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 SERPINA10 51156 broad.mit.edu 37 14 94756570 94756570 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr14:94756570C>G ENST00000554723.1 - 2 899 c.481G>C c.(481-483)Gaa>Caa p.E161Q SERPINA10_ENST00000261994.4_Missense_Mutation_p.E121Q|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E121Q|SERPINA10_ENST00000393096.1_Missense_Mutation_p.E121Q Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 121 T -> S (in dbSNP:rs2232700). regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.E121Q(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) ATCTGGGTTTCAGTCGGCCCT 0.592000 13 38 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71276542 71276542 + Missense_Mutation SNP A A C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr15:71276542A>C ENST00000260382.5 + 11 1375 c.1115A>C c.(1114-1116)cAg>cCg p.Q372P LRRC49_ENST00000560691.1_Missense_Mutation_p.Q78P|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q328P|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q377P|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q60P|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q362P NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 372 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GACTCTCCTCAGGACCCCTGT 0.413000 6 88 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876750 53876750 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:53876750G>T ENST00000267079.2 - 12 1963 c.1738C>A c.(1738-1740)Cta>Ata p.L580I MAP3K12_ENST00000547488.1_Missense_Mutation_p.L613I|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L613I NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 580 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CCCCCTCCTAGGCCCCCTGGG 0.662000 12 25 2.80697e-09 2.97709e-09 1 1 0 DCHS1 8642 broad.mit.edu 37 11 6654847 6654847 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr11:6654847G>A ENST00000299441.3 - 5 2662 c.2251C>T c.(2251-2253)Cgg>Tgg p.R751W RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 751 Cadherin 7. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R751W(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATTGGCCCGTCTGGCCAAG 0.547000 3 5 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122145474 122145474 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr2:122145474C>A ENST00000263710.4 - 31 3521 c.3132G>T c.(3130-3132)caG>caT p.Q1044H CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1016H|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1039H|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1023H|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q790H|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1022H|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q800H NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1044 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TTAGCACAATCTGTGCTGCCT 0.333000 5 26 0.000602214 0.000616301 1 1 0 CNDP2 55748 broad.mit.edu 37 18 72167227 72167227 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr18:72167227C>T ENST00000324262.4 + 2 335 c.19C>T c.(19-21)Ctg>Ttg p.L7L CNDP2_ENST00000579847.1_Silent_p.L7L|CNDP2_ENST00000324301.8_Silent_p.L7L NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 7 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CCTCACTACCCTGTTTAAGTA 0.453000 12 29 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49992673 49992673 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:49992673G>A ENST00000544141.1 - 5 2558 c.1959C>T c.(1957-1959)gcC>gcT p.A653A FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Silent_p.A743A Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 743 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGAGGTTCTGGGCCTTGTAGG 0.542000 13 65 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380687 6380687 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:6380687C>T ENST00000394456.5 - 12 1710 c.1246G>A c.(1246-1248)Gag>Aag p.E416K GTF2F1_ENST00000429701.2_Missense_Mutation_p.E331K NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 416 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 GCAGGCATCTCGCTCACCCGC 0.652000 13 41 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18160204 18160204 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:18160204C>T ENST00000388870.2 + 3 319 c.78C>T c.(76-78)tcC>tcT p.S26S KDM1B_ENST00000397244.1_Silent_p.S26S|KDM1B_ENST00000297792.5_Silent_p.S26S|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 26 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TGAGGAGCTCCGGTAGGCAGG 0.403000 7 19 0 0 1 0 0 MT1H 4496 broad.mit.edu 37 16 56704426 56704426 + Missense_Mutation SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr16:56704426T>C ENST00000569155.1 + 2 82 c.37T>C c.(37-39)Tgc>Cgc p.C13R MT1H_ENST00000332374.4_Missense_Mutation_p.C13R P80294 MT1H_HUMAN metallothionein 1H 13 Beta. metal ion binding|protein binding lung(5) 5 AGGTGGCTCCTGCGCCTGCGC 0.547000 11 34 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33575400 33575400 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:33575400G>A ENST00000262873.7 + 15 1406 c.1314G>A c.(1312-1314)ggG>ggA p.G438G NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 396 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TCAGCAGTGGGGACCTCCTCA 0.632000 5 99 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766065 77766065 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:77766065G>A ENST00000521891.2 + 10 7356 c.6908G>A c.(6907-6909)cGg>cAg p.R2303Q ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2258Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2277Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2258Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2258 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTAATGAACGGTACATTCGA 0.383000 HNSCC(33;0.089) 17 41 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114533 27114533 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:27114533C>T ENST00000396891.4 - 1 86 c.45G>A c.(43-45)tcG>tcA p.S15S HIST1H2BK_ENST00000356950.1_Silent_p.S15S NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 15 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CGGCTTTCTTCGAGCCCTTCT 0.577000 33 160 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 5 33 0 0 1 0 0 TCEAL7 56849 broad.mit.edu 37 X 102586458 102586458 + Nonsense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:102586458C>T ENST00000332431.4 + 3 381 c.127C>T c.(127-129)Cag>Tag p.Q43* TCEAL7_ENST00000372666.1_Nonsense_Mutation_p.Q43* NM_152278.3 NP_689491.1 Q9BRU2 TCAL7_HUMAN transcription elongation factor A (SII)-like 7 43 negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 gaggctgcttcagtctctcga 0.438000 23 42 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55534753 55534753 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:55534753C>T ENST00000294383.6 - 68 7827 c.7828G>A c.(7828-7830)Gag>Aag p.E2610K USP24_ENST00000407756.1_Missense_Mutation_p.E2450K NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2610 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTTCTCAACTCACCAATCATC 0.438000 22 42 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11457183 11457183 + Missense_Mutation SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:11457183T>C ENST00000423059.3 - 17 3682 c.3431A>G c.(3430-3432)tAc>tGc p.Y1144C AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1144 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTCACAGAGGTAATCCTCTAC 0.428000 HNSCC(18;0.044) 9 29 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95086373 95086373 + Missense_Mutation SNP A A G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr9:95086373A>G ENST00000545558.1 - 2 563 c.71T>C c.(70-72)cTa>cCa p.L24P NOL8_ENST00000442668.2_Missense_Mutation_p.L24P|NOL8_ENST00000543985.1_5'UTR|NOL8_ENST00000542053.1_Intron|NOL8_ENST00000535387.1_Missense_Mutation_p.L24P|NOL8_ENST00000358855.4_5'UTR Q76FK4 NOL8_HUMAN nucleolar protein 8 24 RRM. DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CTGATTTTGTAGGTCTGCCTC 0.458000 53 50 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998101 27998101 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:27998101C>T ENST00000441525.1 - 1 1465 c.1351G>A c.