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 PI4KAP2 0 broad.mit.edu 37 22 21829555 21829555 + RNA SNP T T G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr22:21829555T>G ENST00000450651.1 - 0 1783 p.I530L(4) endometrium(3)|urinary_tract(1) 4 TCCAACATGATAGTGACCAGG 0.607000 5 77 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39950371 39950371 + Silent SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:39950371G>A ENST00000564288.1 + 100 23157 c.22380G>A c.(22378-22380)ccG>ccA p.P7460P MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000372915.3_Silent_p.P7293P|MACF1_ENST00000317713.7_Silent_p.P5335P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000567887.1_Silent_p.P7497P Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7293 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTTCTTCCCCGGCCTCCACAG 0.488000 106 561 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10106107 10106107 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:10106107C>T ENST00000287647.3 + 22 2108 c.2015C>T c.(2014-2016)cCg>cTg p.P672L FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000419585.1_Missense_Mutation_p.P672L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 672 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGTGTTGTTCCGGAAGGGTAG 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 39 730 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185033945 185033945 + Silent SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr4:185033945G>A ENST00000296741.2 - 6 1014 c.873C>T c.(871-873)agC>agT p.S291S NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 291 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GTTCCACTGTGCTCAGTTTGT 0.398000 107 444 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:195505814C>T ENST00000463781.3 - 2 13096 c.12637G>A c.(12637-12639)Gac>Aac p.D4213N MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213N(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGTGTCGGTGACAGGA 0.597000 3 46 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44559738 44559738 + Splice_Site SNP G G T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr22:44559738G>T ENST00000338758.6 + 12 1009 c.945_splice c.e12-1 p.V316_splice PARVB_ENST00000404989.1_Splice_Site_p.V279_splice|PARVB_ENST00000406477.3_Splice_Site_p.V349_splice NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 316 CH 2. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) TCCTTGGCAGGTCCACAATGT 0.622000 8 338 0.00621372 0.00627289 1 1 0 GLB1L2 89944 broad.mit.edu 37 11 134244879 134244879 + Missense_Mutation SNP A A C TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:134244879A>C ENST00000535456.2 + 19 2026 c.1838A>C c.(1837-1839)gAg>gCg p.E613A GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 613 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) ATCGTTTTTGAGGAGACGATG 0.627000 21 103 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487356 248487356 + Missense_Mutation SNP C C T rs145948434 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:248487356C>T ENST00000317965.2 - 1 543 c.515G>A c.(514-516)cGg>cAg p.R172Q NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R172L(1)|p.R172Q(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCTATTTCCCGAGACCCACA 0.433000 313 1485 0 0 1 0 0 NR6A1 2649 broad.mit.edu 37 9 127316820 127316820 + Nonsense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr9:127316820G>A ENST00000487099.2 - 3 329 c.172C>T c.(172-174)Cga>Tga p.R58* NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54* NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 58 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 AGACAGGTTCGTTGTTCAGCC 0.463000 82 357 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17026279 17026279 + Splice_Site SNP C C A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:17026279C>A ENST00000377833.4 - 30 4416 c.e30-1 NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCCATAGATCTAACATGGGA 0.473000 48 232 2.40228e-13 2.59838e-13 1 1 0 RP11-85K15.2 0 broad.mit.edu 37 14 35409527 35409527 + RNA SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr14:35409527C>T ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA TGGCAGCCAACAGAGCATGGG 0.527000 43 172 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16269204 16269204 + Missense_Mutation SNP C C A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:16269204C>A ENST00000375733.2 - 14 2096 c.1858G>T c.(1858-1860)Ggg>Tgg p.G620W ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G620W Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 620 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) AAGCCACGCCCACACTTATCA 0.612000 25 213 2.41591e-17 2.66757e-17 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56585592 56585592 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr18:56585592G>A ENST00000336078.4 + 4 849 c.73G>A c.(73-75)Gat>Aat p.D25N ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AGATATGGTCGATCCTAAAGC 0.468000 70 282 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992083 144992083 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:144992083G>A ENST00000322810.4 - 32 12486 c.12317C>T c.