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 LEPRE1 64175 broad.mit.edu 37 1 43213468 43213468 + Splice_Site SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:43213468C>T ENST00000236040.4 - 13 1880 c.1838_splice c.e13-1 p.A614_splice LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Splice_Site_p.A614_splice|LEPRE1_ENST00000296388.5_Splice_Site_p.A614_splice NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 614 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TAAAGGATGGCGCTGGGAAAG 0.557000 12 36 0 0 0.080935 0 0 LTBP1 4052 broad.mit.edu 37 2 33500077 33500077 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:33500077G>A ENST00000404816.2 + 17 3142 c.2789G>A c.(2788-2790)cGc>cAc p.R930H LTBP1_ENST00000418533.2_Missense_Mutation_p.R604H|LTBP1_ENST00000404525.1_Missense_Mutation_p.R551H|LTBP1_ENST00000354476.3_Missense_Mutation_p.R931H|LTBP1_ENST00000407925.1_Missense_Mutation_p.R604H|LTBP1_ENST00000390003.4_Missense_Mutation_p.R605H|LTBP1_ENST00000402934.1_Missense_Mutation_p.R551H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 930 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TCCCAGGGCCGCTGTGAAAAC 0.428000 30 40 0 0 0.037714 0 0 ATP8A2 51761 broad.mit.edu 37 13 26411405 26411405 + Silent SNP C C G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:26411405C>G ENST00000381655.2 + 29 3001 c.2859C>G c.(2857-2859)ggC>ggG p.G953G ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.G888G NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 913 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCCAGAATGGCGAAGGCTTCA 0.493000 19 107 0 0 0.043863 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62645903 62645903 + Missense_Mutation SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:62645903G>T ENST00000337910.5 - 7 1879 c.1542C>A c.(1540-1542)ttC>ttA p.F514L RHOBTB1_ENST00000357917.4_Missense_Mutation_p.F514L NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 514 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ATGACCCCCCGAACATGGCTG 0.473000 6 144 5.4927e-09 6.64906e-09 0.047766 1 0 OGDH 4967 broad.mit.edu 37 7 44747321 44747321 + Silent SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:44747321C>T ENST00000222673.5 + 22 2979 c.2937C>T c.(2935-2937)cgC>cgT p.R979R OGDH_ENST00000449767.1_Silent_p.R975R|OGDH_ENST00000447398.1_Silent_p.R990R|OGDH_ENST00000444676.1_Silent_p.R994R|OGDH_ENST00000439616.2_Silent_p.R829R|OGDH_ENST00000543843.1_Silent_p.R930R NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 979 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CCATCAGCCGCGCCAAGCCCG 0.597000 6 42 0 0 0.069234 0 0 CCDC102B 79839 broad.mit.edu 37 18 66504396 66504396 + Silent SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:66504396A>G ENST00000360242.5 + 2 513 c.396A>G c.(394-396)aaA>aaG p.K132K CCDC102B_ENST00000584156.1_Silent_p.K132K|CCDC102B_ENST00000358653.5_Silent_p.K132K|CCDC102B_ENST00000319445.6_Silent_p.K132K|CCDC102B_ENST00000577772.1_3'UTR NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 132 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TGGCGATGAAAGAATTGAGTA 0.443000 3 86 0 0 0.004672 0 0 CCDC105 126402 broad.mit.edu 37 19 15132685 15132685 + Missense_Mutation SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:15132685A>G ENST00000292574.3 + 6 1287 c.1205A>G c.(1204-1206)cAg>cGg p.Q402R NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 402 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CGCATGTACCAGAGACACGTG 0.632000 10 70 0 0 0.069234 0 0 TARBP1 6894 broad.mit.edu 37 1 234529569 234529569 + Missense_Mutation SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:234529569C>T ENST00000040877.1 - 27 4257 c.4258G>A c.(4258-4260)Gaa>Aaa p.E1420K TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1420 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TTATCTGCTTCGACCAAATTA 0.388000 4 35 0 0 0.009096 0 0 PPEF2 5470 broad.mit.edu 37 4 76793210 76793210 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:76793210G>A ENST00000286719.7 - 13 1973 c.1617C>T c.(1615-1617)aaC>aaT p.N539N NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 539 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGGTCACCTTGTTAGCTTGAT 0.428000 8 48 0 0 0.038147 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250075 140250075 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:140250075G>A ENST00000398640.2 + 1 1387 c.1387G>A c.(1387-1389)Gtg>Atg p.V463M PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGTGTTCGTGAAGGAGAA 0.652000 21 61 0 0 0.076483 0 0 EFCAB13 124989 broad.mit.edu 37 17 45451930 45451930 + Missense_Mutation SNP A A T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:45451930A>T ENST00000331493.2 + 12 1381 c.970A>T c.(970-972)Agt>Tgt p.S324C EFCAB13_ENST00000517484.1_Missense_Mutation_p.S228C NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 GAAGAAAAATAGTTTGTCTTC 0.299000 10 42 0 0 0.058154 0 0 FILIP1 27145 broad.mit.edu 37 6 76022205 76022205 + Missense_Mutation SNP G G C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:76022205G>C ENST00000393004.2 - 5 3564 c.3343C>G c.(3343-3345)Cac>Gac p.H1115D FILIP1_ENST00000370020.1_Missense_Mutation_p.H1016D|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.H1115D Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1115 p.H1115Y(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GAGGAGAGGTGATTCCTGGGA 0.537000 9 142 0 0 0.058154 0 0 VCAN 1462 broad.mit.edu 37 5 82849190 82849190 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:82849190G>A ENST00000265077.3 + 11 10066 c.9501G>A c.(9499-9501)gaG>gaA p.E3167E VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Silent_p.E426E|VCAN_ENST00000342785.4_Silent_p.E1413E|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.E2180E|VCAN_ENST00000512590.2_Silent_p.E1365E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3167 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGATACCGAGACATGTGACT 0.498000 19 65 0 0 0.050027 0 0 LYZL1 84569 broad.mit.edu 37 10 29580783 29580783 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:29580783G>A ENST00000375500.3 + 2 182 c.125G>A c.(124-126)cGg>cAg p.R42Q NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 0 cell wall macromolecule catabolic process extracellular region lysozyme activity p.R42Q(1) central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) TTCTGTCTCCGGCAGGCTTTG 0.547000 11 14 0 0 0.033300 0 0 FSHR 2492 broad.mit.edu 37 2 49295412 49295412 + Missense_Mutation SNP T T C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:49295412T>C ENST00000406846.2 - 2 289 c.170A>G c.(169-171)aAg>aGg p.K57R FSHR_ENST00000346173.3_Missense_Mutation_p.K57R|FSHR_ENST00000304421.4_Missense_Mutation_p.K57R NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 57 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GACTCGAAGCTTGGTGAGGAC 0.403000 Gonadal Dysgenesis, 46 XX 4 284 0 0 0.009096 0 0 KCNMA1 3778 broad.mit.edu 37 10 78729751 78729751 + Missense_Mutation SNP T T A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:78729751T>A ENST00000286627.5 - 19 3119 c.2167A>T c.(2167-2169)Acc>Tcc p.T723S KCNMA1_ENST00000406533.3_Missense_Mutation_p.T785S|KCNMA1_ENST00000372440.1_Missense_Mutation_p.T723S|KCNMA1_ENST00000404857.1_Missense_Mutation_p.T723S|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.T781S|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.T784S|KCNMA1_ENST00000286628.8_Missense_Mutation_p.T781S|KCNMA1_ENST00000372443.1_Missense_Mutation_p.T723S|RP11-443A13.5_ENST00000600782.1_RNA NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 734 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TTAGGCGAGGTGTTGGGTGAG 0.547000 7 101 0 0 0.038147 0 0 USP44 84101 broad.mit.edu 37 12 95927783 95927783 + Missense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:95927783C>A ENST00000258499.3 - 2 538 c.250G>T c.(250-252)Gat>Tat p.D84Y USP44_ENST00000552440.1_Missense_Mutation_p.D84Y|USP44_ENST00000537435.2_Missense_Mutation_p.D84Y|USP44_ENST00000393091.2_Missense_Mutation_p.D84Y NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 84 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 AGAACATAATCATCACAAAGG 0.383000 OREG0022039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 0.014758 0.016011 0.014758 1 0 MON2 23041 broad.mit.edu 37 12 62936948 62936948 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:62936948G>A ENST00000393630.3 + 20 2827 c.2436G>A c.(2434-2436)ctG>ctA p.L812L MON2_ENST00000393632.2_Silent_p.L812L|MON2_ENST00000552115.1_Silent_p.L812L|MON2_ENST00000393629.2_Silent_p.L812L|MON2_ENST00000280379.6_Silent_p.L812L|MON2_ENST00000546600.1_Silent_p.L812L|MON2_ENST00000552738.1_Silent_p.L789L NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 812 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TAGAAATTCTGTGGAGACCTC 0.313000 11 26 0 0 0.105934 0 0 FMNL2 114793 broad.mit.edu 37 2 153476138 153476138 + Silent SNP T T A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:153476138T>A ENST00000288670.9 + 15 2110 c.1743T>A c.(1741-1743)acT>acA p.T581T FMNL2_ENST00000475377.2_5'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 581 Pro-rich. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CAGCTGAGACTGTACCAGCTC 0.637000 3 29 0 0 0.009096 0 0 NEU3 10825 broad.mit.edu 37 11 74716632 74716632 + Missense_Mutation SNP T T G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:74716632T>G ENST00000294064.4 + 3 1408 c.481T>G c.