(1351-1353)Gag>Aag p.E451K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 451 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ACGACAAACTCACTCCGGGGG 0.458000 6 29 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671519 25671519 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr13:25671519C>G ENST00000281589.3 + 1 1220 c.1183C>G c.(1183-1185)Cag>Gag p.Q395E NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 395 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding 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) TGTGCCCAACCAGCGAGCACC 0.502000 9 74 0 0 1 0 0 CFP 5199 broad.mit.edu 37 X 47486637 47486637 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:47486637C>T ENST00000247153.3 - 6 910 c.669G>A c.(667-669)aaG>aaA p.K223K CFP_ENST00000396992.3_Silent_p.K223K|CFP_ENST00000377005.2_Silent_p.K223K NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 223 TSP type-1 3. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 GTGCAGAACACTTGCGGCTTC 0.692000 8 26 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6696667 6696667 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:6696667C>T ENST00000245907.6 - 22 2892 c.2800G>A c.(2800-2802)Gaa>Aaa p.E934K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 934 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTGATTCCTTCCGGCTACGCA 0.577000 34 123 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 46 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50768911 50768911 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:50768911G>A ENST00000216923.4 - 6 2169 c.1820C>T c.(1819-1821)tCg>tTg p.S607L ZFP64_ENST00000371515.4_Missense_Mutation_p.S605L|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.S553L|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 AGTAATACCCGAACTGGTAAT 0.562000 12 44 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243653 137243653 + Silent SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:137243653C>G ENST00000331858.4 + 1 252 c.87C>G c.(85-87)ctC>ctG p.L29L NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 29 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) ACATCTTGCTCAAGTTCCTCA 0.692000 4 22 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577328 9577328 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:9577328C>A ENST00000301480.4 - 10 2508 c.2295G>T c.(2293-2295)gaG>gaT p.E765D NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 765 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CAAAGGGTTTCTCTCCCATAT 0.438000 24 72 1.85244e-09 1.98882e-09 1 1 0 PNMA2 10687 broad.mit.edu 37 8 26366057 26366057 + Missense_Mutation SNP T T G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:26366057T>G ENST00000522362.2 - 3 1109 c.215A>C c.(214-216)gAt>gCt p.D72A NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 72 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) gacatcagtatcttccagaag 0.483000 24 36 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105263991 105263991 + Missense_Mutation SNP A A C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:105263991A>C ENST00000507740.1 + 22 3671 c.3435A>C c.(3433-3435)agA>agC p.R1145S RIMS2_ENST00000262231.10_Missense_Mutation_p.R1170S|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1349S|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1331S|RIMS2_ENST00000339750.2_Missense_Mutation_p.R267S NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1393 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTCTGACAAGAAGAGCTTCCC 0.428000 HNSCC(12;0.0054) 30 142 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 4 7 0 0 1 0 0 ENTPD6 955 broad.mit.edu 37 20 25205869 25205869 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:25205869G>A ENST00000433259.2 + 13 1339 c.1213G>A c.(1213-1215)Gag>Aag p.E405K ENTPD6_ENST00000376652.4_Silent_p.Q424Q|ENTPD6_ENST00000360031.2_Silent_p.Q423Q|ENTPD6_ENST00000354989.5_Silent_p.Q407Q|ENTPD6_ENST00000485936.1_3'UTR O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 0 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CACAGCCGCAGAGCAGCCCCT 0.627000 7 24 0 0 1 0 0 AMACR 23600 broad.mit.edu 37 5 34007993 34007993 + Missense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:34007993G>C ENST00000335606.6 - 1 220 c.132C>G c.(130-132)agC>agG p.S44R AMACR_ENST00000502637.1_Missense_Mutation_p.S44R|AMACR_ENST00000382072.2_Missense_Mutation_p.S44R|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S44R|AMACR_ENST00000382085.3_Missense_Mutation_p.S44R NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 44 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 GGCCCAAGCGGCTCACGTCGT 0.721000 4 12 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197898183 197898183 + Nonsense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:197898183G>T ENST00000367390.3 + 6 988 c.961G>T c.(961-963)Gag>Tag p.E321* LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367387.4_Nonsense_Mutation_p.E330*|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 330 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 TTTGCGGCAGGAGAATGGGGG 0.512000 14 58 1.05317e-09 1.13768e-09 1 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1706889 1706889 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr16:1706889G>A ENST00000397412.3 + 10 2230 c.2131G>A c.(2131-2133)Ggc>Agc p.G711S CRAMP1L_ENST00000436138.3_Missense_Mutation_p.G708S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.G89S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.G711S|LA16c-431H6.6_ENST00000454337.1_3'UTR Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 711 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GCTGGGGCCCGGCCGCCAGGA 0.662000 3 1 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160597 104160597 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:104160597G>A ENST00000414303.2 + 2 254 c.190G>A c.(190-192)Gtt>Att p.V64I NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 64 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) AAATGAAAATGTTGCAATTTA 0.333000 37 110 0 0 1 0 0 PRIM1 5557 broad.mit.edu 37 12 57135538 57135538 + Missense_Mutation SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:57135538T>C ENST00000338193.6 - 8 868 c.832A>G c.(832-834)Aga>Gga p.R278G NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 278 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding kidney(1)|lung(6)|prostate(1) 8 ACCTGATATCTGCTGGCTACT 0.363000 55 159 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44237688 44237688 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr22:44237688G>A ENST00000330884.4 - 2 414 c.294C>T c.(292-294)atC>atT p.I98I SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.I98I NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 98 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) GTACCTTGATGATGTCCAGGC 0.587000 38 65 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50052898 50052898 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:50052898G>A ENST00000376042.1 + 6 2027 c.1729G>A c.(1729-1731)Gag>Aag p.E577K CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E577K Q8WWL7 CCNB3_HUMAN cyclin B3 577 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CCCTACAACTGAGGAGACAGT 0.408000 15 24 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153648421 153648421 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:153648421C>T ENST00000299328.5 + 8 923 c.634C>T c.(634-636)Ctg>Ttg p.L212L TAZ_ENST00000369776.4_Silent_p.L143L|TAZ_ENST00000351413.4_Silent_p.L198L|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000350743.4_Silent_p.L182L|TAZ_ENST00000369790.4_Silent_p.L168L NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 212 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATCCTGCCCCTGTGGCATGT 0.637000 36 97 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120468088 120468088 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:120468088C>G ENST00000256646.2 - 25 4570 c.4351G>C c.(4351-4353)Gat>Cat p.D1451H NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1451 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACCCCCATCCCACTGGCAG 0.592000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 20 76 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46518114 46518114 + Nonsense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:46518114G>A ENST00000275016.2 - 12 1602 c.1399C>T c.