell death protein binding p.Q1216delQ(2)|p.Q1237delQ(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) gcagctgccacagcagcagcagc 0.547 8 396 --- --- --- --- ATG7 10533 broad.mit.edu 37 3 11372876 11372876 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:11372876delT ENST00000354449.3 + 8 766 c.741delT c.(739-741)aafs p.N247fs ATG7_ENST00000446450.2_Frame_Shift_Del_p.N208fs|ATG7_ENST00000354956.5_Frame_Shift_Del_p.N247fs NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 247 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CTTTGAGGAATTTTTTGGTCC 0.403 7 735 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T rs76346895 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:75790810_75790811insT ENST00000422325.1 - 3 456_457 c.134_135insA c.(133-135)actfs p.T45fs ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 45 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCTGTACAGGGTCCTCTGAGC 0.510 8 23 --- --- --- --- OR5H1 26341 broad.mit.edu 37 3 97851842 97851842 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr3:97851842delT ENST00000354565.2 + 1 301 c.301delT c.(301-303)ttfs p.F102fs RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CAAGATACAGTTTTTTTCGTT 0.393 8 1454 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 8 680 --- --- --- --- CCDC158 339965 broad.mit.edu 37 4 77305357 77305357 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr4:77305357delT ENST00000388914.3 - 5 762 c.610delA c.(610-612)tafs p.I204fs CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 204 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TGTTCACATATTTTTTTGCCT 0.393 8 401 --- --- --- --- CDC20B 166979 broad.mit.edu 37 5 54423083 54423083 + Splice_Site DEL A A - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr5:54423083delA ENST00000334206.5 - 8 1166 c.e8+1 CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000322374.6_Splice_Site|CDC20B_ENST00000381375.2_Splice_Site Q86Y33 CD20B_HUMAN cell division cycle 20B kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GACGCTTCTTACCTGCTGAGG 0.383 141 578 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 11 1399 --- --- --- --- HLA-F-AS1 0 broad.mit.edu 37 6 29709414 29709414 + RNA DEL A A - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:29709414delA ENST00000458236.1 - 0 349 tagtttccccatttcatagat 0.458 5 10 --- --- --- --- RP11-235G24.1 0 broad.mit.edu 37 6 161319341 161319342 + RNA DEL AG AG - rs112639891 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr6:161319341_161319342delAG ENST00000454826.1 - 0 207 ACAGAAAGAAAGAGAAAATTAT 0.406 3 5 --- --- --- --- CPVL 54504 broad.mit.edu 37 7 29070261 29070262 + Frame_Shift_Ins INS - - T rs5883182 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:29070261_29070262insT ENST00000409850.1 - 16 1897_1898 c.1251_1252insA c.(1249-1254)aatttgfs p.NL417fs CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 417 proteolysis protein binding|serine-type carboxypeptidase activity p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 ATCTTCCAAACTTTTTTTTCTG 0.510 7 1097 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 10 660 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 9 211 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 7 571 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10480104 10480104 + Splice_Site DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr8:10480104delT ENST00000382483.3 - 2 831 c.609_splice c.e2+1 p.K203_splice RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 203 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACAGCCTACCTTTTTCCCGCT 0.483 7 1179 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 396 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 9 279 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 7 639 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57076529 57076529 + Frame_Shift_Del DEL C C - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:57076529delC ENST00000532437.1 - 5 3967 c.3656delG c.(3655-3657)gafs p.G1219fs TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1219 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.G1219E(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AACTCCGATTCCCCCCGGCTC 0.582 7 1080 --- --- --- --- MUS81 80198 broad.mit.edu 37 11 65632538 65632539 + Frame_Shift_Del DEL AG AG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:65632538_65632539delAG ENST00000308110.4 + 13 1672_1673 c.1323_1324delAG c.(1321-1326)tcggfs p.SG441fs MUS81_ENST00000533035.1_Frame_Shift_Del_p.SG366fs NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 441 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) ACCCTGAATCAGGGGCCATGAC 0.589 Homologous recombination 10 982 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427683 118427685 + In_Frame_Del DEL ATC ATC - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr11:118427683_118427685delATC ENST00000264020.2 - 5 651_653 c.274_276delGAT c.(274-276)del p.D92del IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 41 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TTTCAGATGAatcatcatcatca 0.478 8 661 --- --- --- --- LINC00477 0 broad.mit.edu 37 12 24736734 24736735 + RNA INS - - A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:24736734_24736735insA ENST00000483544.1 - 0 367_368 NR_029451.2 AGGCGAAGAAGAAAAAAAAATC 0.569 12 258 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 9 961 --- --- --- --- ESRRAP2 0 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 4 6 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46542016 46542017 + Frame_Shift_Del DEL CT CT - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr13:46542016_46542017delCT ENST00000242848.4 - 15 4291_4292 c.3943_3944delAG c.