(481-483)Ttc>Gtc p.F161V NEU3_ENST00000545272.1_Missense_Mutation_p.F52V|NEU3_ENST00000544263.1_Missense_Mutation_p.F128V|NEU3_ENST00000531509.1_Missense_Mutation_p.F161V|NEU3_ENST00000532963.1_Missense_Mutation_p.L90R|NEU3_ENST00000529024.1_Missense_Mutation_p.L90R NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 161 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 CCGCCTTTGCTTCATCTACAG 0.532000 13 77 0 0 0.024245 0 0 HBG2 3048 broad.mit.edu 37 11 5274583 5274583 + Missense_Mutation SNP A A C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:5274583A>C ENST00000380259.2 - 8 1608 c.368T>G c.(367-369)tTc>tGc p.F123C HBG2_ENST00000380252.1_Missense_Mutation_p.F113C|HBG2_ENST00000336906.4_Missense_Mutation_p.F123C hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAGGGGTGAATTCTTTGCC 0.522000 7 78 0 0 0.058154 0 0 SACS 26278 broad.mit.edu 37 13 23912692 23912692 + Missense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:23912692C>A ENST00000382298.3 - 10 5911 c.5323G>T c.(5323-5325)Gct>Tct p.A1775S SACS_ENST00000402364.1_Missense_Mutation_p.A1025S|SACS_ENST00000382292.3_Missense_Mutation_p.A1775S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1775 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTAAATCAGCAATCCTTCTG 0.423000 9 84 3.09899e-07 3.67405e-07 0.047766 1 0 PRDM16 63976 broad.mit.edu 37 1 3327964 3327964 + Missense_Mutation SNP G G C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:3327964G>C ENST00000378398.3 + 10 1288 c.1206G>C c.(1204-1206)aaG>aaC p.K402N PRDM16_ENST00000514189.1_Missense_Mutation_p.K402N|PRDM16_ENST00000511072.1_Missense_Mutation_p.K402N|PRDM16_ENST00000270722.5_Missense_Mutation_p.K401N|PRDM16_ENST00000442529.2_Missense_Mutation_p.K401N|PRDM16_ENST00000441472.2_Missense_Mutation_p.K401N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.K401N Q9HAZ2 PRD16_HUMAN PR domain containing 16 401 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCTGCCACAAGTCCTACACGC 0.537000 T EVI1 """MDS, AML""" 6 17 0 0 0.038147 0 0 FLT3 2322 broad.mit.edu 37 13 28578244 28578244 + Missense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:28578244C>A ENST00000380982.4 - 24 3017 c.2936G>T c.(2935-2937)aGc>aTc p.S979I FLT3_ENST00000537084.1_Missense_Mutation_p.S935I|FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.S976I P36888 FLT3_HUMAN fms-related tyrosine kinase 3 976 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CATCTCTCTGCTGAAAGGTCG 0.473000 """Mis, O""" """AML, ALL""" 7 93 5.18039e-06 6.01763e-06 0.038147 1 0 PSMD1 5707 broad.mit.edu 37 2 231926010 231926010 + Nonsense_Mutation SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:231926010G>T ENST00000308696.6 + 2 208 c.46G>T c.(46-48)Gaa>Taa p.E16* PSMD1_ENST00000409643.1_Nonsense_Mutation_p.E16*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.E16* NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 16 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 regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GGATGAAGATGAACCACAGCT 0.328000 3 35 0.00024832 0.000279969 0.009096 1 0 SLC9A1 6548 broad.mit.edu 37 1 27436121 27436121 + Nonsense_Mutation SNP G G A rs150618776 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:27436121G>A ENST00000263980.3 - 3 1536 c.961C>T c.(961-963)Cga>Tga p.R321* SLC9A1_ENST00000374086.3_Nonsense_Mutation_p.R321*|SLC9A1_ENST00000545949.1_5'UTR NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 321 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GAGGTAAATCGGGAGGTGAAG 0.597000 4 11 0 0 0.014758 0 0 SPOCK1 6695 broad.mit.edu 37 5 136324155 136324155 + Missense_Mutation SNP T T C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:136324155T>C ENST00000394945.1 - 8 1053 c.884A>G c.(883-885)aAg>aGg p.K295R SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.K295R NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 295 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTAGAAAGCTTGCCATCCTT 0.532000 16 129 0 0 0.028581 0 0 CHRM4 1132 broad.mit.edu 37 11 46408021 46408021 + Silent SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:46408021C>T ENST00000433765.2 - 1 86 c.87G>A c.(85-87)acG>acA p.T29T NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 29 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CCATTTCCACCGTCTCATAGC 0.567000 3 22 0 0 0.004672 0 0 FILIP1 27145 broad.mit.edu 37 6 76022197 76022197 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:76022197G>A ENST00000393004.2 - 5 3572 c.3351C>T c.(3349-3351)tcC>tcT p.S1117S FILIP1_ENST00000370020.1_Silent_p.S1018S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.S1117S Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1117 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CAGGCCGTGAGGAGAGGTGAT 0.537000 9 144 0 0 0.058154 0 0 IRAK3 11213 broad.mit.edu 37 12 66641740 66641740 + Missense_Mutation SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:66641740G>T ENST00000261233.4 + 12 2001 c.1580G>T c.(1579-1581)aGa>aTa p.R527I IRAK3_ENST00000457197.2_Missense_Mutation_p.R466I NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 527 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GAGAGCAAGAGAAATGAGGAA 0.433000 14 190 1.49906e-05 1.72392e-05 0.020292 1 0 ACAD8 27034 broad.mit.edu 37 11 134129553 134129553 + Missense_Mutation SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:134129553A>G ENST00000281182.4 + 6 725 c.619A>G c.(619-621)Aca>Gca p.T207A ACAD8_ENST00000374752.4_Missense_Mutation_p.T80A|ACAD8_ENST00000543332.1_Missense_Mutation_p.T109A|ACAD8_ENST00000537423.1_Missense_Mutation_p.T130A|ACAD8_ENST00000524547.1_3'UTR NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 207 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CATGTGCCGAACAGGAGGACC 0.542000 6 57 0 0 0.058154 0 0 NAV1 89796 broad.mit.edu 37 1 201757641 201757641 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:201757641G>A ENST00000367296.4 + 10 3461 c.3041G>A c.(3040-3042)aGc>aAc p.S1014N IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Missense_Mutation_p.S623N|NAV1_ENST00000295624.6_Missense_Mutation_p.S1014N|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.S1014N NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1014 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CGCTCCAACAGCATCCCCACC 0.632000 4 171 0 0 0.021553 0 0 HECTD4 283450 broad.mit.edu 37 12 112686139 112686139 + Missense_Mutation SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:112686139C>T ENST00000550722.1 - 26 4085 c.3690G>A c.(3688-3690)atG>atA p.M1230I HECTD4_ENST00000430131.2_Missense_Mutation_p.M954I|HECTD4_ENST00000377560.5_Missense_Mutation_p.M1204I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTGTCTCTCCATGGCATTGA 0.289000 3 15 0 0 0.009096 0 0 KLHL40 131377 broad.mit.edu 37 3 42733406 42733406 + Missense_Mutation SNP T T C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:42733406T>C ENST00000287777.4 + 6 1887 c.1787T>C c.(1786-1788)gTc>gCc p.V596A NM_152393.2 NP_689606.2 kelch-like family member 40 TGGGAGGGTGTCCTGCGGGAG 0.567000 15 162 0 0 0.038395 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13180 13180 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrM:13180G>A ENST00000361567.2 + 1 844 c.844G>A c.(844-846)Gct>Act p.A282T P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 282 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TATGCTTAGGCGCTATCACCA 0.443000 31 330 0 0 0.059317 0 0 DMD 1756 broad.mit.edu 37 X 32509548 32509548 + Missense_Mutation SNP A A C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:32509548A>C ENST00000357033.4 - 20 2674 c.2468T>G c.(2467-2469)cTt>cGt p.L823R DMD_ENST00000378677.2_Missense_Mutation_p.L819R 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 823 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) CAGCCAGTTAAGTCTCTCACT 0.413000 4 27 0 0 0.009096 0 0 NACA2 342538 broad.mit.edu 37 17 59667970 59667970 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:59667970G>A ENST00000521764.1 - 1 593 c.572C>T c.(571-573)tCg>tTg p.S191L NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 191 UBA. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) CTTTGCTCTCGACACATTTGC 0.408000 17 198 0 0 0.038395 0 0 DNAJC13 23317 broad.mit.edu 37 3 132172941 132172941 + Missense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:132172941C>A ENST00000260818.6 + 9 1120 c.872C>A c.(871-873)cCa>cAa p.P291Q DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 291 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TCAGAAAATCCACAACTTTTT 0.264000 4 49 0.014758 0.016011 0.014758 1 0 PGBD2 267002 broad.mit.edu 37 1 249211872 249211872 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:249211872G>A ENST00000355360.4 + 3 606 c.336G>A c.(334-336)ttG>ttA p.L112L PGBD2_ENST00000329291.5_Silent_p.L363L|PGBD2_ENST00000539153.1_Silent_p.L360L NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 363 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGTCCATTTTGAGGAAAAAGG 0.418000 30 102 0 0 0.034045 0 0 TRIM42 287015 broad.mit.edu 37 3 140407231 140407231 + Silent SNP C C T rs148437702 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:140407231C>T ENST00000286349.3 + 3 1898 c.1707C>T c.(1705-1707)gaC>gaT p.D569D NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 569 intracellular zinc ion binding p.D569D(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AACCCACAGACGGCCTCTACA 0.572000 23 91 0 0 0.034045 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255686 85255686 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:85255686G>A ENST00000266682.5 - 12 2459 c.1918C>T c.