(1399-1401)Caa>Taa p.Q467* NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 467 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 CATATTCTTTGTTTATATTCA 0.468000 10 28 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 78 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108459049 108459049 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr10:108459049C>T ENST00000263054.6 - 9 1343 c.1336G>A c.(1336-1338)Gtc>Atc p.V446I SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.V446I NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 446 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTGAAGTAGACACCACGTGTG 0.512000 18 54 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101627081 101627081 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:101627081G>A ENST00000310954.6 - 2 871 c.585C>T c.(583-585)ttC>ttT p.F195F NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 195 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ATTCTCCACTGAAAAATTGTG 0.358000 9 54 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8438760 8438760 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr17:8438760C>T ENST00000360416.3 - 16 1977 c.1839G>A c.(1837-1839)gtG>gtA p.V613V MYH10_ENST00000269243.4_Silent_p.V603V|MYH10_ENST00000396239.1_Silent_p.V603V|MYH10_ENST00000379980.4_Silent_p.V619V NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 603 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AAAGGGTGGCCACGTTGTCAT 0.458000 14 55 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28211938 28211938 + Missense_Mutation SNP G G A rs147739833 TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:28211938G>A ENST00000373921.3 + 5 1856 c.1852G>A c.(1852-1854)Gct>Act p.A618T THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373925.1_Missense_Mutation_p.R260H|THEMIS2_ENST00000373927.3_Missense_Mutation_p.R123H|THEMIS2_ENST00000328928.7_Missense_Mutation_p.A489T NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 CCACAGGCCCGCTAAGCCCCA 0.592000 7 26 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13708257 13708257 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:13708257G>T ENST00000265104.4 - 76 13417 c.13313C>A c.(13312-13314)gCt>gAt p.A4438D NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4438 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGGGATTCTAGCATCAAACAT 0.443000 Kartagener syndrome 60 148 8.72158e-25 9.97567e-25 1 1 0 KIAA1432 57589 broad.mit.edu 37 9 5762633 5762633 + Silent SNP C C T rs139982016 by1000genomes TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr9:5762633C>T ENST00000414202.2 + 18 2276 c.2085C>T c.(2083-2085)gaC>gaT p.D695D KIAA1432_ENST00000449720.2_Silent_p.D579D|KIAA1432_ENST00000418622.3_Silent_p.D616D|KIAA1432_ENST00000251879.6_Silent_p.D695D|KIAA1432_ENST00000381532.2_Silent_p.D616D NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 695 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GGGAGAAGGACAGTAACCCTA 0.433000 8 47 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64388278 64388278 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:64388278C>T ENST00000476120.1 + 4 643 c.572C>T c.(571-573)tCa>tTa p.S191L ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.S126L NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) CATAAATTCTCAAATTCAAAT 0.308000 15 43 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31022592 31022592 + Nonsense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:31022592C>T ENST00000375687.4 + 13 2501 c.2077C>T c.(2077-2079)Cga>Tga p.R693* ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688* NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 693 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.R693*(7) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGATCTACAGCGAACACAACT 0.592000 """F, N, Mis""" """MDS, CMML""" 5 19 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72081809 72081809 + RNA SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:72081809T>C ENST00000438125.1 - 0 1246 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 GAACTTTCTCTGCAGTAGGTA 0.498000 5 60 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13846130 13846130 + Missense_Mutation SNP A A G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:13846130A>G ENST00000284951.5 - 16 1509 c.1435T>C c.(1435-1437)Tgg>Cgg p.W479R SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 479 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TTCTCAGCCCAGTGGCCTAGT 0.433000 17 48 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48208993 48208993 + Missense_Mutation SNP A A G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:48208993A>G ENST00000376893.3 - 7 589 c.496T>C c.(496-498)Tcc>Ccc p.S166P SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 agtggtctggaaccgaacctg 0.413000 11 40 0 0 1 0 0 SPCS1 28972 broad.mit.edu 37 3 52740832 52740832 + Nonsense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:52740832C>A ENST00000233025.7 + 3 731 c.321C>A c.(319-321)taC>taA p.Y107* SPCS1_ENST00000602728.1_Nonsense_Mutation_p.Y40*|SPCS1_ENST00000423431.1_Nonsense_Mutation_p.Y18* NM_014041.3 NP_054760.3 Q9Y6A9 SPCS1_HUMAN signal peptidase complex subunit 1 homolog (S. cerevisiae) 107 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to endoplasmic reticulum membrane|microsome|signal peptidase complex peptidase activity kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469) TCTACGGGTACGTGGCTGAAC 0.428000 47 92 6.31075e-24 7.17131e-24 1 1 0 GPR35 2859 broad.mit.edu 37 2 241570030 241570030 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr2:241570030G>T ENST00000319838.5 + 6 1603 c.661G>T c.(661-663)Gcc>Tcc p.A221S GPR35_ENST00000438013.2_Missense_Mutation_p.A252S|GPR35_ENST00000430267.1_Missense_Mutation_p.A221S|GPR35_ENST00000407714.1_Missense_Mutation_p.A221S|GPR35_ENST00000403859.1_Missense_Mutation_p.A221S NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 221 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CATGGTCTGGGCCAACCTCCT 0.682000 5 61 0.014758 0.0149286 1 1 0 PCLO 27445 broad.mit.edu 37 7 82764134 82764134 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:82764134C>T ENST00000423517.2 - 3 3069 c.2732G>A c.(2731-2733)aGt>aAt p.S911N PCLO_ENST00000333891.8_Missense_Mutation_p.S911N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 857 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCAGTAATACTTCCCAGATT 0.537000 30 101 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19554870 19554870 + Missense_Mutation SNP A A G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr17:19554870A>G ENST00000176643.6 + 2 610 c.164A>G c.(163-165)aAt>aGt p.N55S ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N55S|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N55S|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N55S|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N55S P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 55 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) AGTGAATTCAATGTGTACAGT 0.398000 54 47 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30723990 30723990 + RNA SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr21:30723990C>G ENST00000504298.1 + 0 36 NR_027655.1 AAGAAGTGTTCCATACCATTC 0.433000 14 53 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113172487 113172487 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:113172487C>T ENST00000295872.4 - 14 2227 c.1968G>A c.(1966-1968)ctG>ctA p.L656L NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 656 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 CATTTGTTCTCAGCTGCTGCC 0.428000 28 91 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1457910 1457910 + Missense_Mutation SNP C C A rs6135048 by1000genomes TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:1457910C>A ENST00000537284.1 - 5 854 c.518G>T c.(517-519)gGa>gTa p.G173V SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000381630.1_3'UTR Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 0 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTGCTCCCTTCCCATGACCAA 0.552000 4 57 0.000602214 0.000616301 1 1 0 LEPR 3953 broad.mit.edu 37 1 66102125 66102125 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:66102125G>T ENST00000349533.6 + 20 3110 c.2925G>T c.(2923-2925)gaG>gaT p.E975D LEPR_ENST00000406510.3_Missense_Mutation_p.E42D NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 975 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TAACCTATGAGGACGAAAGCC 0.418000 8 66 5.18039e-06 5.39624e-06 1 1 0 MED12 9968 broad.mit.edu 37 X 70351428 70351428 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:70351428C>A ENST00000333646.6 + 29 4275 c.4076C>A c.