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 EIF2AK4 440275 broad.mit.edu 37 15 40241413 40241413 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr15:40241413C>T ENST00000263791.5 + 4 500 c.457C>T c.(457-459)Cgg>Tgg p.R153W EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R153W|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R153W NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 153 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GCTGGAAAGGCGGGCTCAGGA 0.537000 47 73 0 0 0.870114 0 0 LEKR1 389170 broad.mit.edu 37 3 156763496 156763496 + Missense_Mutation SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr3:156763496A>G ENST00000470811.1 + 14 2459 c.1124A>G c.(1123-1125)cAg>cGg p.Q375R LEKR1_ENST00000356539.4_Missense_Mutation_p.Q679R D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 0 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GAGACTAGACAGAGACTGGCT 0.547000 30 53 0 0 0.740014 0 0 KLHL14 57565 broad.mit.edu 37 18 30349844 30349844 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr18:30349844C>T ENST00000359358.4 - 2 1149 c.711G>A c.(709-711)gcG>gcA p.A237A AC012123.1_ENST00000426194.1_Silent_p.S24S|KLHL14_ENST00000358095.4_Silent_p.A237A NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 237 BACK. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TCTGGAAGAGCGCCAGCTCCG 0.657000 10 28 0 0 0.335167 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 30 0 0 0.248553 0 0 EEF2 1938 broad.mit.edu 37 19 3977234 3977234 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr19:3977234G>A ENST00000309311.6 - 14 2450 c.2362C>T c.(2362-2364)Ctg>Ttg p.L788L NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 788 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TTGACGGGCAGATAGGCCTTG 0.617000 5 10 0 0 0.184627 0 0 ETV6 2120 broad.mit.edu 37 12 12022865 12022865 + Missense_Mutation SNP C C A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:12022865C>A ENST00000396373.4 + 5 1245 c.971C>A c.(970-972)cCg>cAg p.P324Q NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 324 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TCTGTCTCCCCGCCTGAAGAG 0.587000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 3 94 0.150653 0.155789 0.150653 1 0 HECTD4 283450 broad.mit.edu 37 12 112617095 112617095 + Silent SNP G G C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:112617095G>C ENST00000550722.1 - 63 11051 c.10656C>G c.(10654-10656)gtC>gtG p.V3552V HECTD4_ENST00000430131.2_Silent_p.V3276V|HECTD4_ENST00000377560.5_Silent_p.V3526V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AAATGTCAGAGACTCTGATGG 0.542000 6 13 0 0 0.217242 0 0 LMTK2 22853 broad.mit.edu 37 7 97823142 97823142 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:97823142G>A ENST00000297293.5 + 11 3658 c.3365G>A c.(3364-3366)gGa>gAa p.G1122E NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1122 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAGGTCCCGGGAACCTCCCCA 0.607000 28 37 0 0 0.706142 0 0 TMEM9 252839 broad.mit.edu 37 1 201112999 201112999 + Missense_Mutation SNP G G C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:201112999G>C ENST00000367330.1 - 4 864 c.348C>G c.(346-348)atC>atG p.I116M TMEM9_ENST00000472411.1_5'UTR|TMEM9_ENST00000367334.5_Missense_Mutation_p.I116M|TMEM9_ENST00000367333.1_Missense_Mutation_p.I119M|TMEM9_ENST00000367332.1_Missense_Mutation_p.I119M|TMEM9_ENST00000367329.1_Missense_Mutation_p.I116M Q9P0T7 TMEM9_HUMAN transmembrane protein 9 116 transport integral to membrane|late endosome membrane|lysosomal membrane liver(1)|lung(1)|stomach(1) 3 Breast(1374;0.000301) CCGGCTTTCGGATCAGAGGGT 0.572000 4 42 0 0 0.184627 0 0 GFM2 84340 broad.mit.edu 37 5 74034187 74034187 + Missense_Mutation SNP A A C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr5:74034187A>C ENST00000296805.3 - 14 1733 c.1276T>G c.(1276-1278)Tca>Gca p.S426A GFM2_ENST00000509430.1_Missense_Mutation_p.S426A|GFM2_ENST00000345239.2_Missense_Mutation_p.S379A|GFM2_ENST00000427854.2_Missense_Mutation_p.S426A NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 426 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GCAGTCAATGAAGGGATTTCT 0.333000 74 74 0 0 0.870114 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717481 222717481 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:222717481C>T ENST00000343410.6 - 2 430 c.372G>A c.