(1918-1920)Cgt>Tgt p.R640C SLC6A15_ENST00000552192.1_Missense_Mutation_p.R533C|SLC6A15_ENST00000309283.7_Intron NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 640 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TTGAAGCGACGAACAATGAAA 0.443000 59 175 0 0 0.048971 0 0 CNTN5 53942 broad.mit.edu 37 11 100211244 100211244 + Missense_Mutation SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:100211244A>G ENST00000524871.1 + 22 3070 c.2780A>G c.(2779-2781)aAa>aGa p.K927R CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.K927R|CNTN5_ENST00000418526.2_Missense_Mutation_p.K853R|CNTN5_ENST00000528682.1_Missense_Mutation_p.K927R NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 927 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAAACAGTCAAAACTAGAGGG 0.408000 14 106 0 0 0.020292 0 0 CDC42 998 broad.mit.edu 37 1 22405022 22405022 + Translation_Start_Site SNP A A C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:22405022A>C ENST00000421089.2 + 2 133 c.1A>C c.(1-3)Atg>Ctg p.M1L CDC42_ENST00000315554.8_Silent_p.T17T|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Silent_p.T17T|CDC42_ENST00000344548.3_Silent_p.T17T P60953 CDC42_HUMAN cell division cycle 42 0 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TTGGTAAAACATGTCTCCTGA 0.348000 3 54 0 0 0.009096 0 0 GLUD2 2747 broad.mit.edu 37 X 120181912 120181912 + Missense_Mutation SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:120181912A>G ENST00000328078.1 + 1 451 c.374A>G c.(373-375)gAc>gGc p.D125G NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 125 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) ATCCGGCGCGACGACGGCTCC 0.632000 4 25 0 0 0.014758 0 0 PCLO 27445 broad.mit.edu 37 7 82586125 82586125 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:82586125G>A ENST00000423517.2 - 5 4481 c.4144C>T c.(4144-4146)Cca>Tca p.P1382S PCLO_ENST00000333891.8_Missense_Mutation_p.P1382S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1313 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 TCATCAGTTGGAATAAGACTT 0.443000 20 77 0 0 0.043863 0 0 MYH4 4622 broad.mit.edu 37 17 10358095 10358095 + Missense_Mutation SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:10358095C>T ENST00000255381.2 - 22 2578 c.2468G>A c.(2467-2469)cGt>cAt p.R823H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 823 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CATGAAAGCACGGATGTTGTA 0.428000 8 44 0 0 0.058154 0 0 SCG2 7857 broad.mit.edu 37 2 224463855 224463855 + Missense_Mutation SNP T T G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:224463855T>G ENST00000305409.2 - 2 378 c.146A>C c.(145-147)aAg>aCg p.K49T NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 49 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ACTGGGAAACTTTTGGACATT 0.438000 18 164 0 0 0.043863 0 0 TPMT 7172 broad.mit.edu 37 6 18130960 18130960 + Missense_Mutation SNP C C T rs139392616 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:18130960C>T ENST00000309983.4 - 9 762 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase 226 xenobiotic metabolic process cytosol thiopurine S-methyltransferase activity large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Mercaptopurine(DB01033) ACTTTTATGTCGTTCTTCAAA 0.294000 3 33 0 0 0.004672 0 0 POLQ 10721 broad.mit.edu 37 3 121248522 121248522 + Missense_Mutation SNP C C G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:121248522C>G ENST00000264233.5 - 7 1206 c.1078G>C c.(1078-1080)Gag>Cag p.E360Q POLQ_ENST00000488282.1_5'UTR NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 360 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTATAAAACTCTCGAGCAATG 0.353000 DNA polymerases (catalytic subunits) 12 67 0 0 0.105934 0 0 ABCA13 154664 broad.mit.edu 37 7 48450174 48450174 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:48450174G>A ENST00000435803.1 + 40 12152 c.12128G>A c.(12127-12129)cGc>cAc p.R4043H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4043 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity p.R3988H(1)|p.R4043H(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGAGTGACCGCGTGGCCGTC 0.622000 33 236 0 0 0.064281 0 0 COCH 1690 broad.mit.edu 37 14 31354228 31354228 + Silent SNP T T A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:31354228T>A ENST00000382493.4 + 3 367 c.267T>A c.(265-267)tcT>tcA p.S89S RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron|COCH_ENST00000396618.3_Intron|COCH_ENST00000216361.4_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555421.1_RNA O43405 COCH_HUMAN cochlin 244 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CCGTTGACTCTGAAGAGAGAC 0.393000 10 102 0 0 0.069234 0 0 TTN 7273 broad.mit.edu 37 2 179593263 179593263 + Nonsense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:179593263C>A ENST00000589042.1 - 66 19614 c.19390G>T c.(19390-19392)Gga>Tga p.G6464* TTN_ENST00000591111.1_Nonsense_Mutation_p.G6147*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.G5220*|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6147 Ig-like 46. 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) CTACTGCTTCCGAAGTCATTT 0.398000 6 43 8.12818e-05 9.25486e-05 0.029380 1 0 CYCS 54205 broad.mit.edu 37 7 25163649 25163649 + Silent SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:25163649C>T ENST00000305786.2 - 2 259 c.90G>A c.(88-90)ggG>ggA p.G30G CYCS_ENST00000409409.1_Silent_p.G30G|CYCS_ENST00000409764.1_Silent_p.G30G NM_018947.5 NP_061820.1 P99999 CYC_HUMAN cytochrome c, somatic 30 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Melatonin(DB01065)|Minocycline(DB01017) GGAGATTTGGCCCAGTCTTGT 0.443000 3 34 0 0 0.004672 0 0 FLG 2312 broad.mit.edu 37 1 152275390 152275390 + Missense_Mutation SNP A A T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:152275390A>T ENST00000368799.1 - 3 12007 c.11972T>A c.(11971-11973)tTt>tAt p.F3991Y FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3991 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGTGTCTAAACCCGGATTC 0.403000 Ichthyosis 6 83 0 0 0.021553 0 0 GLP2R 9340 broad.mit.edu 37 17 9739737 9739737 + Silent SNP T T G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:9739737T>G ENST00000262441.5 + 3 840 c.327T>G c.(325-327)tcT>tcG p.S109S GLP2R_ENST00000574745.1_5'UTR NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 109 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GGCCTCATTCTTCTCCTGGAA 0.418000 12 124 0 0 0.024245 0 0 NBEA 26960 broad.mit.edu 37 13 35672502 35672502 + Missense_Mutation SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:35672502G>T ENST00000540320.1 + 11 2174 c.1640G>T c.(1639-1641)gGt>gTt p.G547V NBEA_ENST00000400445.3_Missense_Mutation_p.G547V|NBEA_ENST00000379939.2_Missense_Mutation_p.G547V|NBEA_ENST00000310336.4_Missense_Mutation_p.G547V Q8NFP9 NBEA_HUMAN neurobeachin 547 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAGATGCTGGGTGGAAAAGGC 0.383000 4 52 0.00116845 0.00129203 0.021553 1 0 FAM134C 162427 broad.mit.edu 37 17 40761280 40761280 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:40761280G>A ENST00000309428.5 - 1 122 c.63C>T c.(61-63)ggC>ggT p.G21G FAM134C_ENST00000543197.1_5'UTR|FAM134C_ENST00000585894.1_Intron NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 21 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) CATCTCGGCGGCCCCTGAAAG 0.716000 4 11 0 0 0.014758 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351251 134351251 + Silent SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:134351251C>T ENST00000357304.4 + 15 3790 c.3735C>T c.(3733-3735)tgC>tgT p.C1245C PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1245 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCGACACATGCGGATCCCGGC 0.592000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 17 0 0 0.021553 0 0 CWC25 54883 broad.mit.edu 37 17 36958457 36958457 + Missense_Mutation SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:36958457C>T ENST00000225428.4 - 10 1463 c.1166G>A c.(1165-1167)cGc>cAc p.R389H CWC25_ENST00000536127.1_Missense_Mutation_p.R326H NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 389 p.R389H(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 CAGCTTCATGCGGCTAGGAAG 0.453000 9 19 0 0 0.080935 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844778 92844778 + Nonsense_Mutation SNP G G C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:92844778G>C ENST00000394468.2 - 3 728 c.651C>G c.(649-651)taC>taG p.Y217* HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.Y205*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.Y205*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.Y240* NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 217 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CCAGGCAGCTGTAATTCCCAA 0.398000 5 69 0 0 0.021553 0 0 DPYD 1806 broad.mit.edu 37 1 98187108 98187108 + Missense_Mutation SNP C C A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:98187108C>A ENST00000370192.3 - 5 541 c.441G>T c.(439-441)gaG>gaT p.E147D DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.E147D|DPYD_ENST00000423006.2_Missense_Mutation_p.E110D NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 147 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TAATGGGTCCCTCTTCAGTGG 0.418000 15 62 1.02788e-11 1.27104e-11 0.033300 1 0 TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:7577536T>C ENST00000420246.2 - 7 877 c.745A>G c.