(4075-4077)tCt>tAt p.S1359Y MED12_ENST00000374102.1_Missense_Mutation_p.S1359Y|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.S1359Y NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1359 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ATGCGCCAGTCTTCCTTGGAG 0.552000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 18 48 2.35188e-11 2.57237e-11 1 1 0 ADCY8 114 broad.mit.edu 37 8 132051983 132051983 + Silent SNP T T G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:132051983T>G ENST00000286355.5 - 1 2689 c.597A>C c.(595-597)ctA>ctC p.L199L ADCY8_ENST00000377928.3_Silent_p.L199L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 199 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGCTCAAGTGTAGGACCAAGA 0.587000 HNSCC(32;0.087) 4 56 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927424 92927424 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:92927424C>G ENST00000373079.3 - 1 1143 c.880G>C c.(880-882)Gat>Cat p.D294H NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 294 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 CTTTTAAGATCTACACTGTCC 0.438000 25 85 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203652501 203652501 + Missense_Mutation SNP T T A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:203652501T>A ENST00000357681.5 + 2 1291 c.168T>A c.(166-168)agT>agA p.S56R ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56R|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56R|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56R|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56R NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 56 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) ATCTCTGCAGTAGACTGAAAA 0.488000 26 86 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 22 116 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70389690 70389690 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:70389690G>A ENST00000374051.3 + 7 2552 c.2230G>A c.(2230-2232)Gca>Aca p.A744T NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.A724T|NLGN3_ENST00000358741.3_Missense_Mutation_p.A764T NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 764 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GGAGGAGCTGGCAGCATTACA 0.687000 5 9 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 95055334 95055334 + Missense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr13:95055334G>C ENST00000377047.4 + 9 2146 c.1531G>C c.(1531-1533)Gag>Cag p.E511Q NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 511 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CACGGAGTTTGAGTTTGTCAC 0.567000 40 49 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706316 92706316 + Missense_Mutation SNP A A G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr15:92706316A>G ENST00000318445.6 + 10 2298 c.2084A>G c.(2083-2085)tAt>tGt p.Y695C RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Intron|SLCO3A1_ENST00000555549.1_3'UTR NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 695 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) AAGTTTATCTATAACCTGGAA 0.468000 25 67 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39036112 39036112 + Missense_Mutation SNP G G A rs147567550 TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr17:39036112G>A ENST00000167588.3 - 5 912 c.871C>T c.(871-873)Cgc>Tgc p.R291C NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 291 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TGGGAGGTGCGTCTCAGCTCC 0.443000 21 46 0 0 1 0 0 TMEM218 219854 broad.mit.edu 37 11 124971137 124971137 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr11:124971137G>T ENST00000455225.1 - 3 824 c.173C>A c.(172-174)cCg>cAg p.P58Q TMEM218_ENST00000529583.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000528724.1_Missense_Mutation_p.P84Q|TMEM218_ENST00000527271.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000526175.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000279968.4_Missense_Mutation_p.P58Q|TMEM218_ENST00000527766.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532407.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532156.1_Silent_p.P42P|TMEM218_ENST00000531909.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000529609.1_Silent_p.P42P A2RU14 TM218_HUMAN transmembrane protein 218 58 integral to membrane breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 ACCAGCTCGCGGGAAAAGCAA 0.423000 12 19 4.36969e-10 4.74966e-10 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152651578 152651578 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:152651578G>T ENST00000367255.5 - 78 14843 c.14242C>A c.(14242-14244)Cag>Aag p.Q4748K SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4748K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q4495K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4748 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGTCTGGCTGCCAAGGCTGA 0.522000 HNSCC(10;0.0054) 14 62 2.32078e-09 2.47645e-09 1 1 0 BAG5 9529 broad.mit.edu 37 14 104026912 104026912 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr14:104026912C>T ENST00000445922.2 - 2 836 c.590G>A c.(589-591)cGa>cAa p.R197Q BAG5_ENST00000337322.4_Missense_Mutation_p.R238Q|BAG5_ENST00000299204.4_Missense_Mutation_p.R197Q|RP11-894P9.2_ENST00000556332.1_RNA NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 197 BAG 3. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) CAGGACCCCTCGGGCCTTGTT 0.532000 30 71 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651422 84651422 + Missense_Mutation SNP A A T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr15:84651422A>T ENST00000286744.5 + 21 3266 c.3042A>T c.(3040-3042)gaA>gaT p.E1014D ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1014D NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1014 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CTATGAGGGAATATCCTGGGA 0.502000 25 58 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482229 482229 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:482229C>T ENST00000264938.3 - 8 1409 c.1400G>A c.(1399-1401)aGg>aAg p.R467K SLC9A3_ENST00000514375.1_Missense_Mutation_p.R458K NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 467 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GTGCTCGCTCCTCTTCACCTT 0.701000 3 18 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153332882 153332882 + Nonsense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr4:153332882G>C ENST00000281708.4 - 2 1303 c.74C>G c.(73-75)tCa>tGa p.S25* FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S25* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 25 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACCTGGCTTGAGGAAGGGTT 0.493000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 22 30 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737534 152737534 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:152737534G>A ENST00000367255.5 - 41 6639 c.6038C>T c.(6037-6039)gCt>gTt p.A2013V SYNE1_ENST00000265368.4_Missense_Mutation_p.A2013V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2050V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2013 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCTGAAGAGCTTGGCGGGT 0.388000 HNSCC(10;0.0054) 59 188 0 0 1 0 0 RS1 6247 broad.mit.edu 37 X 18662615 18662615 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:18662615C>A ENST00000379984.3 - 5 497 c.457G>T c.(457-459)Gtg>Ttg p.V153L RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 153 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) CTGTACTGCACGCTGTACTTG 0.507000 32 89 4.74835e-14 5.29275e-14 1 1 0 ZNF341 84905 broad.mit.edu 37 20 32379181 32379181 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr20:32379181C>T ENST00000375200.1 + 15 2788 c.2423C>T c.(2422-2424)gCg>gTg p.A808V RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.A801V|RP4-553F4.6_ENST00000423074.1_RNA Q9BYN7 ZN341_HUMAN zinc finger protein 341 808 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GTGGGTGGTGCGGTGGGCGCG 0.701000 4 39 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767078 77767078 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:77767078G>A ENST00000521891.2 + 10 8369 c.7921G>A c.