(370-372)acG>acA p.T124T NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 124 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TCCGGAGAGGCGTCTGGGTGT 0.597000 34 140 0 0 0.804634 0 0 PCDHAC1 0 broad.mit.edu 37 5 140308171 140308171 + Missense_Mutation SNP T T C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr5:140308171T>C ENST00000253807.2 + 1 1694 c.1694T>C c.(1693-1695)gTc>gCc p.V565A PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V565A|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGGTTCTGTCCCAGTGGAA 0.473000 7 97 0 0 0.278610 0 0 ZNF814 730051 broad.mit.edu 37 19 58385268 58385268 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr19:58385268C>T ENST00000435989.2 - 3 1724 c.1490G>A c.(1489-1491)tGt>tAt p.C497Y ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 497 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AGATTTCCCACATTCTCCACA 0.448000 4 27 0 0 0.150653 0 0 BUB1B 701 broad.mit.edu 37 15 40509802 40509802 + Silent SNP C C T rs139066741 by1000genomes TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr15:40509802C>T ENST00000287598.6 + 21 2979 c.2784C>T c.(2782-2784)agC>agT p.S928S PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR|RP11-133K1.2_ENST00000558658.1_Silent_p.S5S|BUB1B_ENST00000412359.3_Silent_p.S942S NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 928 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTACCCTCAGCGGCTTTCGGA 0.443000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 92 260 0 0 0.870114 0 0 FOSB 2354 broad.mit.edu 37 19 45974181 45974181 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr19:45974181C>T ENST00000353609.3 + 2 1013 c.421C>T c.(421-423)Cgg>Tgg p.R141W FOSB_ENST00000585836.1_Missense_Mutation_p.R102W|FOSB_ENST00000592436.1_Missense_Mutation_p.R141W|FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.R102W|FOSB_ENST00000586615.1_Missense_Mutation_p.R92W|FOSB_ENST00000592811.1_Missense_Mutation_p.R92W|FOSB_ENST00000417353.2_Missense_Mutation_p.R141W|FOSB_ENST00000590335.1_Missense_Mutation_p.R141W NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 141 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) AGCCCGAGCCCGGCCTAGGAG 0.632000 14 26 0 0 0.520397 0 0 NLRP1 22861 broad.mit.edu 37 17 5437261 5437261 + Missense_Mutation SNP A A T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:5437261A>T ENST00000345221.3 - 9 3562 c.3008T>A c.(3007-3009)aTg>aAg p.M1003K NLRP1_ENST00000269280.4_Missense_Mutation_p.M1003K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.M1003K|NLRP1_ENST00000262467.5_Missense_Mutation_p.M1003K|NLRP1_ENST00000577119.1_Missense_Mutation_p.M973K|NLRP1_ENST00000354411.3_Missense_Mutation_p.M973K NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1003 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTATTACTCATCTCTCCCGT 0.537000 7 325 0 0 0.278610 0 0 ATRX 546 broad.mit.edu 37 X 76764102 76764102 + Silent SNP G G T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:76764102G>T ENST00000373344.5 - 35 7420 c.7206C>A c.(7204-7206)atC>atA p.I2402I ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.I2364I NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2402 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GAACACAGCTGATTAACTATA 0.403000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 183 0.0381472 0.0399011 0.278610 1 0 VPS13B 157680 broad.mit.edu 37 8 100396486 100396486 + Missense_Mutation SNP A A C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr8:100396486A>C ENST00000395996.1 + 20 2986 c.2875A>C c.(2875-2877)Atc>Ctc p.I959L VPS13B_ENST00000358544.2_Missense_Mutation_p.I959L|VPS13B_ENST00000357162.2_Missense_Mutation_p.I959L Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 959 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TATTGACCCAATCTTATATAC 0.308000 4 86 0 0 0.150653 0 0 HCG17 0 broad.mit.edu 37 6 30228186 30228186 + RNA SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr6:30228186C>T ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA ATGAACAGTTCGCCTACGATG 0.642000 4 38 0 0 0.150653 0 0 MST1L 0 broad.mit.edu 37 1 17085078 17085078 + RNA SNP T T C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:17085078T>C ENST00000455405.2 - 0 110 AAACTGCACCTGGTCTGTAGG 0.612000 4 31 0 0 0.361761 0 0 HDAC5 10014 broad.mit.edu 37 17 42169818 42169818 + Missense_Mutation SNP G G A rs138137922 TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:42169818G>A ENST00000225983.6 - 8 1176 c.853C>T c.