(12316-12318)gCg>gTg p.A4106V PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4106 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGCCGCCTGCGCCTCCAGGAG 0.632000 27 163 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36859706 36859706 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr20:36859706C>T ENST00000279024.4 - 5 2040 c.1769G>A c.(1768-1770)cGg>cAg p.R590Q NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 590 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AAGCAGGGGCCGCCCGGCCCT 0.637000 23 85 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180063129 180063129 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:180063129G>A ENST00000367607.3 + 34 8307 c.7889G>A c.(7888-7890)aGt>aAt p.S2630N CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2630 centrosome|nucleus|spindle p.S2630I(2) central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GTTAATAGAAGTAGAAGCCTT 0.388000 8 215 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207647654 207647654 + Missense_Mutation SNP T T A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:207647654T>A ENST00000367057.3 + 13 2498 c.2309T>A c.(2308-2310)aTt>aAt p.I770N CR2_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N|CR2_ENST00000367058.3_Missense_Mutation_p.I711N NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 840 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTCAAAAAGATTCCACTTTGT 0.388000 18 520 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86372901 86372901 + Silent SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:86372901C>T ENST00000370571.2 - 28 3120 c.2754G>A c.(2752-2754)ggG>ggA p.G918G COL24A1_ENST00000436319.1_Silent_p.G918G NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 918 Collagen-like 7. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GACCTTGACTCCCAGGTGGTC 0.348000 69 451 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 17 111 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27346443 27346443 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:27346443G>A ENST00000429845.2 - 13 1185 c.823C>T c.(823-825)Cgc>Tgc p.R275C NEK10_ENST00000341435.5_Missense_Mutation_p.R275C Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 275 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CAAAGTAGGCGCAGCAACTCC 0.502000 6 136 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73497867 73497867 + Silent SNP G G T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr17:73497867G>T ENST00000321617.3 - 18 3874 c.3288C>A c.(3286-3288)ccC>ccA p.P1096P CASKIN2_ENST00000433559.2_Silent_p.P1014P NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 1096 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TACCTGCTCCGGGCACCTTGA 0.637000 15 703 2.35188e-11 2.51818e-11 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 6 188 0 0 1 0 0 SLC22A24 283238 broad.mit.edu 37 11 62911079 62911079 + Missense_Mutation SNP G G C rs1939748 by1000genomes TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:62911079G>C ENST00000417740.1 - 1 614 c.173C>G c.(172-174)aCt>aGt p.T58S SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.T58S NM_001136506.2 NP_001129978.2 solute carrier family 22, member 24 kidney(1)|stomach(1) 2 GTCAGACACAGTGTCATTGTC 0.517000 6 180 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 7 213 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947235 37947235 + Missense_Mutation SNP A A T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:37947235A>T ENST00000373087.6 + 4 733 c.617A>T c.(616-618)aAg>aTg p.K206M NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 206 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding p.K206R(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGAAGAAGAAGATCCTGGTG 0.607000 72 397 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470187 10470187 + Missense_Mutation SNP C C G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:10470187C>G ENST00000382483.3 - 4 1644 c.1421G>C c.(1420-1422)aGg>aCg p.R474T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 474 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) CTCCGGGGTCCTGGGGCAGCA 0.701000 67 324 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 5 115 0.000219431 0.000228037 1 1 0 SON 6651 broad.mit.edu 37 21 34925124 34925124 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr21:34925124C>T ENST00000356577.4 + 3 4062 c.3587C>T c.(3586-3588)cCt>cTt p.P1196L SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000300278.4_Missense_Mutation_p.P1196L|SON_ENST00000381679.4_Missense_Mutation_p.P1196L NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1196 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 AATACTTGGCCTACAGAGGTG 0.527000 157 775 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90661558 90661558 + Silent SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr6:90661558C>T ENST00000257749.4 - 7 974 c.267G>A c.(265-267)ccG>ccA p.P89P RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 89 BTB. nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACTGTAACAGCGGCCCAAAGC 0.527000 8 280 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112046027 112046027 + Translation_Start_Site SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:112046027G>A ENST00000241356.4 - 0 355 ADORA3_ENST00000369716.4_De_novo_Start_OutOfFrame|ADORA3_ENST00000369717.