(7921-7923)Gaa>Aaa p.E2641K ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2596K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2615K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2596K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2596 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TATTGCCCGCGAAGTCGGGCT 0.512000 HNSCC(33;0.089) 16 46 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 4 10 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59210828 59210828 + Missense_Mutation SNP T T A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr11:59210828T>A ENST00000302030.2 + 1 212 c.187T>A c.(187-189)Tac>Aac p.Y63N NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CACACCCATGTACTTCTTCCT 0.488000 36 103 0 0 1 0 0 SHC4 399694 broad.mit.edu 37 15 49255046 49255046 + Missense_Mutation SNP G G A rs142795434 TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr15:49255046G>A ENST00000332408.4 - 1 595 c.167C>T c.(166-168)cCg>cTg p.P56L NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 56 CH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GGGAGGCTGCGGCGAGCCCTT 0.667000 6 68 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36194453 36194453 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:36194453G>A ENST00000242108.4 + 2 1238 c.520G>A c.(520-522)Gtt>Att p.V174I EEPD1_ENST00000534978.1_Missense_Mutation_p.V174I NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 174 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 CTTTCGCAGCGTTGAGGACCT 0.627000 7 44 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142521123 142521123 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:142521123C>T ENST00000273482.6 + 9 1983 c.1592C>T c.(1591-1593)tCa>tTa p.S531L TRPC1_ENST00000476941.1_Missense_Mutation_p.S565L NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 565 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 GGATATACTTCAAAGGAGCAG 0.333000 14 66 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244614999 244614999 + Nonsense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:244614999C>A ENST00000366535.3 - 1 437 c.121G>T c.(121-123)Gaa>Taa p.E41* NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 41 IMP binding (By similarity). AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding p.E41K(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CCTTTGCCTTCGTCGCCCCAC 0.736000 7 13 0.0293803 0.0295492 1 1 0 IGHV1-69 28461 broad.mit.edu 37 14 107170006 107170006 + RNA SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr14:107170006G>T ENST00000390633.2 - 0 336 TCGTGGATTTGTCCGCGGTAA 0.542000 58 277 4.17463e-26 4.80632e-26 1 1 0 ANKRD17 26057 broad.mit.edu 37 4 74010532 74010532 + Silent SNP A A C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr4:74010532A>C ENST00000358602.4 - 11 2003 c.1887T>G c.(1885-1887)ggT>ggG p.G629G ANKRD17_ENST00000330838.6_Silent_p.G629G|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G516G NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 629 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAGTTCTTCCACCTTCAGATT 0.303000 6 16 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8485931 8485931 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr9:8485931G>A ENST00000381196.4 - 25 3429 c.2886C>T c.(2884-2886)aaC>aaT p.N962N PTPRD_ENST00000540109.1_Silent_p.N962N|PTPRD_ENST00000360074.4_Silent_p.N949N|PTPRD_ENST00000358503.5_Silent_p.N940N|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.N962N|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 962 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.N962N(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAAGGGGGATGTTGATATCCC 0.468000 TSP Lung(15;0.13) 9 104 0 0 1 0 0 TMEM60 85025 broad.mit.edu 37 7 77423688 77423688 + Translation_Start_Site SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:77423688C>T ENST00000257663.3 - 2 379 c.3G>A c.(1-3)atG>atA p.M1I NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 1 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 AGGACATTCTCATTTAAACAG 0.388000 13 36 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107666 14107666 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:14107666G>T ENST00000235372.7 + 8 4232 c.3376G>T c.(3376-3378)Gtt>Ttt p.V1126F PRDM2_ENST00000343137.4_Missense_Mutation_p.V925F|PRDM2_ENST00000311066.5_Missense_Mutation_p.V1126F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.V925F NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1126 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GGATGTTGTTGTTCAGGAAAC 0.403000 24 82 1.22574e-08 1.29219e-08 1 1 0 USP34 9736 broad.mit.edu 37 2 61597522 61597522 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr2:61597522C>T ENST00000398571.2 - 10 1261 c.1185G>A c.(1183-1185)ttG>ttA p.L395L NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 395 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCAAAAAATTCAAAATCACTT 0.328000 25 91 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102498 22102498 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr14:22102498C>T ENST00000542433.1 - 1 598 c.501G>A c.(499-501)ttG>ttA p.L167L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GGCGGAAGGTCAAGGTGGCCT 0.562000 37 67 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55795041 55795041 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:55795041G>A ENST00000379665.2 + 1 828 c.729G>A c.(727-729)atG>atA p.M243I NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 CCTCCCATATGATTGTGGTTT 0.398000 30 88 0 0 1 0 0 GULP1 51454 broad.mit.edu 37 2 189387546 189387546 + Nonsense_Mutation SNP A A T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr2:189387546A>T ENST00000409580.1 + 6 868 c.154A>T c.(154-156)Aaa>Taa p.K52* GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Nonsense_Mutation_p.K52*|GULP1_ENST00000409637.3_Nonsense_Mutation_p.K52*|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000410051.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409609.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409843.1_Nonsense_Mutation_p.K52* Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 52 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TGCTGTAAGGAAACTAAAGGT 0.403000 20 57 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150311004 150311004 + RNA SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:150311004C>G ENST00000520773.1 - 0 2317 AGTATGTATTCTCTGATGTAT 0.423000 11 17 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70282397 70282397 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr11:70282397C>T ENST00000376561.3 + 19 1959 c.1788C>T c.(1786-1788)atC>atT p.I596I CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR NM_001184740.1 NP_001171669.1 Q14247 SRC8_HUMAN cortactin 0 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGAAACTCATCTCCTTCCTGA 0.582000 271 54 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218520231 218520231 + Missense_Mutation SNP T T G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:218520231T>G ENST00000366929.4 + 1 655 c.188T>G c.(187-189)gTc>gGc p.V63G TGFB2_ENST00000366930.4_Missense_Mutation_p.V63G NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 63 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CCCGAGGAAGTCCCCCCGGAG 0.632000 24 51 0 0 1 0 0 MIR515-2 574465 broad.mit.edu 37 19 54188333 54188333 + RNA SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:54188333T>C ENST00000384883.1 + 0 71 NR_030184.1|NR_030187.1 TTTTGGAGCGTTACTGTTTGA 0.423000 14 31 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53230783 53230783 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:53230783C>A ENST00000452825.3 - 12 2341 c.1809G>T c.(1807-1809)atG>atT p.M603I KDM5C_ENST00000375379.3_Missense_Mutation_p.M670I|KDM5C_ENST00000375383.3_Missense_Mutation_p.M629I|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Missense_Mutation_p.M670I|KDM5C_ENST00000404049.3_Missense_Mutation_p.M669I NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 670 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CCATGATGAACATCTCCTTAT 0.557000 """N, F, S""" clear cell renal carcinoma 23 59 7.33628e-21 8.28289e-21 1 1 0 ZNF20 7568 broad.mit.edu 37 19 12243777 12243777 + Silent SNP A A C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:12243777A>C ENST00000334213.5 - 4 1448 c.1224T>G c.