(853-855)Cgc>Tgc p.R285C HDAC5_ENST00000586802.1_Missense_Mutation_p.R284C|HDAC5_ENST00000393622.2_Missense_Mutation_p.R284C|HDAC5_ENST00000336057.5_Missense_Mutation_p.R284C Q9UQL6 HDAC5_HUMAN histone deacetylase 5 284 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding p.R284S(1) central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CCATCCTTGCGACGCAGGAGG 0.537000 9 12 0 0 0.335167 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744754 135744754 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr2:135744754G>A ENST00000375845.3 - 7 1718 c.1688C>T c.(1687-1689)aCc>aTc p.T563I MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T450I|MAP3K19_ENST00000392915.1_Missense_Mutation_p.T580I NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TTTATGCATGGTAGGCTTAAT 0.423000 16 97 0 0 0.479597 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118890880 118890880 + Missense_Mutation SNP A A C rs78676902 TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr11:118890880A>C ENST00000533632.1 + 3 735 c.371A>C c.(370-372)cAg>cCg p.Q124P TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Q124P|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Q81P|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Q124P NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 124 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) ATCGGCTCCCAGCTGTCTCCT 0.498000 6 59 0 0 0.335167 0 0 ANK2 287 broad.mit.edu 37 4 114280346 114280346 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr4:114280346C>T ENST00000357077.4 + 38 10625 c.10572C>T c.(10570-10572)acC>acT p.T3524T ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3491 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGTTGAGACCGAGCACTCAG 0.473000 16 66 0 0 0.500413 0 0 PCLO 27445 broad.mit.edu 37 7 82579784 82579784 + Missense_Mutation SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:82579784A>G ENST00000423517.2 - 6 10457 c.10120T>C c.(10120-10122)Tac>Cac p.Y3374H PCLO_ENST00000333891.8_Missense_Mutation_p.Y3374H|PCLO_ENST00000437081.1_Missense_Mutation_p.Y94H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3305 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 TGAACGGTGTACCATCCTTGG 0.463000 3 46 0 0 0.115264 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840125 27840125 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:27840125C>T ENST00000356790.2 + 3 947 c.702C>T c.(700-702)gaC>gaT p.D234D NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 234 MAGE. NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 GGTTATATGACGGAATTGAGC 0.468000 8 40 0 0 0.278610 0 0 SNHG14 0 broad.mit.edu 37 15 25490658 25490658 + RNA SNP G G C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr15:25490658G>C ENST00000453082.2 + 0 2719 SNORD115-41_ENST00000363608.1_RNA NR_003343.1 TTGTCCTGAAGAGAGGTGATG 0.498000 4 251 0 0 0.150653 0 0 PSMD3 5709 broad.mit.edu 37 17 38151212 38151212 + Missense_Mutation SNP C C G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:38151212C>G ENST00000264639.4 + 7 1161 c.987C>G c.(985-987)caC>caG p.H329Q PSMD3_ENST00000541736.1_Missense_Mutation_p.H191Q NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 329 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) TCCAGGTGCACAAGCTTCTCA 0.572000 19 40 0 0 0.539581 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 22 47 0 0 0.639603 0 0 CCR7 1236 broad.mit.edu 37 17 38711759 38711759 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:38711759G>A ENST00000246657.2 - 3 434 c.372C>T c.(370-372)ttC>ttT p.F124F CCR7_ENST00000579344.1_Silent_p.F118F NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 124 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) AGTGGACACCGAAGACCCAGG 0.552000 19 20 0 0 0.575678 0 0 PLCG1 5335 broad.mit.edu 37 20 39795459 39795459 + Missense_Mutation SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr20:39795459A>G ENST00000373272.2 + 19 2666 c.2261A>G c.(2260-2262)tAt>tGt p.Y754C PLCG1_ENST00000244007.3_Missense_Mutation_p.Y754C|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y754C NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 754 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) AAGCTGCGCTATCCCATCAAC 0.562000 31 50 0 0 0.769981 0 0 FNDC3A 22862 broad.mit.edu 37 13 49710555 49710555 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr13:49710555G>A ENST00000492622.2 + 6 883 c.578G>A c.