(745-747)Agg>Ggg p.R249G TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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) AGGATGGGCCTCCGGTTCATG 0.567000 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) 16 35 0 0 0.028581 0 0 PDE3A 5139 broad.mit.edu 37 12 20769252 20769252 + Nonsense_Mutation SNP T T A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:20769252T>A ENST00000359062.3 + 4 1398 c.1358T>A c.(1357-1359)tTg>tAg p.L453* PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 453 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTACCCACCTTGGAGCCTGCA 0.557000 7 64 0 0 0.047766 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599245 136599245 + Silent SNP A A C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:136599245A>C ENST00000531224.1 - 4 1026 c.774T>G c.(772-774)ccT>ccG p.P258P BCLAF1_ENST00000353331.4_Silent_p.P256P|BCLAF1_ENST00000392348.2_Silent_p.P256P|BCLAF1_ENST00000527536.1_Silent_p.P258P|BCLAF1_ENST00000527759.1_Silent_p.P256P|BCLAF1_ENST00000530767.1_Silent_p.P258P NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 258 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AATGCTGAGAAGGAGTATTTT 0.453000 3 71 0 0 0.004672 0 0 RAB2B 84932 broad.mit.edu 37 14 21944687 21944687 + Splice_Site SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:21944687C>T ENST00000397762.1 - 2 218 c.118_splice c.e2+1 p.G40_splice RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 40 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) ATGCACTTACCTATTGTGAGG 0.443000 14 20 0 0 0.038395 0 0 COL11A2 1302 broad.mit.edu 37 6 33139548 33139548 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:33139548G>A ENST00000341947.2 - 42 3319 c.3092C>T c.(3091-3093)cCg>cTg p.P1031L COL11A2_ENST00000374712.1_Missense_Mutation_p.P950L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.P945L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1010L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1005L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P924L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P984L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P971L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1031 Triple-helical region. PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.P1031L(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GCGCCCTGGCGGACCAATGGG 0.667000 6 10 0 0 0.021553 0 0 TLN1 7094 broad.mit.edu 37 9 35714249 35714249 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:35714249G>A ENST00000314888.9 - 24 3460 c.3107C>T c.(3106-3108)aCg>aTg p.T1036M TLN1_ENST00000540444.1_Missense_Mutation_p.T1036M NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1036 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGGGCAGCCGTCCGGAGTTC 0.557000 15 44 0 0 0.028581 0 0 HGF 3082 broad.mit.edu 37 7 81372779 81372779 + Missense_Mutation SNP T T G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:81372779T>G ENST00000222390.5 - 7 981 c.755A>C c.(754-756)gAc>gCc p.D252A HGF_ENST00000453411.1_Missense_Mutation_p.D247A|HGF_ENST00000444829.2_Missense_Mutation_p.D252A|HGF_ENST00000457544.2_Missense_Mutation_p.D247A NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 252 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AAAGCCCTTGTCGGGATATCT 0.498000 4 77 0 0 0.014758 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13208 13208 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrM:13208G>A ENST00000361567.2 + 1 872 c.872G>A c.(871-873)tGc>tAc p.C291Y P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 291 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CGCAGCAGTCTGCGCCCTTAC 0.453000 5 371 0 0 0.021553 0 0 MYO9A 4649 broad.mit.edu 37 15 72141239 72141239 + Missense_Mutation SNP C C G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:72141239C>G ENST00000356056.5 - 39 7256 c.6784G>C c.(6784-6786)Gaa>Caa p.E2262Q MYO9A_ENST00000564571.1_Missense_Mutation_p.E2262Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2333Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E2243Q NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2262 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCAGCAAATTCCAAGCTACTG 0.388000 8 34 0 0 0.038147 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686548 125686548 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:125686548G>A ENST00000371126.1 - 1 286 c.44C>T c.(43-45)gCg>gTg p.A15V NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 15 p.A15V(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CGCCTCGACCGCGGGCGCTTT 0.726000 6 13 0 0 0.038147 0 0 GJA8 2703 broad.mit.edu 37 1 147380379 147380379 + Silent SNP C C T rs142426709 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:147380379C>T ENST00000240986.4 + 2 350 c.297C>T c.(295-297)taC>taT p.Y99Y GJA8_ENST00000369235.1_Silent_p.Y99Y NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 99 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CGGTGCACTACGTCCGCATGG 0.652000 19 52 0 0 0.069288 0 0 MOCS3 27304 broad.mit.edu 37 20 49575564 49575564 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:49575564G>A ENST00000244051.1 + 1 202 c.185G>A c.(184-186)cGc>cAc p.R62H NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 62 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 GAGATTCTGCGCTATAGCCGG 0.682000 12 24 0 0 0.049695 0 0 NELL1 4745 broad.mit.edu 37 11 20959354 20959354 + Missense_Mutation SNP A A T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:20959354A>T ENST00000298925.5 + 11 1257 c.1104A>T c.(1102-1104)aaA>aaT p.K368N NELL1_ENST00000532434.1_Missense_Mutation_p.K340N|NELL1_ENST00000325319.5_Missense_Mutation_p.K283N|NELL1_ENST00000357134.5_Missense_Mutation_p.K340N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 340 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.K340N(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ATGGAGGAAAAGTTCTTGCAG 0.403000 9 188 0 0 0.058154 0 0 HSPA5 3309 broad.mit.edu 37 9 128001021 128001021 + Missense_Mutation SNP A A T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:128001021A>T ENST00000324460.6 - 6 1285 c.1082T>A c.(1081-1083)cTt>cAt p.L361H NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 361 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) GCCACCAACAAGAACAATTTC 0.418000 Prostate(1;0.17) 4 28 0 0 0.009096 0 0 METTL25 84190 broad.mit.edu 37 12 82792957 82792957 + Missense_Mutation SNP T T G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:82792957T>G ENST00000248306.3 + 4 984 c.915T>G c.(913-915)aaT>aaG p.N305K METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 AAGAAGAAAATTTGTGTTTTG 0.363000 21 63 0 0 0.069288 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110441625 110441625 + Missense_Mutation SNP G G C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:110441625G>C ENST00000378402.5 + 26 3161 c.3057G>C c.(3055-3057)aaG>aaC p.K1019N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1019 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAGGATAAAGGAAGGTGGCT 0.333000 HNSCC(38;0.096) 5 22 0 0 0.014758 0 0 GAB2 9846 broad.mit.edu 37 11 77937572 77937572 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:77937572G>A ENST00000361507.4 - 4 1231 c.1146C>T c.(1144-1146)gtC>gtT p.V382V GAB2_ENST00000340149.2_Silent_p.V344V NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 382 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TGGTGGCAGCGACAGATCTGC 0.587000 4 68 0 0 0.009096 0 0 ROBO1 6091 broad.mit.edu 37 3 78795962 78795962 + Silent SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:78795962G>T ENST00000436010.2 - 3 1468 c.471C>A c.(469-471)ggC>ggA p.G157G ROBO1_ENST00000495273.1_Silent_p.G157G|ROBO1_ENST00000467549.1_Silent_p.G157G|ROBO1_ENST00000464233.1_Silent_p.G196G Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 196 Ig-like C2-type 1. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCTCAGGATGGCCTCGTGGAG 0.453000 17 70 1.99824e-07 2.39372e-07 0.033300 1 0 MRPL21 219927 broad.mit.edu 37 11 68660338 68660338 + Silent SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:68660338C>T ENST00000567045.1 - 6 553 c.318G>A c.(316-318)ccG>ccA p.P106P MRPL21_ENST00000450904.2_Intron|MRPL21_ENST00000362034.2_Intron Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 0 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGGGCCCAGCGGTACTTTCT 0.522000 3 16 0 0 0.004672 0 0 DSCAM 1826 broad.mit.edu 37 21 41710046 41710046 + Missense_Mutation SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:41710046C>T ENST00000400454.1 - 8 2242 c.1765G>A c.(1765-1767)Gtc>Atc p.V589I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 589 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTCACGTGGACGCTCTGGCTG 0.502000 27 73 0 0 0.054565 0 0 LILRB1 10859 broad.mit.edu 37 19 55142481 55142481 + Missense_Mutation SNP G G A rs114930141 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:55142481G>A ENST00000427581.2 + 1 398 c.65G>A c.(64-66)cGa>cAa p.R22Q LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396331.1_5'UTR|LILRB1_ENST00000396327.3_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 0 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGCCAGCACCGAGGGCTCATC 0.582000 HNSCC(37;0.09) 8 33 0 0 0.047766 0 0 IQGAP3 128239 broad.mit.edu 37 1 156524106 156524106 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:156524106G>A ENST00000361170.2 - 13 1379 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 457 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGGCATCCCGGGCCTCCAGG 0.617000 8 15 0 0 0.093190 0 0 AGTR2 186 broad.mit.edu 37 X 115304268 115304268 + Silent SNP G G T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:115304268G>T ENST00000371906.4 + 3 925 c.735G>T c.