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AGCAAGATCCGTCTGTAGGGC 0.542000 11 50 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3607671 3607671 + RNA SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr16:3607671C>T ENST00000301749.7 - 0 2427 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCTGGTTCTCCGCCAAGCTGC 0.527000 20 110 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 122999745 122999745 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr12:122999745C>T ENST00000331738.7 - 6 777 c.632G>A c.(631-633)aGa>aAa p.R211K RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 211 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GCTAAATCTTCTCGGCTTTTC 0.378000 70 333 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45817325 45817325 + Silent SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:45817325C>T ENST00000358525.4 - 4 625 c.510G>A c.(508-510)ccG>ccA p.P170P SLC6A20_ENST00000456124.2_Silent_p.P170P|SLC6A20_ENST00000353278.4_Silent_p.P170P NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 170 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) GGCACAGCGCCGGCTCCCACT 0.622000 107 448 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179583694 179583694 + Missense_Mutation SNP G G T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:179583694G>T ENST00000589042.1 - 84 24457 c.24233C>A c.(24232-24234)cCa>cAa p.P8078Q TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN_ENST00000591111.1_Missense_Mutation_p.P7761Q|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7761 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAAAAGATGGTGGTTCTAG 0.443000 9 82 0.00621372 0.00627289 1 1 0 POLRMT 5442 broad.mit.edu 37 19 620015 620015 + Silent SNP G G C TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:620015G>C ENST00000588649.2 - 12 2913 c.2829C>G c.(2827-2829)tcC>tcG p.S943S NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 943 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGTTGACGGAGGCGGCGC 0.697000 4 53 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52924608 52924608 + Missense_Mutation SNP A A G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr18:52924608A>G ENST00000354452.3 - 14 1695 c.1084T>C c.(1084-1086)Tgg>Cgg p.W362R TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000356073.4_Missense_Mutation_p.W362R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 362 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TTTCTAGACCAAACAGCTGTG 0.408000 16 609 0 0 1 0 0 SKAP2 8935 broad.mit.edu 37 7 26883668 26883668 + Translation_Start_Site SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr7:26883668G>A ENST00000539623.1 - 0 390 SKAP2_ENST00000345317.2_Silent_p.D96D O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 GGGCTTCATCGTCTTTATCAT 0.408000 144 811 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577544 7577544 + Missense_Mutation SNP A A C TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr17:7577544A>C ENST00000420246.2 - 7 869 c.737T>G c.(736-738)aTg>aGg p.M246R TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000269305.4_Missense_Mutation_p.M246R|TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 246 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTCCGGTTCATGCCGCCCAT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 215 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22928191 22928191 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:22928191G>A ENST00000166244.3 + 17 3047 c.2975G>A c.(2974-2976)cGg>cAg p.R992Q NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 992 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGACCATGCGGGCCCAGCTG 0.682000 6 38 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207867914 207867914 + Missense_Mutation SNP C C G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:207867914C>G ENST00000508064.2 + 5 740 c.680C>G c.(679-681)cCt>cGt p.P227R CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 227 cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGCATTATACCTAACAAATGC 0.448000 265 1150 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17660273 17660273 + Missense_Mutation SNP G G T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:17660273G>T ENST00000335393.4 + 15 1918 c.1780G>T c.(1780-1782)Gcc>Tcc p.A594S FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 594 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GACCCTTGGTGCCAATGATGT 0.527000 106 721 4.07119e-57 4.69072e-57 1 1 0 MTMR12 54545 broad.mit.edu 37 5 32235181 32235181 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr5:32235181G>A ENST00000382142.3 - 14 1569 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S|MTMR12_ENST00000264934.5_Intron NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 467 Interaction with MTM1.|Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AATGCCGGGGGATGCTGGTGC 0.453000 8 268 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141200116 141200116 + Silent SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:141200116G>A ENST00000389484.3 - 66 11342 c.10371C>T c.(10369-10371)gaC>gaT p.D3457D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3457 LDL-receptor class A 24. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGATCCTCGTCACAAACCC 0.463000 TSP Lung(27;0.18) 81 431 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36855620 36855620 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr20:36855620C>T ENST00000279024.4 - 7 2259 c.1988G>A c.