(577-579)cGc>cAc p.R193H FNDC3A_ENST00000398316.3_Missense_Mutation_p.R137H|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R193H NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 193 Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TTGAAGGATCGCCAAGGAACA 0.388000 27 25 0 0 0.667858 0 0 NGDN 25983 broad.mit.edu 37 14 23940135 23940135 + Silent SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr14:23940135A>G ENST00000397154.3 + 3 106 c.93A>G c.(91-93)caA>caG p.Q31Q NGDN_ENST00000408901.3_Silent_p.Q31Q Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 31 regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TAACTGCACAAGTGAAATCAC 0.368000 5 94 0 0 0.248553 0 0 COG5 0 broad.mit.edu 37 7 107204267 107204267 + Silent SNP G G C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:107204267G>C ENST00000393603.2 - 1 439 c.168C>G c.(166-168)gtC>gtG p.V56V DUS4L_ENST00000498786.1_Intron|COG5_ENST00000347053.3_Silent_p.V56V|COG5_ENST00000297135.3_Silent_p.V56V NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 56 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 GAAGTTCCCGGACTGTAGCTG 0.667000 10 20 0 0 0.361761 0 0 FLNB 2317 broad.mit.edu 37 3 58094210 58094210 + Missense_Mutation SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr3:58094210A>G ENST00000357272.4 + 13 2132 c.1967A>G c.(1966-1968)gAg>gGg p.E656G FLNB_ENST00000493452.1_Missense_Mutation_p.E487G|FLNB_ENST00000295956.4_Missense_Mutation_p.E656G|FLNB_ENST00000490882.1_Missense_Mutation_p.E656G|FLNB_ENST00000358537.3_Missense_Mutation_p.E656G|FLNB_ENST00000348383.5_Missense_Mutation_p.E656G|FLNB_ENST00000419752.2_Missense_Mutation_p.E487G|FLNB_ENST00000429972.2_Missense_Mutation_p.E656G O75369 FLNB_HUMAN filamin B, beta 656 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCAGGTTTGGAGAAATCTGGA 0.448000 12 19 0 0 0.411799 0 0 MST1L 0 broad.mit.edu 37 1 17084292 17084292 + RNA SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:17084292A>G ENST00000455405.2 - 0 516 TGGTCCCTGGAGGCACCACAT 0.587000 25 159 0 0 0.667858 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185393095 185393095 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr3:185393095G>A ENST00000382199.2 - 9 1155 c.1060C>T c.(1060-1062)Ctg>Ttg p.L354L IGF2BP2_ENST00000421047.2_Silent_p.L297L|IGF2BP2_ENST00000346192.3_Silent_p.L354L|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.L360L NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 354 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTAACAGCCAGCATATCATTT 0.463000 15 123 0 0 0.500413 0 0 FGD6 55785 broad.mit.edu 37 12 95535225 95535225 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:95535225G>A ENST00000343958.4 - 6 2999 c.2776C>T c.(2776-2778)Cct>Tct p.P926S FGD6_ENST00000546711.1_Missense_Mutation_p.P926S|FGD6_ENST00000549499.1_Missense_Mutation_p.P926S NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 926 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TACAGCTGAGGCAAGTAGTAT 0.448000 4 76 0 0 0.184627 0 0 MST1L 0 broad.mit.edu 37 1 17084293 17084293 + RNA SNP G G T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:17084293G>T ENST00000455405.2 - 0 515 GGTCCCTGGAGGCACCACATA 0.587000 24 157 7.88262e-20 8.74779e-20 0.654019 1 0 RAG1 5896 broad.mit.edu 37 11 36596675 36596675 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr11:36596675C>T ENST00000299440.5 + 2 1933 c.1821C>T c.(1819-1821)gaC>gaT p.D607D NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 607 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAATGGGAGACGTGAGTGAGA 0.468000 Familial Hemophagocytic Lymphohistiocytosis 10 29 0 0 0.361761 0 0 CLDN4 1364 broad.mit.edu 37 7 73245693 73245693 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:73245693C>T ENST00000435050.1 + 2 2842 c.162C>T c.(160-162)tgC>tgT p.C54C CLDN4_ENST00000431918.1_Silent_p.C54C|CLDN4_ENST00000340958.2_Silent_p.C54C O14493 CLD4_HUMAN claudin 4 54 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) GGATGAACTGCGTGGTGCAGA 0.642000 3 40 0 0 0.150653 0 0 SEC24D 9871 broad.mit.edu 37 4 119649799 119649799 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr4:119649799G>A ENST00000379735.5 - 22 3149 c.2878C>T c.(2878-2880)Ctg>Ttg p.L960L SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000280551.6_Silent_p.L959L|SEC24D_ENST00000511481.1_Silent_p.L590L NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 959 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 ACTTCAGGCAGCAATGTCTTA 0.303000 9 44 0 0 0.335167 0 0 MDM4 4194 broad.mit.edu 37 1 204518349 204518349 + Missense_Mutation SNP A A C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:204518349A>C ENST00000367182.3 + 11 1174 c.1012A>C c.