(733-735)ggG>ggT p.G245G NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 245 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 ATAGCTATGGGAAGAACAGGA 0.408000 8 160 7.48243e-07 8.7804e-07 0.058154 1 0 CASP14 23581 broad.mit.edu 37 19 15164395 15164395 + Missense_Mutation SNP C C T rs61731993 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:15164395C>T ENST00000427043.3 + 3 438 c.130C>T c.(130-132)Cgg>Tgg p.R44W CASP14_ENST00000221740.1_Missense_Mutation_p.R44W NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 44 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.R44W(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 ACACATGTTTCGGCAGCTGAG 0.532000 5 259 0 0 0.014758 0 0 KCNK6 9424 broad.mit.edu 37 19 38817875 38817875 + Silent SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:38817875C>T ENST00000263372.3 + 3 881 c.774C>T c.(772-774)caC>caT p.H258H NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 258 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CCTTCCGCCACGTGTCCGACC 0.637000 3 8 0 0 0.004672 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 17 0 0 0.014758 0 0 ABCC9 10060 broad.mit.edu 37 12 22012522 22012522 + Silent SNP A A G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:22012522A>G ENST00000261200.4 - 20 2502 c.2503T>C c.(2503-2505)Ttg>Ctg p.L835L RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.L799L|ABCC9_ENST00000261201.4_Silent_p.L835L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 835 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATTCTTACCAAAAAGACAATG 0.428000 7 236 0 0 0.047766 0 0 COCH 1690 broad.mit.edu 37 14 31354229 31354229 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:31354229G>A ENST00000382493.4 + 3 368 c.268G>A c.(268-270)Gaa>Aaa p.E90K RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron|COCH_ENST00000396618.3_Intron|COCH_ENST00000216361.4_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555421.1_RNA O43405 COCH_HUMAN cochlin 244 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CGTTGACTCTGAAGAGAGACT 0.398000 10 102 0 0 0.069234 0 0 PSG5 5673 broad.mit.edu 37 19 43689118 43689118 + Nonsense_Mutation SNP A A C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:43689118A>C ENST00000404580.1 - 2 334 c.246T>G c.(244-246)taT>taG p.Y82* PSG5_ENST00000599812.1_Nonsense_Mutation_p.Y82*|PSG5_ENST00000407568.1_Nonsense_Mutation_p.Y82*|PSG5_ENST00000407356.1_Nonsense_Mutation_p.Y82*|PSG5_ENST00000366175.3_Nonsense_Mutation_p.Y82*|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Nonsense_Mutation_p.Y82* Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 82 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CGTCTACTACATATGATGTAA 0.428000 4 326 0 0 0.021553 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432692 140432692 + Missense_Mutation SNP T T G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:140432692T>G ENST00000306549.3 + 1 1714 c.1637T>G c.(1636-1638)gTt>gGt p.V546G NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 546 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTAGCCAAGTTACTGTCAGA 0.488000 6 31 0 0 0.029380 0 0 TSPEAR 54084 broad.mit.edu 37 21 45941910 45941910 + Silent SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:45941910G>A ENST00000323084.4 - 9 1487 c.1422C>T c.(1420-1422)tcC>tcT p.S474S TSPEAR_ENST00000397916.1_Silent_p.S406S|C21orf90_ENST00000465978.1_Intron NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 474 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CGTAGGCGCCGGAGGTGGCGA 0.607000 7 29 0 0 0.069234 0 0 MYH2 4620 broad.mit.edu 37 17 10432234 10432234 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:10432234G>A ENST00000245503.5 - 27 3901 c.3517C>T c.(3517-3519)Cgg>Tgg p.R1173W MYH2_ENST00000397183.2_Missense_Mutation_p.R1173W|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1173 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCAGCCTCCCGCTTCTTGTTC 0.597000 20 56 0 0 0.037714 0 0 PNPLA5 150379 broad.mit.edu 37 22 44282341 44282341 + Missense_Mutation SNP G G A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr22:44282341G>A ENST00000216177.4 - 6 923 c.791C>T c.(790-792)aCg>aTg p.T264M PNPLA5_ENST00000593866.1_Missense_Mutation_p.T150M|PNPLA5_ENST00000381198.2_Missense_Mutation_p.T150M|PNPLA5_ENST00000597664.1_Missense_Mutation_p.T264M NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 264 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) AGACACCAGCGTCCATAGCAC 0.617000 3 14 0 0 0.021553 0 0 LOC101928460 101928460 broad.mit.edu 37 1 29667663 29667664 + RNA INS - - G rs77252284 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:29667663_29667664insG ENST00000417651.1 - 0 432 GGCATTTCtttgtttttttttt 0.421 4 2 --- --- --- --- RP11-84A19.4 0 broad.mit.edu 37 1 32324916 32324919 + RNA DEL GATA GATA - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:32324916_32324919delGATA ENST00000602889.1 - 0 485 atagatgattgatagatagataga 0.353 7 5 --- --- --- --- AL591415.1 0 broad.mit.edu 37 1 48086773 48086774 + RNA INS - - TCTC rs147557102 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:48086773_48086774insTCTC ENST00000408520.1 - 0 75_76 CTCTCTATATATATATATATAT 0.441 3 3 --- --- --- --- RP11-191G24.1 0 broad.mit.edu 37 1 52002982 52002983 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:52002982_52002983insT ENST00000426017.1 + 0 64 RP11-191G24.1_ENST00000415031.1_RNA gtcttcatcacttttttttaac 0.391 2 4 --- --- --- --- RP4-660H19.1 0 broad.mit.edu 37 1 73297282 73297282 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:73297282delA ENST00000445976.1 - 0 280 tgcaaaactgaacagagaatg 0.423 2 4 --- --- --- --- LOC101928241 101928241 broad.mit.edu 37 1 96814288 96814288 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:96814288delT ENST00000435311.1 - 0 165 taaatttagatttttttttgt 0.308 2 4 --- --- --- --- LOC100129620 100129620 broad.mit.edu 37 1 99585720 99585720 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:99585720delA ENST00000425113.1 + 0 370 NR_033940.1 AACaaaaaagaaaaaaaaaat 0.338 2 4 --- --- --- --- VAV3-AS1 100873946 broad.mit.edu 37 1 108521388 108521389 + RNA INS - - A rs35876111 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:108521388_108521389insA ENST00000438318.1 + 0 62 NR_046653.1 tccatctcaggaaaaaaaaaga 0.460 2 4 --- --- --- --- RP5-965F6.2 0 broad.mit.edu 37 1 112832923 112832924 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:112832923_112832924insA ENST00000427290.1 - 0 167 aaatggaaaacaaaaaaaaagc 0.401 2 4 --- --- --- --- RP5-965F6.2 0 broad.mit.edu 37 1 112847900 112847900 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:112847900delA ENST00000427290.1 - 0 167 ATCTGCAATCAAAAAAGGAGT 0.403 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142672993 142672993 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:142672993delC ENST00000369381.2 - 0 2507 CTGctgaccaccccccactaa 0.517 4 5 --- --- --- --- LOC646268 646268 broad.mit.edu 37 1 158102709 158102710 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:158102709_158102710insT ENST00000414848.1 - 0 221 NR_033946.1 AGTCCACCATGTTTTTTTTCAa 0.421 2 4 --- --- --- --- RP11-550P17.5 0 broad.mit.edu 37 1 159344691 159344692 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:159344691_159344692insA ENST00000431862.1 - 0 227 ccattcaaaggaaaaaaaataa 0.297 2 4 --- --- --- --- LINC00626 79100 broad.mit.edu 37 1 168756802 168756803 + RNA DEL GT GT - rs114189563 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:168756802_168756803delGT ENST00000420691.1 + 0 290 NR_024160.1 CTCAGGAAGGgtgtgtgtgtgt 0.391 3 5 --- --- --- --- RP1-15D23.2 0 broad.mit.edu 37 1 172757221 172757222 + RNA INS - - C rs12083405 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:172757221_172757222insC ENST00000432694.1 + 0 223 gtttccccaggccccaggtagg 0.485 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187086279 187086280 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:187086279_187086280insA ENST00000458683.1 + 0 105 ATTTATCACATAAAAAGTTACA 0.376 2 4 --- --- --- --- RP11-669M2.1 0 broad.mit.edu 37 1 188503712 188503714 + RNA DEL CTT CTT - rs4067535 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:188503712_188503714delCTT ENST00000426262.1 + 0 310 taaaaaagaacttctatatgctc 0.281 5 1 --- --- --- --- RP11-398M15.1 0 broad.mit.edu 37 1 189750992 189750992 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:189750992delG ENST00000419614.1 + 0 179 ccagccacatgggaaaagttc 0.473 2 4 --- --- --- --- PROX1-AS1 100505832 broad.mit.edu 37 1 214144858 214144859 + RNA INS - - A rs71165941 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr1:214144858_214144859insA ENST00000601744.1 - 0 111 PROX1-AS1_ENST00000451396.2_RNA|PROX1-AS1_ENST00000598091.1_RNA|PROX1-AS1_ENST00000601854.1_RNA TCACCAAAATTAAAAAAAAAAT 0.351 2 4 --- --- --- --- AC018685.1 0 broad.mit.edu 37 2 2652475 2652477 + RNA DEL AAA AAA - rs67265772 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:2652475_2652477delAAA ENST00000414065.1 - 0 135 actctgtctcaaaaaaaaaaaaa 0.404 2 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14452442 14452442 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:14452442delT ENST00000418420.1 - 0 251 NR_103814.1 GACAAAAAGCTTACACAACAG 0.383 2 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14518374 14518375 + RNA DEL AA AA - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:14518374_14518375delAA ENST00000418420.1 - 0 116 NR_103814.1 caagcatgcgaaaaaaaaaaag 0.356 2 4 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16562884 16562884 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:16562884delA ENST00000427950.1 + 0 83 atgcttgagcaaagacttgaa 0.473 2 4 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16581754 16581754 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:16581754delG ENST00000427950.1 + 0 157 CAACCGCACAGGGGATTTTCC 0.567 2 4 --- --- --- --- LOC728730 728730 broad.mit.edu 37 2 39804609 39804609 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:39804609delA ENST00000449569.1 + 0 538 AC007246.3_ENST00000425775.1_RNA|AC007246.3_ENST00000438649.