(1222-1224)tcT>tcG p.S408S ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron NM_001203250.1|NM_021143.3 NP_001190179.1|NP_066966.2 P17024 ZNF20_HUMAN zinc finger protein 20 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 TACGCAAGGAAGAAAAATACT 0.403000 8 59 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57620826 57620826 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:57620826C>T ENST00000374888.1 + 1 2558 c.2345C>T c.(2344-2346)gCa>gTa p.A782V NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 782 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCCAATGCAGCAGGAAACCAT 0.453000 30 116 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32519946 32519946 + Missense_Mutation SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:32519946T>C ENST00000357033.4 - 19 2512 c.2306A>G c.(2305-2307)gAa>gGa p.E769G DMD_ENST00000378677.2_Missense_Mutation_p.E765G NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 769 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCAGCTTTTTCTCGCTCTAT 0.418000 8 18 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5622657 5622657 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:5622657C>T ENST00000252542.4 - 1 334 c.70G>A c.(70-72)Gag>Aag p.E24K NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) GTCCCAGTCTCCGCAACGCCC 0.692000 3 6 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53015266 53015266 + Silent SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:53015266T>C ENST00000421239.2 + 6 1876 c.1632T>C c.(1630-1632)tgT>tgC p.C544C CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GTAAGGTTTGTGACAAGGCTT 0.393000 27 71 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49803038 49803038 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr6:49803038C>T ENST00000335847.4 - 8 842 c.741G>A c.(739-741)gaG>gaA p.E247E CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.E247E|CRISP1_ENST00000505118.1_Silent_p.E247E|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000507853.1_3'UTR NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 247 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) CCTATTTTATCTCAGTGTCAC 0.393000 32 127 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196879474 196879474 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:196879474G>A ENST00000367416.2 + 6 997 c.860G>A c.(859-861)aGa>aAa p.R287K CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AATACGCGTAGACCATACTTT 0.343000 10 57 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54963106 54963106 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:54963106C>A ENST00000243052.3 + 4 802 c.366C>A c.(364-366)ttC>ttA p.F122L PDE1B_ENST00000550620.1_Missense_Mutation_p.F102L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.F81L NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 122 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 AGCCCAAGTTCCGAAGCATTG 0.647000 12 32 0.00010058 0.000104151 1 1 0 ZNF783 100289678 broad.mit.edu 37 7 148963814 148963814 + Missense_Mutation SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:148963814C>A ENST00000434415.1 + 2 576 c.413C>A c.(412-414)gCc>gAc p.A138D NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 138 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AAGGGGGAGGCCCCCAAGGTA 0.652000 13 126 2.68362e-12 2.97236e-12 1 1 0 POLR2E 5434 broad.mit.edu 37 19 1091820 1091820 + Nonsense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:1091820G>A ENST00000215587.7 - 3 602 c.319C>T c.(319-321)Cag>Tag p.Q107* POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Nonsense_Mutation_p.Q107* P19388 RPAB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide E, 25kDa 107 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2) 11 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGCCCTGCTGCACCACGATG 0.652000 11 40 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198719713 198719713 + Silent SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:198719713C>G ENST00000367376.2 + 29 3330 c.3159C>G c.(3157-3159)gtC>gtG p.V1053V PTPRC_ENST00000442510.2_Silent_p.V1055V|PTPRC_ENST00000594404.1_Silent_p.V892V|PTPRC_ENST00000352140.3_Silent_p.V1005V|PTPRC_ENST00000348564.6_Silent_p.V894V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1053 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AAAGAAAAGTCAAAGTTATTG 0.398000 22 114 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105664841 105664841 + Nonsense_Mutation SNP T T A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:105664841T>A ENST00000542731.1 + 15 2199 c.2091T>A c.(2089-2091)taT>taA p.Y697* CDHR3_ENST00000317716.9_Nonsense_Mutation_p.Y697*|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_Missense_Mutation_p.S200T|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.Y609* Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 697 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GGGTCACCTATCAGGTCCTGA 0.498000 4 20 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 72 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15637898 15637898 + Missense_Mutation SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:15637898T>C ENST00000321169.5 - 3 587 c.220A>G c.(220-222)Aca>Gca p.T74A HACL1_ENST00000456194.2_Missense_Mutation_p.T74A|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.T74A|HACL1_ENST00000457447.2_Missense_Mutation_p.T74A NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 74 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TACCTGCTTGTCAGATATCCA 0.373000 12 17 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34517452 34517452 + Missense_Mutation SNP G G A rs150107677 TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr9:34517452G>A ENST00000242317.4 + 19 2159 c.1988G>A c.(1987-1989)cGc>cAc p.R663H NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 663 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CCCAATTTGCGCAAGATGCCA 0.552000 Kartagener syndrome 5 43 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381677 102381677 + RNA SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:102381677G>T ENST00000419462.1 + 0 1089 NR_002182.1 TAAGGATATAGAATTGGTCCT 0.408000 31 48 3.99451e-17 4.48102e-17 1 1 0 SCN3A 6328 broad.mit.edu 37 2 166003509 166003509 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr2:166003509C>G ENST00000360093.3 - 12 1902 c.1411G>C c.(1411-1413)Gat>Cat p.D471H SCN3A_ENST00000409101.3_Missense_Mutation_p.D471H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D471H NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 471 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCACTGAAATCTCTTGAAGCA 0.418000 16 51 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606242 13606242 + Missense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr4:13606242G>C ENST00000040738.5 - 10 2417 c.2282C>G c.(2281-2283)tCt>tGt p.S761C NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 761 Lys-rich. DNA binding TTTCTCAGAAGAGTGAAGCTC 0.343000 3 28 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155408358 155408358 + Nonsense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:155408358G>C ENST00000368346.3 - 5 6227 c.5588C>G c.(5587-5589)tCa>tGa p.S1863* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1863* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1863 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGCTTGCATTGATACGACAGC 0.488000 26 130 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72366470 72366470 + Silent SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:72366470C>G ENST00000333850.3 + 6 921 c.780C>G c.(778-780)ctC>ctG p.L260L NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 260 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity p.L260L(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TGCCTCAACTCGAAGATGTCT 0.438000 58 185 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52281983 52281983 + Splice_Site SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:52281983C>T ENST00000354831.7 - 13 1833 c.e13+1 NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 TGAATACTTGCTTTTTCCTAA 0.323000 14 55 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121009002 121009002 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr12:121009002C>T ENST00000325954.4 + 14 2511 c.2050C>T c.(2050-2052)Ctg>Ttg p.L684L RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Silent_p.L689L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 684 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGACTTTCTGCTGACCCCTCT 0.527000 18 49 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057035 180057035 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:180057035G>A ENST00000261937.6 - 5 662 c.584C>T c.