(1012-1014)Acc>Ccc p.T338P MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Missense_Mutation_p.T288P|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 338 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TTCAAAGTTAACCCATTCTCT 0.428000 A """GBM, bladder, retinoblastoma""" 15 116 0 0 0.539581 0 0 PLXNA4 91584 broad.mit.edu 37 7 131848964 131848964 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:131848964G>A ENST00000359827.3 - 24 5399 c.4437C>T c.(4435-4437)ggC>ggT p.G1479G PLXNA4_ENST00000321063.4_Silent_p.G1479G Q9HCM2 PLXA4_HUMAN plexin A4 1479 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGCGGGCCTCGCCCGTGATGG 0.592000 7 29 0 0 0.278610 0 0 FCGBP 8857 broad.mit.edu 37 19 40408740 40408740 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr19:40408740C>T ENST00000221347.6 - 8 4106 c.4099G>A c.(4099-4101)Gcc>Acc p.A1367T NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1367 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGTCGTAGGCCACACGCAGG 0.587000 16 30 0 0 0.500413 0 0 AATF 26574 broad.mit.edu 37 17 35345964 35345964 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:35345964G>A ENST00000225402.5 + 6 1345 c.1094G>A c.(1093-1095)cGc>cAc p.R365H NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 365 RB1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) TACAGGAACCGCACACTTCAG 0.507000 4 43 0 0 0.150653 0 0 SCMH1 22955 broad.mit.edu 37 1 41579187 41579187 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:41579187C>T ENST00000402904.2 - 8 851 c.483G>A c.(481-483)tcG>tcA p.S161S SCMH1_ENST00000326197.7_Silent_p.S161S|SCMH1_ENST00000372596.1_Silent_p.S100S|SCMH1_ENST00000397171.2_Silent_p.S100S|SCMH1_ENST00000372597.1_Silent_p.S114S|SCMH1_ENST00000397174.2_Silent_p.S141S|SCMH1_ENST00000361191.5_Silent_p.S100S|SCMH1_ENST00000372595.1_Silent_p.S100S|SCMH1_ENST00000337495.5_Silent_p.S171S|SCMH1_ENST00000361705.3_Silent_p.S114S|SCMH1_ENST00000456518.2_Intron NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 161 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) TGTGGGAAGGCGATGGTGGCT 0.443000 13 20 0 0 0.435327 0 0 HRNR 388697 broad.mit.edu 37 1 152188371 152188371 + Missense_Mutation SNP G G T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:152188371G>T ENST00000368801.2 - 3 5809 c.5734C>A c.(5734-5736)Caa>Aaa p.Q1912K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1912 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCGTGTTGTTCACCCCTA 0.557000 119 1647 7.65386e-43 8.59878e-43 0.870114 1 0 WNK1 65125 broad.mit.edu 37 12 989896 989896 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:989896C>T ENST00000537687.1 + 12 4265 c.3622C>T c.(3622-3624)Cct>Tct p.P1208S WNK1_ENST00000315939.6_Missense_Mutation_p.P948S|WNK1_ENST00000340908.4_Missense_Mutation_p.P541S|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1446S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 948 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGGCTTCCCACCTCGACTGCC 0.468000 16 466 0 0 0.520397 0 0 ITIH2 3698 broad.mit.edu 37 10 7780699 7780699 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr10:7780699G>A ENST00000358415.4 + 16 2239 c.2073G>A c.(2071-2073)acG>acA p.T691T ITIH2_ENST00000379587.4_Silent_p.T680T NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 691 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TAGAGTCCACGCCACCCCCAC 0.562000 12 38 0 0 0.387290 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 21 3 0 0 0.608945 0 0 KRT73 319101 broad.mit.edu 37 12 53008406 53008406 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:53008406G>A ENST00000305748.3 - 4 810 c.776C>T c.(775-777)gCc>gTc p.A259V RP11-641A6.2_ENST00000552364.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 259 Coil 1B.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCATCCAGGGCATCCACCTT 0.542000 5 42 0 0 0.217242 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135825810 135825810 + Nonsense_Mutation SNP C C A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:135825810C>A ENST00000250617.6 - 5 1800 c.595G>T c.(595-597)Gaa>Taa p.E199* ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E45* NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 199 SH3. E -> G (in Ref. 2; CAD97632). apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) AATGTGCCTTCCCACCAGCCT 0.408000 13 207 0.00136819 0.00146477 0.411799 1 0 PRND 23627 broad.mit.edu 37 20 4705632 4705632 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr20:4705632C>T ENST00000305817.2 + 2 506 c.435C>T c.