(1987-1989)cGg>cAg p.R663Q NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 663 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GAGAATAGCCCGGATAGAGGC 0.572000 21 139 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40650700 40650700 + Silent SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr21:40650700G>A ENST00000342449.3 - 10 1050 c.972C>T c.(970-972)ggC>ggT p.G324G BRWD1_ENST00000333229.2_Silent_p.G324G|BRWD1_ENST00000380800.3_Silent_p.G324G NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GCATTTGAACGCCTGGCCTAG 0.333000 124 553 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32143120 32143120 + Silent SNP T T C TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:32143120T>C ENST00000375250.5 - 5 1204 c.963A>G c.(961-963)gaA>gaG p.E321E ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000344936.2_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 321 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) AGTAGTTTTCTTCCGATGAAA 0.348000 73 296 0 0 1 0 0 NUDT9 53343 broad.mit.edu 37 4 88370318 88370318 + Missense_Mutation SNP T T A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr4:88370318T>A ENST00000473942.1 + 5 527 c.405T>A c.(403-405)aaT>aaA p.N135K NUDT9_ENST00000302174.4_Missense_Mutation_p.N185K|NUDT9_ENST00000515371.1_3'UTR NM_198038.2 NP_932155.1 Q9BW91 NUDT9_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 9 185 mitochondrion ADP-ribose diphosphatase activity endometrium(1)|large_intestine(4)|lung(6) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) GCAGTGGAAATAAAATCATGC 0.338000 77 198 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98145915 98145915 + Missense_Mutation SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:98145915G>A ENST00000357947.3 - 15 2135 c.1910C>T c.(1909-1911)cCg>cTg p.P637L NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 637 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ATACTCCTTCGGCCACCCAGG 0.532000 85 515 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 12 151 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100861089 100861089 + Missense_Mutation SNP G G T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:100861089G>T ENST00000358544.2 + 55 10214 c.10103G>T c.(10102-10104)gGa>gTa p.G3368V VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3368 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCCCCAGAAGGAAAAGCAGGA 0.398000 16 618 1.15088e-07 1.20785e-07 1 1 0 PRL 5617 broad.mit.edu 37 6 22292852 22292852 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr6:22292852C>T ENST00000306482.1 - 3 745 c.227G>A c.(226-228)cGg>cAg p.R76Q RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 76 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) AATGAACCCCCGGCCATGGGT 0.458000 51 183 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69218184 69218184 + Missense_Mutation SNP C C G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr12:69218184C>G ENST00000462284.1 + 6 702 c.400C>G c.(400-402)Cac>Gac p.H134D MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.H103D|MDM2_ENST00000348801.2_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 128 cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GAACAGGTGTCACCTTGAAGG 0.423000 A """sarcoma, glioma, colorectal, other""" 44 247 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52235424 52235424 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr5:52235424C>T ENST00000282588.6 + 25 3541 c.3083C>T c.(3082-3084)gCa>gTa p.A1028V CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 1028 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TTCTAGAATGCAAACTGCAGA 0.383000 36 238 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 43 101 0 0 1 0 0 FAM5B 0 broad.mit.edu 37 1 177199125 177199125 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:177199125C>T ENST00000361539.4 + 2 425 c.113C>T c.(112-114)gCg>gTg p.A38V NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 38 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TCAGCCACGGCGGCTGCTGTG 0.687000 52 314 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628834 87628834 + Missense_Mutation SNP G G A rs143353694 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:87628834G>A ENST00000327946.7 - 6 969 c.884C>T c.(883-885)aCg>aTg p.T295M NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 295 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GTTGTTCCTCGTGCATTTCTG 0.572000 Multiple Myeloma(13;0.14) 90 370 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7796974 7796974 + Splice_Site SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:7796974C>T ENST00000598081.1 - 1 117 c.e1+1 CLEC4G_ENST00000328853.5_Silent_p.R5R Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 ACTTGCTGTACCTGGTGGTGT 0.612000 49 256 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104173704 104173704 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:104173704C>T ENST00000020673.5 - 5 1901 c.1375G>A c.(1375-1377)Gcc>Acc p.A459T PSD_ENST00000406432.1_Missense_Mutation_p.A459T NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 459 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCAAGTGGGGCGGGAGCTGGT 0.657000 74 326 0 0 1 0 0 AC018865.8 0 broad.mit.edu 37 2 130786002 130786002 + RNA SNP G G A rs34238944 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:130786002G>A ENST00000325390.3 - 0 2865 NR_026758.1 ATATGGCCTCGTCAAAGCTCT 0.468000 10 97 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156128241 156128241 + Silent SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:156128241C>T ENST00000368285.3 + 5 693 c.426C>T c.