(583-585)aCg>aTg p.T195M FLT4_ENST00000393347.3_Missense_Mutation_p.T195M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.T195M NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 195 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CAGCAGTGGCGTGGACACGAG 0.627000 31 31 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142133018 142133018 + Missense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:142133018G>C ENST00000264951.4 - 14 1669 c.1552C>G c.(1552-1554)Ctt>Gtt p.L518V XRN1_ENST00000392981.2_Missense_Mutation_p.L518V NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 518 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 GCTGCTGGAAGTACAGCAAGA 0.378000 21 110 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151878682 151878682 + Missense_Mutation SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:151878682T>C ENST00000355193.2 - 36 6481 c.6263A>G c.(6262-6264)aAt>aGt p.N2088S KMT2C_ENST00000262189.6_Missense_Mutation_p.N2088S lysine (K)-specific methyltransferase 2C ATTTGACTGATTATGAGAAAA 0.453000 12 46 0 0 1 0 0 PQLC1 80148 broad.mit.edu 37 18 77679290 77679290 + Missense_Mutation SNP C C T rs114579767 by1000genomes TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr18:77679290C>T ENST00000397778.2 - 5 684 c.502G>A c.(502-504)Gcc>Acc p.A168T PQLC1_ENST00000409073.1_Missense_Mutation_p.A85T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A150T|PQLC1_ENST00000590381.1_Intron NM_025078.4 NP_079354.2 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 168 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 9 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) ACAAACAGGGCGGAGTCAATG 0.637000 4 42 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145001012 145001012 + Silent SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr8:145001012T>C ENST00000322810.4 - 30 4564 c.4395A>G c.(4393-4395)acA>acG p.T1465T PLEC_ENST00000354958.2_Silent_p.T1306T|PLEC_ENST00000356346.3_Silent_p.T1314T|PLEC_ENST00000357649.2_Silent_p.T1332T|PLEC_ENST00000398774.2_Silent_p.T1296T|PLEC_ENST00000345136.3_Silent_p.T1328T|PLEC_ENST00000527096.1_Silent_p.T1351T|PLEC_ENST00000354589.3_Silent_p.T1328T|PLEC_ENST00000436759.2_Silent_p.T1355T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1465 Globular 1. 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 GGCTCGTCAGTGTGGTCAGCT 0.627000 6 61 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36342482 36342482 + Silent SNP G G A rs114385015 byFrequency TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:36342482G>A ENST00000378910.5 - 2 150 c.151C>T c.(151-153)Ctg>Ttg p.L51L NPHS1_ENST00000353632.6_Silent_p.L51L NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 51 Ig-like C2-type 1. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCACAACGCAGCTCCACTGAG 0.682000 5 30 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8436642 8436642 + Missense_Mutation SNP T T G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr9:8436642T>G ENST00000381196.4 - 32 4579 c.4036A>C c.(4036-4038)Att>Ctt p.I1346L PTPRD_ENST00000540109.1_Missense_Mutation_p.I1346L|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1333L|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1324L|PTPRD_ENST00000486161.1_Missense_Mutation_p.I939L|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1346L|PTPRD_ENST00000355233.5_Missense_Mutation_p.I940L|PTPRD_ENST00000397606.3_Missense_Mutation_p.I939L|PTPRD_ENST00000397611.3_Missense_Mutation_p.I936L|PTPRD_ENST00000397617.3_Missense_Mutation_p.I939L|PTPRD_ENST00000537002.1_Missense_Mutation_p.I936L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1346 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATCTTTCAATGTGGTCTGCA 0.348000 TSP Lung(15;0.13) 4 55 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42600296 42600296 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:42600296C>T ENST00000389341.5 - 8 619 c.553G>A c.(553-555)Gag>Aag p.E185K POU2F2_ENST00000529067.1_Missense_Mutation_p.E185K|POU2F2_ENST00000526816.2_Missense_Mutation_p.E201K|POU2F2_ENST00000342301.4_Missense_Mutation_p.E201K|POU2F2_ENST00000560558.1_Missense_Mutation_p.E146K|POU2F2_ENST00000560398.1_Missense_Mutation_p.E207K|POU2F2_ENST00000533720.1_Missense_Mutation_p.E185K|POU2F2_ENST00000529952.1_Missense_Mutation_p.E201K NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 201 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) TCCAGCTCCTCCAGATCACTG 0.687000 10 16 0 0 1 0 0 RAVER2 55225 broad.mit.edu 37 1 65270776 65270776 + Missense_Mutation SNP G G C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:65270776G>C ENST00000294428.3 + 8 1477 c.1399G>C c.(1399-1401)Gaa>Caa p.E467Q RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.E454Q Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 467 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TCATCATGGAGAAGCACATAA 0.403000 8 33 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25074496 25074496 + Missense_Mutation SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr13:25074496G>A ENST00000381989.3 - 4 464 c.359C>T c.(358-360)cCg>cTg p.P120L NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 120 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GGCACTGTCCGGGCATAGACC 0.393000 15 34 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1395034 1395034 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr16:1395034C>T ENST00000324385.5 + 21 2137 c.1979C>T c.(1978-1980)tCg>tTg p.S660L BAIAP3_ENST00000568887.1_Missense_Mutation_p.S597L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S602L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S625L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S642L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S642L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S589L NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 660 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GAGGTGGCCTCGGGGCTCTTT 0.647000 20 46 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17450176 17450176 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr11:17450176C>T ENST00000302539.4 - 13 1984 c.1859G>A c.(1858-1860)cGt>cAt p.R620H ABCC8_ENST00000389817.3_Missense_Mutation_p.R620H NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 620 R -> C (in HHF1; dbSNP:rs58241708). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTGCTCCTCACGGATCTCTGC 0.652000 13 29 0 0 1 0 0 TMEM60 85025 broad.mit.edu 37 7 77423609 77423609 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr7:77423609C>G ENST00000257663.3 - 2 458 c.82G>C c.(82-84)Gat>Cat p.D28H NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 28 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GCTTTCTCATCCAGTTTCAAC 0.428000 15 36 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43524048 43524048 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr21:43524048C>G ENST00000400427.1 + 9 1550 c.1154C>G c.(1153-1155)tCt>tGt p.S385C UMODL1_ENST00000408910.2_Missense_Mutation_p.S457C|UMODL1_ENST00000408989.2_Missense_Mutation_p.S457C|C21orf128_ENST00000329015.2_Missense_Mutation_p.R62T|UMODL1_ENST00000400424.1_Missense_Mutation_p.S385C NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 457 Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CAGATCGTGTCTCTCCAGGCG 0.602000 26 95 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76592387 76592387 + Splice_Site SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr16:76592387G>A ENST00000307431.8 + 25 4116 c.3730_splice c.e25-1 p.G1244_splice CNTNAP4_ENST00000377504.4_Splice_Site_p.G1196_splice|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Splice_Site_p.G1172_splice|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000476707.1_Splice_Site_p.G1248_splice NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1245 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTCTCTCTAGGTCTGATAGCT 0.343000 12 29 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56657518 56657518 + Silent SNP T T C TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:56657518T>C ENST00000431842.2 - 17 4173 c.3249A>G c.