(433-435)tgC>tgT p.C145C NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 145 Globular. protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 TCAAGCATTGCGAGTTTTGGT 0.602000 8 33 0 0 0.278610 0 0 EPPK1 83481 broad.mit.edu 37 8 144942235 144942235 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr8:144942235G>A ENST00000525985.1 - 2 5258 c.5187C>T c.(5185-5187)ttC>ttT p.F1729F P58107 EPIPL_HUMAN epiplakin 1 1729 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGTTGGGGTCGAAGAAGCCCT 0.622000 33 47 0 0 0.750413 0 0 FBF1 85302 broad.mit.edu 37 17 73924171 73924171 + Missense_Mutation SNP T T G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:73924171T>G ENST00000586717.1 - 7 614 c.341A>C c.(340-342)cAc>cCc p.H114P FBF1_ENST00000319129.5_Missense_Mutation_p.H114P|FBF1_ENST00000389570.4_Missense_Mutation_p.H114P A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 114 p.H114P(1) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 AGGCTTGGGGTGGTTGGGCAG 0.537000 6 20 0 0 0.457914 0 0 MBP 4155 broad.mit.edu 37 18 74729068 74729068 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr18:74729068G>A ENST00000397860.3 - 4 510 c.296C>T c.(295-297)gCc>gTc p.A99V MBP_ENST00000397863.1_Missense_Mutation_p.A99V|MBP_ENST00000579129.1_Missense_Mutation_p.A99V|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000355994.2_Missense_Mutation_p.A99V|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.A99V NM_001025100.1 NP_001020271.1 P02686 MBP_HUMAN myelin basic protein 99 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) CCTCCCCGGGGCATCTCGGGA 0.632000 3 41 0 0 0.115264 0 0 CFHR5 81494 broad.mit.edu 37 1 196973949 196973949 + Missense_Mutation SNP T T C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:196973949T>C ENST00000367414.5 + 9 1617 c.1561T>C c.(1561-1563)Tgg>Cgg p.W521R CFHR5_ENST00000256785.4_Missense_Mutation_p.W497R NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 497 Sushi 9. L -> I (in dbSNP:rs35957013). complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AAATAAACAGTGGTCAGAACC 0.378000 24 51 0 0 0.667858 0 0 CTD-3074O7.2 0 broad.mit.edu 37 11 66326855 66326855 + RNA SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr11:66326855C>T ENST00000504911.1 - 0 220 ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA CCCAGGAGCTCAAGTAggcgg 0.731000 4 6 0 0 0.150653 0 0 ATRX 546 broad.mit.edu 37 X 76909629 76909629 + Nonsense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:76909629G>A ENST00000373344.5 - 14 4490 c.4276C>T c.(4276-4278)Cga>Tga p.R1426* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1426 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1426*(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTAATACGTCGCCTTTTCTTT 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 38 92 0 0 0.840704 0 0 PIGS 94005 broad.mit.edu 37 17 26890906 26890906 + Silent SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:26890906G>A ENST00000308360.7 - 4 681 c.306C>T c.(304-306)tgC>tgT p.C102C PIGS_ENST00000543734.1_Silent_p.C41C|PIGS_ENST00000395346.2_Silent_p.C94C NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 102 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TCTGGAAACGGCATTTGATTT 0.512000 4 109 0 0 0.150653 0 0 UQCC 0 broad.mit.edu 37 20 33969807 33969807 + Missense_Mutation SNP G G T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr20:33969807G>T ENST00000397554.1 - 4 257 c.247C>A c.(247-249)Cca>Aca p.P83T UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000542501.1_Missense_Mutation_p.P83T|UQCC_ENST00000374385.5_Missense_Mutation_p.P83T|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000397556.3_5'UTR|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.P83T|UQCC_ENST00000359226.2_Missense_Mutation_p.P83T|UQCC_ENST00000349714.5_Missense_Mutation_p.P83T Q9NVA1 UQCC_HUMAN 83 cytoplasmic membrane-bounded vesicle p.P83T(1) breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) ACAGGCTGTGGGGAATCTTTG 0.358000 5 134 0.184627 0.188776 0.184627 1 0 KCNMB4 27345 broad.mit.edu 37 12 70824288 70824288 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:70824288G>A ENST00000258111.4 + 3 947 c.488G>A c.(487-489)cGc>cAc p.R163H NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 163 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CTTCTGCATCGCACTCATGAT 0.488000 16 128 0 0 0.557998 0 0 SOHLH2 54937 broad.mit.edu 37 13 36776075 36776075 + Silent SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr13:36776075A>G ENST00000379881.3 - 2 292 c.204T>C c.