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000451547.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000415640.1_RNA NR_037875.1 atattggtctaaagttctctt 0.408 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51898117 51898118 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:51898117_51898118insT ENST00000440698.1 + 0 753 ATGCTTCTCAATTTTTTGTCTC 0.386 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52067936 52067937 + RNA DEL TT TT - rs147170245 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:52067936_52067937delTT ENST00000440698.1 + 0 839 tttttcattcttttttttttaa 0.366 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52223942 52223943 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:52223942_52223943insC ENST00000440698.1 + 0 879 CTCCACTGCAGCCCCAAGCCCT 0.411 2 4 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 59225237 59225238 + RNA INS - - G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:59225237_59225238insG ENST00000452840.1 + 0 815 CGTAGGCTAATGGGGGAAAATA 0.332 2 4 --- --- --- --- LOC101927285 101927285 broad.mit.edu 37 2 59463316 59463317 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:59463316_59463317insC ENST00000409590.1 + 0 67 RP11-444A22.1_ENST00000606382.1_lincRNA ATCTCTCCCCTCCCCCCACTGT 0.386 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59839749 59839750 + RNA INS - - T rs61027448 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:59839749_59839750insT ENST00000606382.1 - 0 236 aactcttctacttttttttttt 0.292 4 2 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59916136 59916136 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:59916136delA ENST00000606382.1 - 0 236 gaacttaaataaaaaaaaaaa 0.363 2 4 --- --- --- --- LOC100507073 100507073 broad.mit.edu 37 2 66890462 66890463 + RNA DEL TG TG - rs34214494 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:66890462_66890463delTG ENST00000433396.1 + 0 136 TTCTTTCTTCTGTGTGTCAACA 0.416 5 1 --- --- --- --- PCBP1-AS1 400960 broad.mit.edu 37 2 70243994 70243995 + RNA INS - - A rs34269434 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:70243994_70243995insA ENST00000435880.2 - 0 651 PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000601431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000594376.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA NR_033872.1 caccaagggagaaaaaaaaaaa 0.411 3 5 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 87780484 87780485 + RNA INS - - AC TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:87780484_87780485insAC ENST00000409054.1 + 0 278 NR_015395.1 aaaaACCAAATacacacacaca 0.376 4 4 --- --- --- --- LOC101928371 101928371 broad.mit.edu 37 2 88848608 88848608 + RNA DEL T T - rs11347188 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:88848608delT ENST00000413234.1 + 0 650 ctttctttccttttttttttt 0.443 2 4 --- --- --- --- AC108051.1 0 broad.mit.edu 37 2 103586073 103586073 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:103586073delT ENST00000431897.1 - 0 221 AATATATTCATTTTGGAATTA 0.303 2 4 --- --- --- --- AC023347.1 0 broad.mit.edu 37 2 127094586 127094587 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:127094586_127094587insA ENST00000435352.1 + 0 373 aaatggaaaacaaaaaaaaaga 0.351 3 4 --- --- --- --- AC097532.2 0 broad.mit.edu 37 2 133050246 133050246 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:133050246delT ENST00000440802.1 - 0 60 tttctggctgttttttttttg 0.294 2 4 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154287662 154287662 + RNA DEL A A - rs79784572 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:154287662delA ENST00000424322.1 - 0 429 agactctgtcaaaaaaaaaaa 0.393 2 4 --- --- --- --- AC016723.4 0 broad.mit.edu 37 2 168784710 168784711 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:168784710_168784711insA ENST00000436982.2 - 0 36 actctgtctagaaaaaaaaaga 0.436 2 4 --- --- --- --- AC007319.1 0 broad.mit.edu 37 2 188161212 188161213 + RNA DEL AT AT - rs146893991 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:188161212_188161213delAT ENST00000412276.1 + 0 189 AC007319.1_ENST00000453517.1_RNA ctctcacaacatgtgggaatta 0.401 6 0 --- --- --- --- AOX2P 344454 broad.mit.edu 37 2 201642230 201642230 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:201642230delT ENST00000467645.1 + 0 757 NR_001557.4 tgtcatggactttggagtcac 0.408 2 4 --- --- --- --- AC107218.3 0 broad.mit.edu 37 2 215528714 215528714 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:215528714delG ENST00000437883.1 - 0 132 AC107218.3_ENST00000412896.1_RNA agaccatcctggctaacatgg 0.547 2 4 --- --- --- --- AC012668.1 0 broad.mit.edu 37 2 216400352 216400353 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:216400352_216400353insT ENST00000431727.2 - 0 323 ATTTTATACTCTTTTTAAGCAA 0.257 2 4 --- --- --- --- AC114765.1 0 broad.mit.edu 37 2 221184136 221184137 + RNA INS - - A rs34635617 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:221184136_221184137insA ENST00000432993.1 + 0 306 actccatctccaaaaaaaaaaa 0.406 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221356582 221356583 + RNA INS - - TTCA rs71916627 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:221356582_221356583insTTCA ENST00000414512.1 + 0 368 ACTTCAAAGGCTTCAGCAGCCT 0.446 2 4 --- --- --- --- AC010149.4 0 broad.mit.edu 37 2 231436150 231436150 + RNA DEL C C - rs59237846 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:231436150delC ENST00000455357.1 - 0 361 AC010149.4_ENST00000414539.1_RNA ctaaagcagaccttctgcctg 0.547 4 3 --- --- --- --- AC079135.1 0 broad.mit.edu 37 2 237200946 237200946 + RNA DEL T T - rs112406422 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:237200946delT ENST00000415226.1 + 0 397 TTGCAAAGTATTTTTTTTTTT 0.448 3 5 --- --- --- --- LINC01107 151171 broad.mit.edu 37 2 239429671 239429672 + RNA INS - - TGG rs140915729 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr2:239429671_239429672insTGG ENST00000446979.1 - 0 718 NR_037809.1 ggtgatggtgatggtggtaata 0.500 2 4 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12063578 12063578 + RNA DEL A A - rs76652649 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:12063578delA ENST00000432424.2 + 0 549 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 gctctgtgtcaaaaaaaaaaa 0.458 3 3 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12075006 12075006 + RNA DEL T T - rs10708432 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:12075006delT ENST00000432424.2 + 0 549 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TGGGACTCTCTTTTTTCCCAA 0.363 3 3 --- --- --- --- AC133680.1 0 broad.mit.edu 37 3 25007601 25007603 + RNA DEL TTG TTG - rs137918326 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:25007601_25007603delTTG ENST00000455576.1 + 0 345 TTTTTTTTTTTTGGTTATTTTAG 0.315 4 2 --- --- --- --- LINC00693 645206 broad.mit.edu 37 3 28722769 28722769 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:28722769delG ENST00000432518.2 + 0 809 LINC00693_ENST00000443912.1_RNA|LINC00693_ENST00000445077.1_RNA NR_038840.1 AAAAAAAAAAGAGGATCAGAG 0.353 2 4 --- --- --- --- AC136289.1 0 broad.mit.edu 37 3 63794640 63794641 + RNA INS - - T rs142219338 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:63794640_63794641insT ENST00000443346.1 - 0 622 AATTAATGTGCTTTTTTTTTTC 0.431 2 4 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98066005 98066005 + RNA DEL G G - rs9877169 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:98066005delG ENST00000508616.1 + 0 188 gtataaaaaagcagatgtaca 0.343 2 4 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98167086 98167087 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:98167086_98167087insT ENST00000508616.1 + 0 188 cccgcctccccttttttttgga 0.495 2 4 --- --- --- --- LINC00882 100302640 broad.mit.edu 37 3 106747064 106747064 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:106747064delC ENST00000484698.1 - 0 337 TTGTTTCCCTCCTCTAGTTTG 0.388 2 4 --- --- --- --- RP11-572M11.4 0 broad.mit.edu 37 3 112854400 112854400 + RNA DEL T T - rs66679290 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:112854400delT ENST00000496389.1 + 0 399 AATGGTCATATTTTTTCCTTC 0.343 3 3 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 117769762 117769762 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:117769762delT ENST00000482142.1 - 0 655 ttcggtcgtgttttttttggt 0.308 2 4 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151504748 151504749 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:151504748_151504749insA ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA ttgttactaacaaaaactatac 0.347 2 4 --- --- --- --- RP11-550I24.2 0 broad.mit.edu 37 3 156902568 156902568 + RNA DEL T T - rs79457921 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:156902568delT ENST00000488040.1 + 0 43 RP11-550I24.2_ENST00000487238.1_RNA tcttcttttcttttttttttg 0.453 3 3 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177233703 