(3247-3249)gtA>gtG p.V1083V FAM208A_ENST00000355628.5_Silent_p.V1459V|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000485156.1_5'UTR NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1520 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 AATTGCTGCATACTTCTATAT 0.358000 20 49 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269102 1269102 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr11:1269102C>G ENST00000447027.1 + 31 11059 c.11001C>G c.(10999-11001)ttC>ttG p.F3667L RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.F3664L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3664 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCGTGTGTTCTGCTGCAACT 0.602000 22 72 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151417 247151417 + Missense_Mutation SNP A A T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:247151417A>T ENST00000339986.7 - 4 547 c.400T>A c.(400-402)Tgg>Agg p.W134R ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 134 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGCCCTTTCCACTCACCCACA 0.388000 63 243 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96245440 96245440 + Nonsense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:96245440C>T ENST00000437043.3 + 15 3037 c.2326C>T c.(2326-2328)Cag>Tag p.Q776* CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q731* NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 776 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) ACTCTTCTCCCAGTGGATGGA 0.473000 10 37 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304912 53304912 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr19:53304912C>G ENST00000594602.1 - 5 405 c.304G>C c.(304-306)Gca>Cca p.A102P ZNF28_ENST00000438150.2_Silent_p.G9G|ZNF28_ENST00000414252.2_Silent_p.G9G|ZNF28_ENST00000339844.6_Splice_Site_p.A52_splice|ZNF28_ENST00000457749.2_Silent_p.G62G|ZNF28_ENST00000360272.4_Silent_p.G9G P17035 ZNF28_HUMAN zinc finger protein 28 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TATTGCCTTGCCCTGTTGAGA 0.378000 45 163 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25861686 25861686 + Silent SNP C C A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr10:25861686C>A ENST00000376351.3 + 7 1982 c.1623C>A c.(1621-1623)ctC>ctA p.L541L NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 541 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTTGGTTTCTCATTGGCTGGA 0.453000 12 49 2.27111e-07 2.37991e-07 1 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140794641 140794641 + Silent SNP G G A TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:140794641G>A ENST00000398610.2 + 1 1899 c.1899G>A c.(1897-1899)gcG>gcA p.A633A PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCACGGCGCGAGCCCTGC 0.697000 8 81 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348270 7348270 + Missense_Mutation SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:7348270C>G ENST00000486284.1 + 4 1238 c.964C>G c.(964-966)Cca>Gca p.P322A GRM7_ENST00000402647.2_Missense_Mutation_p.P322A|GRM7_ENST00000403881.1_Missense_Mutation_p.P322A|GRM7_ENST00000357716.4_Missense_Mutation_p.P322A|GRM7_ENST00000389336.4_Missense_Mutation_p.P322A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 322 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) CAAAATAAACCCACTGCACCA 0.507000 19 51 0 0 1 0 0 NAA60 79903 broad.mit.edu 37 16 3526325 3526325 + Missense_Mutation SNP G G T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr16:3526325G>T ENST00000407558.4 + 3 401 c.98G>T c.(97-99)tGg>tTg p.W33L NAA60_ENST00000577013.1_Missense_Mutation_p.W33L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.W33L|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Missense_Mutation_p.W33L|NAA60_ENST00000570819.1_Missense_Mutation_p.W33L|NAA60_ENST00000570551.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000421765.3_Missense_Mutation_p.W33L|NAA60_ENST00000414063.2_Missense_Mutation_p.W33L|NAA60_ENST00000575076.1_Missense_Mutation_p.W33L|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000572942.1_Missense_Mutation_p.W33L|NAA60_ENST00000573580.1_Intron NM_001083601.1 NP_001077070.1 Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 33 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 TGTGGCGACTGGTTCCCCATC 0.642000 6 16 0.00116845 0.00118883 1 1 0 FAM131A 131408 broad.mit.edu 37 3 184060002 184060002 + Silent SNP C C G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:184060002C>G ENST00000310585.4 + 1 1745 c.381C>G c.(379-381)ctC>ctG p.L127L FAM131A_ENST00000340957.5_Silent_p.L73L|FAM131A_ENST00000418281.1_Silent_p.L35L|FAM131A_ENST00000383847.2_Silent_p.L158L|FAM131A_ENST00000450976.1_Silent_p.L73L|FAM131A_ENST00000453072.1_Silent_p.L73L|EIF2B5_ENST00000444495.1_Intron Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 127 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATTCAGACCTCAGCGAGGGCG 0.542000 20 97 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98209410 98209410 + Missense_Mutation SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr5:98209410C>T ENST00000284049.3 - 25 3607 c.3458G>A c.(3457-3459)cGa>cAa p.R1153Q NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1153 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CTCAGCATCTCGAGCAATTGC 0.338000 13 38 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155307999 155308000 + Frame_Shift_Ins INS - - T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr1:155307999_155308000insT ENST00000368346.3 - 27 9337_9338 c.8698_8699insA c.(8698-8700)agafs p.R2900fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2900 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.T2895fs*44(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACTTTCCTCTGTTTTTTTTTCA 0.520 8 132 --- --- --- --- MYRIP 25924 broad.mit.edu 37 3 40231499 40231500 + Frame_Shift_Ins INS - - G TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr3:40231499_40231500insG ENST00000302541.6 + 10 1552_1553 c.1210_1211insG c.(1210-1212)tgafs p.*404fs MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Frame_Shift_Ins_p.*404fs|MYRIP_ENST00000444716.1_Frame_Shift_Ins_p.*404fs|MYRIP_ENST00000539167.1_Frame_Shift_Ins_p.*217fs|MYRIP_ENST00000396217.3_Frame_Shift_Ins_p.*315fs NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 404 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CTTTGACTGGAGTGAGGCCTTG 0.624 27 41 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 7 46 --- --- --- --- GDPD3 79153 broad.mit.edu 37 16 30124660 30124662 + Splice_Site DEL CCT CCT - TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr16:30124660_30124662delCCT ENST00000406256.3 - 1 515_517 c.139_splice c.e1+1 p.GG46_splice NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 46 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 ACCCGGCTCACCTCCTCGGTGGG 0.640 11 330 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577048 7577048 + Frame_Shift_Del DEL T T - TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr17:7577048delT ENST00000420246.2 - 8 1022 c.890delA c.(889-891)ccfs p.H297fs TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 297 Interaction with HIPK1 (By similarity). H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.0?(8)|p.?(2)|p.L265_K305del41(1)|p.H297P(1)|p.G293fs*1(1)|p.H297fs*48(1)|p.H296_S303delHHELPPGS(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) GGGCAGCTCGTGGTGAGGCTC 0.567 111 """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) 28 33 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 7 96 --- --- --- --- ADORA2A 135 broad.mit.edu 37 22 24829669 24829680 + In_Frame_Del DEL CATTGACCGCTA CATTGACCGCTA - TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chr22:24829669_24829680delCATTGACCGCTA ENST00000337539.7 + 2 756_767 c.297_308delCATTGACCGCTA c.(295-309)gcc>gc p.AIDRY99del ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 99 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) TGGCCATCGCCATTGACCGCTACATTGCCATC 0.627 14 59 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144905535 144905535 + Frame_Shift_Del DEL G G - TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8a2708-1703-4c31-acbd-004ea132ded7 19c1570e-5804-473b-9f8d-e973e802a0fd g.chrX:144905535delG ENST00000370490.1 + 1 5847 c.1592delG c.(1591-1593)tgfs p.W531fs SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.W531fs Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 531 LRRCT 2. integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GAGAACCCCTGGGACTGTACC 0.498 22 81 --- --- --- ---