(202-204)gtT>gtC p.V68V CCDC169-SOHLH2_ENST00000511166.1_Silent_p.V145V|SOHLH2_ENST00000554962.1_Silent_p.V145V|SOHLH2_ENST00000317764.6_Silent_p.V68V NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CCTTCAAGAGAACCATGTTGA 0.423000 21 60 0 0 0.608945 0 0 TTN 7273 broad.mit.edu 37 2 179470362 179470362 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr2:179470362C>T ENST00000589042.1 - 279 53884 c.53660G>A c.(53659-53661)cGc>cAc p.R17887H TTN_ENST00000342992.6_Missense_Mutation_p.R15319H|TTN_ENST00000359218.5_Missense_Mutation_p.R8947H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8822H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9014H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16246H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16246 Fibronectin type-III 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCATTACTGCGGGGCTCTTT 0.473000 5 87 0 0 0.184627 0 0 STK10 6793 broad.mit.edu 37 5 171520604 171520604 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr5:171520604C>T ENST00000176763.5 - 9 1709 c.1366G>A c.(1366-1368)Gcc>Acc p.A456T NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 456 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTCTCCAGGGCGCTGCTGTTG 0.647000 8 46 0 0 0.335167 0 0 IFIH1 64135 broad.mit.edu 37 2 163134056 163134056 + Missense_Mutation SNP A A C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr2:163134056A>C ENST00000263642.2 - 10 2308 c.1913T>G c.(1912-1914)tTt>tGt p.F638C NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 638 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TATGACTGCAAACTTCTTATC 0.353000 17 18 0 0 0.520397 0 0 SORL1 6653 broad.mit.edu 37 11 121421301 121421301 + Missense_Mutation SNP A A G TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr11:121421301A>G ENST00000260197.7 + 16 2317 c.2188A>G c.(2188-2190)Aag>Gag p.K730E NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 730 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CAGCTACCGGAAGATTTCTGG 0.557000 7 59 0 0 0.248553 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969496 140969496 + Missense_Mutation SNP C C A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:140969496C>A ENST00000298296.1 + 4 823 c.823C>A c.(823-825)Ctc>Atc p.L275I MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 275 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCAGAACCGCCTCCTGATTCT 0.502000 31 203 2.85442e-18 3.12954e-18 0.750413 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 172 0 0 0.184627 0 0 CCDC88C 440193 broad.mit.edu 37 14 91755473 91755473 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr14:91755473C>T ENST00000389857.6 - 25 4503 c.4417G>A c.(4417-4419)Gcc>Acc p.A1473T NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1473 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CCGTTGTGGGCGTCGCGCTCT 0.701000 6 18 0 0 0.217242 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39784908 39784908 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr14:39784908G>A ENST00000553728.1 + 20 3196 c.2983G>A c.(2983-2985)Gca>Aca p.A995T CTAGE5_ENST00000557038.1_Missense_Mutation_p.A380T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A448T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A460T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A465T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A460T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A385T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A460T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A431T TGAGAAAAAAGCACATGATAA 0.254000 21 76 0 0 0.667858 0 0 SHH 6469 broad.mit.edu 37 7 155599004 155599004 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:155599004C>T ENST00000297261.2 - 2 698 c.548G>A c.(547-549)tGc>tAc p.C183Y NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 183 C -> F (in HPE3).|C -> R (in HPE3).|C -> Y (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTCACCGAGCAGTGGATATG 0.622000 23 75 0 0 0.654019 0 0 PCDH12 51294 broad.mit.edu 37 5 141335138 141335138 + Missense_Mutation SNP C C T rs139572685 TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr5:141335138C>T ENST00000231484.3 - 1 3489 c.2279G>A c.(2278-2280)cGc>cAc p.R760H NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 760 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTGCTGGCGGTAGGTGGA 0.587000 3 41 0 0 0.150653 0 0 SVEP1 79987 broad.mit.edu 37 9 113139596 113139596 + Missense_Mutation SNP C C A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr9:113139596C>A ENST00000401783.2 - 45 10795 c.10459G>T c.