(424-426)tgC>tgT p.C142C SEMA4A_ENST00000368282.1_Silent_p.C142C|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.C142C NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 142 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TCTACACCTGCGGCACCTTCG 0.537000 149 787 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871064 170871064 + Silent SNP G G A rs112748399 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr6:170871064G>A ENST00000392092.2 + 3 519 c.240G>A c.(238-240)caG>caA p.Q80Q TBP_ENST00000540980.1_Silent_p.Q60Q|TBP_ENST00000230354.6_Silent_p.Q80Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 80 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 0.577000 15 359 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094411 30094411 + Missense_Mutation SNP T T G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr7:30094411T>G ENST00000449726.1 + 8 1233 c.883T>G c.(883-885)Tgc>Ggc p.C295G PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 295 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 AGACTCAAGTTGCTCTCCGGA 0.403000 102 548 0 0 1 0 0 VTRNA2-1 0 broad.mit.edu 37 5 135416282 135416282 + RNA SNP G G A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr5:135416282G>A ENST00000602301.1 - 0 4 NR_030583.2 AGCTAACTCCGACCCGGGTAG 0.582000 39 216 0 0 1 0 0 GPR183 1880 broad.mit.edu 37 13 99947840 99947840 + Missense_Mutation SNP A A G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr13:99947840A>G ENST00000376414.4 - 2 643 c.560T>C c.(559-561)tTt>tCt p.F187S UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 187 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 AGTTTCTTCAAAGTTTGGATA 0.413000 88 416 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55501388 55501388 + Splice_Site SNP A A G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:55501388A>G ENST00000543010.1 + 9 2509 c.e9-1 NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 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) TTTCTCCCACAGGTTGGTGTC 0.517000 52 291 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74806700 74806700 + Missense_Mutation SNP C C G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:74806700C>G ENST00000412021.2 - 9 1393 c.1060G>C c.(1060-1062)Gac>Cac p.D354H P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D354H NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 354 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTTGCTAGGTCTTTGACGATT 0.328000 17 670 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161495096 161495096 + Silent SNP T T G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:161495096T>G ENST00000309758.4 + 1 1061 c.648T>G c.(646-648)gcT>gcG p.A216A NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 216 response to unfolded protein ATP binding p.A216A(1) endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCATTGACGCTGGTGTCTTTG 0.597000 31 226 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780770 94780770 + Missense_Mutation SNP C C T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr14:94780770C>T ENST00000341584.3 - 2 362 c.216G>A c.(214-216)atG>atA p.M72I NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 72 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TAGCTAAGGCCATGGAGATGC 0.547000 61 257 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 8 69 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103355065 103355065 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:103355065delT ENST00000358392.2 - 59 4763 c.4446delA c.(4444-4446)aafs p.K1482fs COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1470 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCGGTCACCTTTTTCCCCTT 0.408 7 600 --- --- --- --- TSPAN2 10100 broad.mit.edu 37 1 115601537 115601537 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:115601537delT ENST00000369516.2 - 5 442 c.411delA c.(409-411)aafs p.K137fs TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs|TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 137 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TCCCATTGCCTTTTCCCCTGT 0.418 7 1172 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 7 1174 --- --- --- --- RHOU 58480 broad.mit.edu 37 1 228879333 228879333 + Frame_Shift_Del DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr1:228879333delA ENST00000366691.3 + 3 1289 c.623delA c.(622-624)cafs p.Q208fs NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 208 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) GCCTTGACTCAAAAAAACCTC 0.493 7 848 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28521301 28521301 + Frame_Shift_Del DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:28521301delA ENST00000344773.2 + 11 1169 c.1031delA c.(1030-1032)cafs p.Q344fs BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TCCCAGGCCCAAAAAAATTAT 0.448 9 907 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 13 868 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74452025 74452025 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:74452025delT ENST00000394019.2 - 28 3585 c.3188delA c.