177233705 + RNA DEL AAC AAC - rs72185566 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr3:177233703_177233705delAAC ENST00000442937.1 + 0 190 NR_047568.1 TAGTAATGATAACAATGATGATG 0.320 5 1 --- --- --- --- LINC00504 201853 broad.mit.edu 37 4 14559293 14559294 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:14559293_14559294insT ENST00000505089.1 - 0 461 AGttttataaatttttttattc 0.337 2 4 --- --- --- --- LOC101928851 101928851 broad.mit.edu 37 4 58311718 58311718 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:58311718delG ENST00000510956.1 + 0 544 CAGTAGGGCTGGCTTCGTTTT 0.443 2 4 --- --- --- --- RP11-725D20.1 0 broad.mit.edu 37 4 60479096 60479096 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:60479096delA ENST00000504537.1 - 0 114 acaacaagtgaaaacaatgtg 0.269 2 4 --- --- --- --- RP11-542G1.1 0 broad.mit.edu 37 4 76263298 76263298 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:76263298delA ENST00000505930.1 - 0 41 atgctatactaagaaacttgc 0.368 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105595926 105595927 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:105595926_105595927insT ENST00000500179.1 + 0 733 RP11-556I14.2_ENST00000515127.1_lincRNA aacatctgtcattttttggcct 0.337 2 4 --- --- --- --- RP11-659O3.1 0 broad.mit.edu 37 4 117028647 117028648 + RNA DEL TG TG - rs33917291 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:117028647_117028648delTG ENST00000509983.1 - 0 333 GAACAGATGTtgtgtgtgtgtg 0.386 2 4 --- --- --- --- LINC01256 104355285 broad.mit.edu 37 4 133545714 133545715 + RNA INS - - TAA rs113095241 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:133545714_133545715insTAA ENST00000513270.1 + 0 188 ccttctcctccttctcctcctc 0.495 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 143972400 143972400 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:143972400delA ENST00000507826.1 - 0 354 CACAGAAAAGAAAAATGgcac 0.408 2 4 --- --- --- --- RP11-164P12.4 0 broad.mit.edu 37 4 152588541 152588542 + RNA INS - - C rs1366910 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:152588541_152588542insC ENST00000508664.1 + 0 92 GTTGACTCTTTCCCCCCCTTCT 0.386 2 4 --- --- --- --- LOC101928509 101928509 broad.mit.edu 37 4 175057640 175057640 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr4:175057640delG ENST00000515444.1 - 0 85 RP11-248N22.1_ENST00000511346.1_lincRNA TTTTCAACTTGGAACTTTTAT 0.308 2 4 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9670204 9670205 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:9670204_9670205insA ENST00000511616.1 - 0 1344 NR_027112.2 cacagaaatacaaaaaaaccct 0.327 2 4 --- --- --- --- RP11-124N3.3 0 broad.mit.edu 37 5 18968897 18968897 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:18968897delT ENST00000504827.1 - 0 289 cTGTACtttgtttttttttga 0.517 2 4 --- --- --- --- CTD-2023N9.1 0 broad.mit.edu 37 5 56711474 56711474 + RNA DEL C C - rs5868053 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:56711474delC ENST00000506106.1 + 0 119 ACCCTCATAGCTTTTACTCAA 0.443 3 5 --- --- --- --- LINC01331 104310351 broad.mit.edu 37 5 73724012 73724015 + RNA DEL CAAA CAAA - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:73724012_73724015delCAAA ENST00000507781.1 - 0 422 gactccgtctcaaacaaacaaaca 0.446 2 4 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104667316 104667318 + RNA DEL AGG AGG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:104667316_104667318delAGG ENST00000503650.1 - 0 210 gagaaggagaaggaggaggagga 0.581 2 4 --- --- --- --- STARD4-AS1 100505678 broad.mit.edu 37 5 110980395 110980396 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:110980395_110980396insA ENST00000500779.2 + 0 283 NR_040093.1 GTAGCAGTTGCAAAAACTGATT 0.322 2 4 --- --- --- --- APC 324 broad.mit.edu 37 5 112175212 112175216 + Frame_Shift_Del DEL AAAAG AAAAG - rs121913224 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:112175212_112175216delAAAAG ENST00000457016.1 + 16 4301_4305 c.3921_3925delAAAAG c.(3919-3927)ataafs p.IKE1307fs APC_ENST00000508376.2_Frame_Shift_Del_p.IKE1307fs|APC_ENST00000257430.4_Frame_Shift_Del_p.IKE1307fs|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1307 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. I -> K (in 6% of Ashkenazi Jews; associated with slightly increased risk of colon and breast cancer; dbSNP:rs1801155). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1309fs*6(51)|p.E1309fs*4(42)|p.E1309*(25)|p.I1307fs*6(12)|p.K1308*(6)|p.I1307fs*7(2)|p.I1311fs*4(2)|p.K1308fs*6(1)|p.I1307fs*13(1)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1309K(1)|p.K1308E(1)|p.K1308fs*4(1)|p.I1307fs*14(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TAGCAGAAATAAAAGAAAAGATTGG 0.424 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 15 38 --- --- --- --- CTC-575N7.1 0 broad.mit.edu 37 5 129161960 129161961 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:129161960_129161961insA ENST00000503616.1 - 0 121 CTC-575N7.1_ENST00000515569.1_RNA gcagtggcaacaaaaacaaaaa 0.327 2 4 --- --- --- --- CTC-255N20.1 0 broad.mit.edu 37 5 146589843 146589843 + RNA DEL A A - rs72094038 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:146589843delA ENST00000504297.1 - 0 147 CTTTATGGCTaaaaaaaaaaa 0.328 2 4 --- --- --- --- LOC102546294 102546294 broad.mit.edu 37 5 147685319 147685320 + RNA DEL TG TG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:147685319_147685320delTG ENST00000501695.3 - 0 591 AGCTGGGAGCtgtgtgtgtgtg 0.455 3 4 --- --- --- --- LOC102546299 102546299 broad.mit.edu 37 5 163788130 163788131 + RNA INS - - G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:163788130_163788131insG ENST00000486913.3 + 0 85 CTC-340A15.2_ENST00000524297.1_RNA|CTC-340A15.2_ENST00000523648.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522686.1_RNA|CTC-340A15.2_ENST00000519329.1_RNA TCATTTGAGGAGGGGGGACTTT 0.356 2 4 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 164780258 164780259 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:164780258_164780259insT ENST00000522189.1 + 0 21 AGTCAACTTGATAGTGACGTTT 0.347 7 1 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 165106263 165106264 + RNA INS - - T rs72549517 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:165106263_165106264insT ENST00000522189.1 + 0 21 aAGAGGTACTCTTTTTTTTTCC 0.322 3 4 --- --- --- --- CTD-2532K18.1 0 broad.mit.edu 37 5 174275132 174275133 + RNA INS - - TTTG rs57912892 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:174275132_174275133insTTTG ENST00000502684.1 + 0 164 GTCtttgtttttttgtttgttt 0.366 2 4 --- --- --- --- RP11-443C10.1 0 broad.mit.edu 37 5 178804762 178804765 + RNA DEL CATC CATC - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr5:178804762_178804765delCATC ENST00000519603.1 - 0 390_393 RP11-443C10.2_ENST00000520163.1_lincRNA CAGAGCTCAGCATCCAAACCAGTG 0.608 2 4 --- --- --- --- RP11-532F6.4 0 broad.mit.edu 37 6 736946 736947 + RNA INS - - G rs114788612 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:736946_736947insG ENST00000607644.1 + 0 243 TCTTCTCTTCTGGGGGGTGGCC 0.574 2 4 --- --- --- --- RP1-167F1.2 0 broad.mit.edu 37 6 19807958 19807959 + RNA INS - - AG rs111388601 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:19807958_19807959insAG ENST00000432171.2 - 0 263 caaaaaaaaaaaggggagagag 0.450 4 2 --- --- --- --- LOC101929006 101929006 broad.mit.edu 37 6 29228332 29228332 + RNA DEL C C - rs144062472 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:29228332delC ENST00000441381.1 + 0 79 TGGTAGGTTACCCAAATATTG 0.413 3 3 --- --- --- --- LOC101928516 101928516 broad.mit.edu 37 6 74849761 74849762 + RNA INS - - G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:74849761_74849762insG ENST00000435946.1 + 0 138 TGACCAATTTTGGGGGGAAGCA 0.475 2 4 --- --- --- --- RP11-624M8.1 0 broad.mit.edu 37 6 125987549 125987550 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:125987549_125987550insA ENST00000451660.2 - 0 443 RP11-624M8.1_ENST00000606334.1_RNA|RP11-624M8.1_ENST00000427852.2_RNA tgtatctctacaaaaaaagaaa 0.441 3 4 --- --- --- --- LINC00271 100131814 broad.mit.edu 37 6 135992386 135992386 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:135992386delA ENST00000421378.2 + 0 231 NR_026805.1 ggatatcatcaaaaaaaaaaa 0.343 3 4 --- --- --- --- RP11-631F7.2 0 broad.mit.edu 37 6 148457008 148457009 + RNA INS - - A rs71552995 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:148457008_148457009insA ENST00000417838.1 - 0 96 ccatctctaccaaaaaaaaaat 0.490 2 4 --- --- --- --- LINC00473 90632 broad.mit.edu 37 6 166401465 166401466 + RNA DEL GT GT - rs71733419 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr6:166401465_166401466delGT ENST00000584911.1 - 0 70_71 gtgtgcgtgcgtgtgtgtgtgt 0.550 3 3 --- --- --- --- LOC101927630 101927630 broad.mit.edu 37 7 17582560 17582569 + RNA DEL ACACACACAC ACACACACAC - rs72313277 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:17582560_17582569delACACACACAC ENST00000451792.1 - 0 158 CCTCAAATGTacacacacacacacacacac 0.395 2 4 --- --- --- --- AC004869.2 0 broad.mit.edu 37 7 46518202 46518203 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:46518202_46518203insC ENST00000440935.1 - 0 418 GTCTAACACATCCCCCCAACCC 0.436 2 4 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72157791 72157791 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:72157791delG ENST00000438125.1 - 0 1120 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 TCCAAAATCTGGGGAGACAGT 0.473 2 4 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101126481 101126481 