(3943-3945)gfs p.R1316fs ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1316 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) cgtatctctcctctctctctcg 0.495 7 520 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514338 75514338 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr14:75514338delT ENST00000355774.2 - 2 2236 c.2021delA c.(2020-2022)atfs p.N674fs MLH3_ENST00000556257.1_Frame_Shift_Del_p.N674fs|MLH3_ENST00000556740.1_Frame_Shift_Del_p.N674fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Del_p.N674fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 674 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CGTTCTGCAATTTTTTTTGTT 0.348 Mismatch excision repair (MMR) 11 713 --- --- --- --- RP11-69H14.6 0 broad.mit.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr15:22332412_22332413insA ENST00000558896.1 + 0 219_220 TTGGCTTGATGAAAAAAAACAA 0.322 8 674 --- --- --- --- NTAN1 123803 broad.mit.edu 37 16 15131931 15131931 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:15131931delT ENST00000287706.3 - 10 982 c.890delA c.(889-891)atfs p.N297fs PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 297 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 GCCATCTTCATTTTTTTTGTA 0.383 7 659 --- --- --- --- NPIPB5 100132247 broad.mit.edu 37 16 22546050 22546051 + In_Frame_Ins INS - - ATA TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:22546050_22546051insATA ENST00000424340.1 + 7 2025_2026 c.1746_1747insATA c.(1744-1749)attctc>atATAtctc p.582_583IL>IYL NPIPB5_ENST00000517539.1_In_Frame_Ins_p.582_583IL>IYL|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 CTCAGCGGATGATCTCAAGACA 0.550 8 106 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 7 1233 --- --- --- --- ORAI3 93129 broad.mit.edu 37 16 30964972 30964974 + In_Frame_Del DEL GTG GTG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr16:30964972_30964974delGTG ENST00000318663.4 + 2 919_921 c.695_697delGTG c.(694-699)tgt>t p.CG232del ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 232 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 CGGCAAGCCTGTGGTGGTGGTGG 0.645 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 637 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29062327 29062327 + RNA DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:29062327delT ENST00000582557.1 + 0 946 TGTTATTAGCTTTTTTTTTTT 0.408 4 7 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128638 45128638 + RNA DEL G G - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:45128638delG ENST00000575173.1 - 0 418 Gtttttttttgttttgttttt 0.323 10 553 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 96 --- --- --- --- TNFRSF11A 8792 broad.mit.edu 37 18 60025540 60025540 + Frame_Shift_Del DEL T T - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr18:60025540delT ENST00000586569.1 + 5 525 c.487delT c.(487-489)ttfs p.F163fs TNFRSF11A_ENST00000269485.7_Frame_Shift_Del_p.F163fs NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 163 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) CTCTGATGCCTTTTCCTCCAC 0.443 7 911 --- --- --- --- ANKLE1 126549 broad.mit.edu 37 19 17397456 17397457 + Frame_Shift_Ins INS - - GT rs35771129 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:17397456_17397457insGT ENST00000598347.1 + 8 1728_1729 c.1726_1727insGT c.(1726-1728)tgtfs p.C576fs ANKLE1_ENST00000394458.3_3'UTR|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR NM_001278444.1 NP_001265373.1 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 0 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 TTTCAGAAGGGgtgtgtgtgtg 0.564 3 3 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 8 239 --- --- --- --- APOC1P1 0 broad.mit.edu 37 19 45434581 45434582 + RNA INS - - A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr19:45434581_45434582insA ENST00000574565.1 + 0 727_728 NR_028412.1 actaaaaatacaaaaaaaatag 0.550 2 4 --- --- --- --- BCAS1 8537 broad.mit.edu 37 20 52645037 52645037 + Frame_Shift_Del DEL T T - rs143209009 TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr20:52645037delT ENST00000395961.3 - 4 783 c.617delA c.(616-618)agfs p.K206fs BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 206 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) ACCTGGCACCTTTTCCTGTCC 0.552 8 1011 --- --- --- --- MGC20647 0 broad.mit.edu 37 22 30642384 30642386 + In_Frame_Del DEL GAG GAG - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chr22:30642384_30642386delGAG ENST00000593843.1 + 2 200_202 c.200_202delGAG c.(199-204)cga>c p.RG67del LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron TGTCCggagcgaggaggaggagg 0.606 5 8 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76931742 76931744 + In_Frame_Del DEL TCA TCA - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2be6181-6c54-4ab7-bea5-d5f94e8b65e5 a03f6870-eb79-4f62-9b59-5e12dffc9a97 g.chrX:76931742_76931744delTCA ENST00000373344.5 - 10 4000_4002 c.3786_3788delTGA c.(3784-3789)gac>ga p.DD1262del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.DD1224del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1262 Poly-Asp. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATCATTGTCGTCATCATCATCAT 0.379 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 405 --- --- --- ---