(3187-3189)agfs p.K1063fs SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K982fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K982fs|SLC4A5_ENST00000483195.1_5'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1079 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GTCTGTCTCCTTTTTTTCCTT 0.517 8 664 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 9 265 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:99977775_99977777delTGA ENST00000289371.5 + 4 613_615 c.411_413delTGA c.(409-414)agt>ag p.SD137del NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 137 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTCTGGGAGTGATGATGATGAT 0.345 8 713 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 7 317 --- --- --- --- RBM43 375287 broad.mit.edu 37 2 152112047 152112048 + Splice_Site INS - - T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:152112047_152112048insT ENST00000331426.5 - 2 364_365 c.214_splice c.e2+1 p.NC71_splice NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 71 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TTGGAAATACCTTTTTTTTCTT 0.287 7 864 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 7 649 --- --- --- --- UGT1A4 0 broad.mit.edu 37 2 234627977 234627977 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:234627977delT ENST00000373409.3 + 1 554 c.511delT c.(511-513)ttfs p.F172fs UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) TCCTGCTGTGTTTTTTTGGAG 0.458 7 1219 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 479 --- --- --- --- GRM7 2917 broad.mit.edu 37 3 7621012 7621013 + Frame_Shift_Ins INS - - T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:7621012_7621013insT ENST00000486284.1 + 8 2693_2694 c.2419_2420insT c.(2419-2421)tttfs p.F807fs GRM7_ENST00000403881.1_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.F807fs NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 807 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CTTCATTCCAATTTTTTTTGGC 0.381 8 223 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679486 42679486 + Frame_Shift_Del DEL A A - rs150528581 byFrequency TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:42679486delA ENST00000232978.8 + 13 2478 c.2290delA c.(2290-2292)aafs p.K765fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 765 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATCCAGTGGGAAAAAAAATAG 0.378 9 597 --- --- --- --- PIK3CB 5291 broad.mit.edu 37 3 138413710 138413710 + Frame_Shift_Del DEL G G - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:138413710delG ENST00000477593.1 - 13 1883 c.1810delC c.(1810-1812)ggfs p.R604fs PIK3CB_ENST00000289153.2_Frame_Shift_Del_p.R604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Del_p.R50fs P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 604 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGGGCCTCCCGGGGGGGCAGT 0.468 8 643 --- --- --- --- RP11-85M11.2 0 broad.mit.edu 37 3 165320478 165320481 + RNA DEL TATA TATA - rs150429698 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:165320478_165320481delTATA ENST00000496693.1 + 0 508 atttttattttatatatatatata 0.314 4 5 --- --- --- --- RNF168 165918 broad.mit.edu 37 3 196214353 196214353 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr3:196214353delT ENST00000318037.3 - 3 1069 c.475delA c.(475-477)gafs p.R159fs NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 159 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TCTGCCTGTCTTTTTTCCTCT 0.458 9 1642 --- --- --- --- C4orf26 152816 broad.mit.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr4:76489680delA ENST00000435974.2 + 3 486 c.468delA c.(466-468)gcfs p.A156fs C4orf26_ENST00000311623.4_3'UTR NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATACTGAAGCAAAAAAAAGCC 0.363 7 675 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 13 435 --- --- --- --- TICAM2 353376 broad.mit.edu 37 5 114916896 114916896 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr5:114916896delT ENST00000427199.2 - 2 499 c.58delA c.(58-60)ggfs p.R20fs TICAM2_ENST00000408996.4_Splice_Site|TMED7-TICAM2_ENST00000282382.4_Splice_Site|TMED7-TICAM2_ENST00000333314.3_3'UTR NM_021649.6 NP_067681.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) ACACTGTGCCTTTTACCCCAA 0.398 8 1051 --- --- --- --- LINC00518 0 broad.mit.edu 37 6 10430699 10430701 + RNA DEL TTT TTT - rs79230388 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr6:10430699_10430701delTTT ENST00000496285.1 - 0 489 NR_027793.1 CTCTGACTAGttttttttttttt 0.448 7 16 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 9 1716 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34826124 34826124 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr6:34826124delT ENST00000192788.5 + 14 2162 c.1991delT c.(1990-1992)ctfs p.L664fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 664 p.L666fs*15(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CTGCACATGCTTTTTTTGCAT 0.502 7 690 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72297413 72297413 + RNA DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr7:72297413delA ENST00000438125.1 - 0 234 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ATACTCTATTAAAAAAAATAA 0.323 8 460 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151856009 151856009 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr7:151856009delT ENST00000355193.2 - 44 11827 c.11609delA c.