(10459-10461)Gct>Tct p.A3487S SVEP1_ENST00000297826.5_Missense_Mutation_p.A1413S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A3464S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3487 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGGAACAAGCATTTGGGCGT 0.507000 18 37 2.94398e-08 3.18931e-08 0.557998 1 0 ASB9 140462 broad.mit.edu 37 X 15272893 15272893 + Missense_Mutation SNP G G A TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:15272893G>A ENST00000546332.1 - 4 731 c.248C>T c.(247-249)tCt>tTt p.S83F ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S83F|ASB9_ENST00000380483.3_Missense_Mutation_p.S83F|ASB9_ENST00000380488.4_Missense_Mutation_p.S83F NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 83 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) CTTCACACAAGAGAGATGACC 0.443000 25 194 0 0 0.667858 0 0 PTPRF 5792 broad.mit.edu 37 1 44079328 44079328 + Missense_Mutation SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr1:44079328C>T ENST00000359947.4 + 23 4353 c.4013C>T c.(4012-4014)gCg>gTg p.A1338V PTPRF_ENST00000372413.3_Missense_Mutation_p.A1329V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.A1329V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A697V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1338V NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1338 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCGACCTGGCGGACAACATC 0.597000 19 42 0 0 0.539581 0 0 CTC1 80169 broad.mit.edu 37 17 8132163 8132163 + Missense_Mutation SNP T T C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:8132163T>C ENST00000315684.8 - 21 3276 c.3269A>G c.(3268-3270)aAt>aGt p.N1090S NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1090 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CACATGGTGATTCCTACAGGT 0.567000 4 18 0 0 0.150653 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 71 0 0 0.150653 0 0 CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 5 5 --- --- --- --- TAF6 6878 broad.mit.edu 37 7 99711904 99711904 + Frame_Shift_Del DEL C C - TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr7:99711904delC ENST00000472509.1 - 1 277 c.100delG c.(100-102)ttfs p.V34fs TAF6_ENST00000437822.2_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000497233.1_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000344095.4_Intron P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 655 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCAGAGGAACGGGGCAGGCA 0.567 18 14 --- --- --- --- REXO1L1 254958 broad.mit.edu 37 8 86574438 86574439 + Frame_Shift_Del DEL AC AC - TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr8:86574438_86574439delAC ENST00000379010.2 - 1 1287_1288 c.1288_1289delGT c.(1288-1290)afs p.V430fs NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 430 GOR1-125 epitope. cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 CTGGTCGCGTACACAGCGGCCC 0.658 4 5 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46245951 46245960 + Frame_Shift_Del DEL ATCAAAAGTG ATCAAAAGTG - TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr12:46245951_46245960delATCAAAAGTG ENST00000334344.6 + 15 4217_4226 c.4045_4054delATCAAAAGTG c.(4045-4056)atfs p.IKSD1349fs ARID2_ENST00000444670.1_Frame_Shift_Del_p.IKSD959fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.IKSD1200fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1349 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATGCAAGATATCAAAAGTGATTTGAGAAA 0.357 """N, S, F""" hepatocellular carcinoma 19 42 --- --- --- --- SEZ6 124925 broad.mit.edu 37 17 27296913 27296914 + Frame_Shift_Ins INS - - C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chr17:27296913_27296914insC ENST00000317338.12 - 4 1343_1344 c.915_916insG c.(913-918)ggctgafs p.*306fs SEZ6_ENST00000442608.3_Frame_Shift_Ins_p.*306fs|SEZ6_ENST00000360295.9_Frame_Shift_Ins_p.*306fs|SEZ6_ENST00000335960.6_Frame_Shift_Ins_p.*306fs|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 306 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGTGGGTCAGGCCCCCCCAGGC 0.614 8 31 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030245 136030245 + RNA DEL T T - TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d77baeae-05d1-4edc-ba95-7292fcc375fb 603f649f-20bf-409c-88f4-ba1b89933074 g.chrX:136030245delT ENST00000424306.1 + 0 2052 GAGAACCTGCTTTTTTTTTTT 0.438 3 4 --- --- --- ---