(11608-11610)agfs p.K3870fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K3870fs lysine (K)-specific methyltransferase 2C CTCTTCGTCCTTTTTCCTTTT 0.458 8 1752 --- --- --- --- MFHAS1 9258 broad.mit.edu 37 8 8749703 8749703 + Frame_Shift_Del DEL G G - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:8749703delG ENST00000276282.6 - 1 1452 c.866delC c.(865-867)ctfs p.P289fs NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 289 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CAGCGCGGCAGGGAACTCCTC 0.627 55 229 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 7 1026 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 12 2136 --- --- --- --- OTUD6B 51633 broad.mit.edu 37 8 92097044 92097046 + In_Frame_Del DEL ATT ATT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr8:92097044_92097046delATT ENST00000285420.4 + 7 1019_1021 c.920_922delATT c.(919-924)cat>c p.HY307del OTUD6B_ENST00000404789.3_In_Frame_Del_p.HY176del NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 277 endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) TTAGGAGAACATTATAATTCGGT 0.276 17 76 --- --- --- --- HNRNPK 3190 broad.mit.edu 37 9 86586806 86586808 + In_Frame_Del DEL GGT GGT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr9:86586806_86586808delGGT ENST00000376263.3 - 11 1165_1167 c.942_944delACC c.(940-945)cct>cc p.PP314del HNRNPK_ENST00000351839.3_In_Frame_Del_p.PP314del|HNRNPK_ENST00000360384.5_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376281.4_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376264.2_In_Frame_Del_p.PP314del NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 314 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 CCCCCCTCTAGGTGGTGGTGGTG 0.522 9 670 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 9 1848 --- --- --- --- RAB14 51552 broad.mit.edu 37 9 123954450 123954450 + Splice_Site DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr9:123954450delT ENST00000373840.4 - 3 342 c.106_splice c.e3+1 p.K35_splice NM_016322.3 NP_057406.2 P61106 RAB14_HUMAN RAB14, member RAS oncogene family 35 embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle GDP binding|GTP binding|GTPase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TGAACTTACATTTTTTTTCTG 0.294 7 579 --- --- --- --- STAM 8027 broad.mit.edu 37 10 17756616 17756618 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:17756616_17756618delCTG ENST00000377524.3 + 14 1675_1677 c.1460_1462delCTG c.(1459-1464)act>a p.TA487del STAM_ENST00000540523.1_In_Frame_Del_p.TA376del NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 487 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 CCTGCCGCTACTGCTGCTGCTGC 0.493 7 653 --- --- --- --- ARL5B 221079 broad.mit.edu 37 10 18961589 18961595 + Frame_Shift_Del DEL ACTAGCT ACTAGCT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:18961589_18961595delACTAGCT ENST00000377275.3 + 4 527_533 c.294_300delACTAGCT c.(292-300)cgfs p.RLA98fs NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B 98 small GTPase mediated signal transduction intracellular GTP binding lung(1)|ovary(1) 2 ACAGGGAACGACTAGCTATTACAAAAG 0.309 43 507 --- --- --- --- ANKRD26 22852 broad.mit.edu 37 10 27337806 27337808 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:27337806_27337808delCAT ENST00000376087.4 - 17 1901_1903 c.1736_1738delATG c.(1735-1740)gga>g p.DG579del ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del|ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 579 Poly-Asp. centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TGAATTAATCcatcatcatcatc 0.345 7 299 --- --- --- --- POLL 27343 broad.mit.edu 37 10 103345131 103345133 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr10:103345131_103345133delGGA ENST00000370162.3 - 4 1007_1009 c.513_515delTCC c.(511-516)ccc>cc p.PP171del DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 171 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGGCCTGGTGGGAGGAGGAGGAG 0.591 DNA polymerases (catalytic subunits) 11 504 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19296062 19296063 + RNA INS - - A rs34104745 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:19296062_19296063insA ENST00000527978.1 + 0 339 gactctgtttcaaaaaaaaaaa 0.480 7 24 --- --- --- --- GDPD4 220032 broad.mit.edu 37 11 76928312 76928315 + Splice_Site DEL ATCT ATCT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:76928312_76928315delATCT ENST00000376217.2 - 17 1791_1792 c.1540_splice c.e17-1 p.514_splice GDPD4_ENST00000315938.4_3'UTR Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 514 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTATGTGCAAatctatctatctat 0.471 13 516 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85437269 85437269 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:85437269delT ENST00000359152.5 - 1 1802 c.1803delA c.(1801-1803)aafs p.K601fs SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 113 Ser-rich. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTGCCATAACTTTTTTTGGGC 0.373 7 807 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89391931 89391932 + RNA INS - - T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:89391931_89391932insT ENST00000532352.1 + 0 528 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AAAATTATCTCTTTTTTTTCTC 0.292 25 179 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 13 25 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 8 188 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 7 1031 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 8 578 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 10 1378 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32907421 32907421 + Frame_Shift_Del DEL A A - rs80359307 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr13:32907421delA ENST00000544455.1 + 10 2033 c.1806delA c.(1804-1806)ggfs p.G602fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 602 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTATAAAGGAAAAAAAATAC 0.303 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 8 386 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000556148.1_Intron TTGCTGTTCTCTTTTTTTTGTG 0.371 8 514 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 7 944 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 8 661 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 7 47 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 12 873 --- --- --- --- RP11-34F13.3 0 broad.mit.edu 37 15 68136075 68136075 + RNA DEL G G - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr15:68136075delG ENST00000558889.1 + 0 121 GAGGGAAGGAGGGAGGAAGGA 0.552 2 4 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 9 251 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 10 331 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822009 72822011 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr16:72822009_72822011delTGC ENST00000268489.5 - 10 10836_10838 c.10164_10166delGCA c.(10162-10167)caa>ca p.QQ3388del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2474del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3388 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ctgcactttttgctgctgctgct 0.591 8 289 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822586 72822586 + Frame_Shift_Del DEL G G - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr16:72822586delG ENST00000268489.5 - 10 10261 c.9589delC c.(9589-9591)agfs p.Q3204fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3204 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) tgctgctgctgGGGGGGTTGC 0.657 8 950 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49157025 49157025 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr17:49157025delT ENST00000262013.7 - 2 552 c.344delA c.(343-345)agfs p.K115fs RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 115 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTGTAAGTCCTTTTTTTCCTG 0.313 7 811 --- --- --- --- ZNF271 0 broad.mit.edu 37 18 32888090 32888090 + RNA DEL C C - rs12965288 by1000genomes TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr18:32888090delC ENST00000399070.3 + 0 2484 NR_024565.1|NR_024566.1 large_intestine(3)|lung(9) 12 aaaaaaaaaaCCACCAATACC 0.393 3 4 --- --- --- --- UBXN6 80700 broad.mit.edu 37 19 4454085 4454085 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:4454085delT ENST00000301281.6 - 2 213 c.89delA c.(88-90)agfs p.K30fs UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 30 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTTGTGGGCCTTTTCCCTGGG 0.667 8 1232 --- --- --- --- ZNF559 84527 broad.mit.edu 37 19 9452027 9452028 + Frame_Shift_Del DEL CT CT - rs55837495 TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:9452027_9452028delCT ENST00000592504.1 + 6 665_666 c.410_411delCT c.(409-411)afs p.T137fs ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000393883.2_Intron Q9BR84 ZN559_HUMAN zinc finger protein 559 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTGACAAACACTCTAAACATCC 0.347 12 21 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 14 739 --- --- --- --- FPR3 2359 broad.mit.edu 37 19 52327875 52327875 + Frame_Shift_Del DEL T T - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:52327875delT ENST00000339223.4 + 2 1053 c.874delT c.(874-876)ttfs p.F293fs FPR3_ENST00000595991.1_Frame_Shift_Del_p.F293fs NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 293 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTCCTTGGCCTTTTTTAACAG 0.428 8 989 --- --- --- --- ZNF611 81856 broad.mit.edu 37 19 53208246 53208247 + Frame_Shift_Ins INS - - A TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr19:53208246_53208247insA ENST00000543227.1 - 6 2335_2336 c.2061_2062insT c.(2059-2064)ttatcafs p.LS687fs ZNF611_ENST00000319783.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000540744.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000595798.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000602162.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000453741.2_Frame_Shift_Ins_p.LS618fs NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GATTGTTGATTAAAAGCCTTCC 0.391 140 568 --- --- --- --- RTEL1 51750 broad.mit.edu 37 20 62292822 62292824 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0121cca-1fde-4733-8fe1-0a949d789d93 b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32 g.chr20:62292822_62292824delGCT ENST00000318100.4 + 3 1101_1103 c.274_276delGCT c.(274-276)del p.A96del RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 96 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CTGGGGCAACGCTGCTGCTGCTG 0.645 7 203 --- --- --- ---