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:101126481delT ENST00000313669.7 + 0 577 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 AGAAATTAGCttttttttttt 0.463 2 4 --- --- --- --- AC073130.3 0 broad.mit.edu 37 7 115902660 115902661 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:115902660_115902661insT ENST00000444244.1 - 0 65 AC002066.1_ENST00000446355.2_RNA ttttttttttctttttcttttt 0.366 2 4 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 135793838 135793839 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:135793838_135793839insC ENST00000445293.2 + 0 112 gtgtgtgatgacccccccaact 0.475 2 4 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156283174 156283174 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr7:156283174delA ENST00000447933.1 - 0 300 tctaaatgccaaaggaaaatc 0.343 2 4 --- --- --- --- RP11-13N12.1 0 broad.mit.edu 37 8 16629680 16629680 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:16629680delA ENST00000521411.2 - 0 373 ATTCTCAAAGAAAAAAAAACA 0.383 2 4 --- --- --- --- RP11-175E9.1 0 broad.mit.edu 37 8 23631110 23631110 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:23631110delT ENST00000523874.1 + 0 75 atctgaaggatttttttttgt 0.403 2 4 --- --- --- --- RP11-962G15.1 0 broad.mit.edu 37 8 36595158 36595159 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:36595158_36595159insA ENST00000524132.1 - 0 411 gactccgtcccaaaaaaaaaaa 0.436 2 4 --- --- --- --- LOC101929268 101929268 broad.mit.edu 37 8 49468414 49468414 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:49468414delC ENST00000522575.1 + 0 356 RP11-567J20.2_ENST00000524011.1_lincRNA gcttttttttcccccccaggt 0.448 2 4 --- --- --- --- ZFHX4-AS1 100192378 broad.mit.edu 37 8 77546851 77546852 + RNA INS - - A rs141628118 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:77546851_77546852insA ENST00000518143.1 - 0 434 ZFHX4-AS1_ENST00000522961.1_RNA NR_024360.1 agtaaaaccacatgagataaca 0.317 4 2 --- --- --- --- RP13-923O23.6 0 broad.mit.edu 37 8 82705244 82705244 + RNA DEL A A - rs71268025 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:82705244delA ENST00000524337.1 + 0 103 CCCTTGAGGGAAAAAAATACC 0.289 4 2 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96423190 96423190 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:96423190delT ENST00000521905.1 + 0 126 ACAGAGTACCTTTTTCCCTTA 0.488 2 4 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96636047 96636048 + RNA DEL AG AG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:96636047_96636048delAG ENST00000521905.1 + 0 320 agcaggagcaagagagagagag 0.495 2 4 --- --- --- --- LOC101927487 101927487 broad.mit.edu 37 8 112224423 112224423 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:112224423delC ENST00000522778.1 - 0 122 gacttggcctcccaaagtgct 0.393 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130478551 130478552 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:130478551_130478552insA ENST00000446592.3 - 0 360 TCCTTAAGAACAAAAAAACTCA 0.366 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130620937 130620937 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:130620937delC ENST00000446592.3 - 0 312 tatgtcctatccccccaaggg 0.527 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130621556 130621556 + RNA DEL T T - rs60793560 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr8:130621556delT ENST00000446592.3 - 0 312 cattaaattatttctatttct 0.338 3 4 --- --- --- --- VLDLR-AS1 401491 broad.mit.edu 37 9 2535362 2535362 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:2535362delT ENST00000416826.2 - 0 434 TCAACCAAGATTTTGCATCTC 0.318 2 4 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21490549 21490549 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:21490549delC ENST00000304425.3 - 0 181 NR_027054.1 ggggtagagacaaggagagaa 0.577 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68407616 68407616 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:68407616delA ENST00000417843.2 - 0 67 tggatcaagcagaagaaatag 0.343 3 6 --- --- --- --- GGTA1P 2681 broad.mit.edu 37 9 124221741 124221742 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:124221741_124221742insA ENST00000495328.1 - 0 684 aaaatcaaatgaaaaaaaaGGA 0.455 2 4 --- --- --- --- ABO 28 broad.mit.edu 37 9 136137176 136137176 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr9:136137176delG ENST00000453660.2 - 0 110 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TTCTGTGTCTGGAAGCGACTA 0.592 2 4 --- --- --- --- RP11-556E13.1 0 broad.mit.edu 37 10 54346014 54346015 + RNA DEL TG TG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:54346014_54346015delTG ENST00000443523.1 - 0 100 ctctccattttgtgtgtgtgtg 0.302 2 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65635544 65635545 + RNA INS - - T rs71028539 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:65635544_65635545insT ENST00000444770.1 + 0 494 accattctgtctttttttaaaa 0.361 2 4 --- --- --- --- ZMIZ1-AS1 283050 broad.mit.edu 37 10 80732044 80732045 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:80732044_80732045insC ENST00000456353.1 - 0 1012 NR_024431.2 ccaactacctgcccccccgAAG 0.584 2 4 --- --- --- --- RP11-282I1.1 0 broad.mit.edu 37 10 125195451 125195452 + RNA DEL CT CT - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr10:125195451_125195452delCT ENST00000448347.1 + 0 586 gtttttcttcctctctctctct 0.535 2 4 --- --- --- --- CTC-497E21.5 0 broad.mit.edu 37 11 13110241 13110242 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:13110241_13110242insA ENST00000531136.1 - 0 47 aaattttcaagaaaaaaaaaaa 0.366 4 2 --- --- --- --- RP11-222N13.1 0 broad.mit.edu 37 11 15941432 15941432 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:15941432delG ENST00000530418.1 + 0 217 gattacaggtgcccaccacca 0.517 2 4 --- --- --- --- RP11-266A24.1 0 broad.mit.edu 37 11 23213904 23213905 + RNA INS - - AAGTATGGAAGAAGT rs150194367 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:23213904_23213905insAAGTATGGAAGAAGT ENST00000533591.1 + 0 476_477 agatgaagaagaagtatggaag 0.347 5 3 --- --- --- --- BDNF-AS 497258 broad.mit.edu 37 11 27579380 27579380 + RNA DEL A A - rs5790658 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:27579380delA ENST00000499008.3 + 0 144 BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA NR_002832.2 aaattactctaagagaaaatg 0.393 4 3 --- --- --- --- RP11-115J23.1 0 broad.mit.edu 37 11 29051534 29051535 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:29051534_29051535insC ENST00000513853.1 + 0 304 TCCTCATTAGTCCCCCTGCCTA 0.366 2 4 --- --- --- --- CTD-2572N17.1 0 broad.mit.edu 37 11 42241102 42241103 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:42241102_42241103insA ENST00000527757.1 - 0 354 aaagacacatcaaaaaaaaaaa 0.337 2 4 --- --- --- --- OR4C5 79346 broad.mit.edu 37 11 48387945 48387946 + Frame_Shift_Ins INS - - CA rs114053360 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:48387945_48387946insCA ENST00000319813.3 - 1 71_72 c.72_73insTG c.(70-75)ttagcafs p.LA24fs olfactory receptor, family 4, subfamily C, member 5 TTCACTTGCTCGAAATCCAGTT 0.366 4 7 --- --- --- --- LOC100506368 100506368 broad.mit.edu 37 11 86692271 86692271 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:86692271delC ENST00000499504.3 + 0 139 NR_038905.1 TGTTTCTTTTCCCCAGCACCA 0.532 2 4 --- --- --- --- RP11-94P11.4 0 broad.mit.edu 37 11 105352019 105352019 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:105352019delG ENST00000528811.1 - 0 96 catgagatttgggagaagaca 0.448 2 4 --- --- --- --- RP11-262A12.1 0 broad.mit.edu 37 11 109673839 109673840 + RNA DEL AA AA - rs146084802 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:109673839_109673840delAA ENST00000534252.2 - 0 393 gacaaagcagaaaaaaaaaaaa 0.401 4 2 --- --- --- --- AP000797.3 0 broad.mit.edu 37 11 115611339 115611339 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr11:115611339delT ENST00000539305.1 + 0 163 AGAATAGGACTTTTTTTTCTA 0.388 2 4 --- --- --- --- LINC00937 389634 broad.mit.edu 37 12 8475132 8475132 + RNA DEL T T - rs34773514 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:8475132delT ENST00000544461.1 - 0 1081 RP11-90D4.3_ENST00000535746.1_lincRNA|RP11-113C12.4_ENST00000537764.1_RNA gaagtgtttcttttttttttt 0.363 3 3 --- --- --- --- RP11-415I12.3 0 broad.mit.edu 37 12 64128049 64128050 + RNA DEL TG TG - rs10615637 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:64128049_64128050delTG ENST00000509615.2 - 0 238 ATTATATATAtgtgtgtgtgtg 0.371 2 4 --- --- --- --- LOC100507065 100507065 broad.mit.edu 37 12 65999609 65999611 + RNA DEL TAT TAT - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:65999609_65999611delTAT ENST00000546198.1 - 0 203 RP11-221N13.3_ENST00000541391.1_lincRNA taggtattagtattattattatt 0.340 2 4 --- --- --- --- IFNG-AS1 100885789 broad.mit.edu 37 12 68591955 68591960 + RNA DEL TTGTTG TTGTTG - rs3052116 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:68591955_68591960delTTGTTG ENST00000536914.1 + 0 336 GCTTTTGAGTttgttgttgttgttgt 0.427 2 4 --- --- --- --- LOC101928002 101928002 broad.mit.edu 37 12 70119607 70119608 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:70119607_70119608insT ENST00000501387.1 - 0 415 RP11-588G21.2_ENST00000501300.1_RNA tctactaaaaatacaaaatatt 0.510 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 75966755 75966756 + RNA DEL GT GT - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:75966755_75966756delGT ENST00000552856.1 - 0 549 gcatctgtgcgtgtgtgtgtgt 0.446 4 9 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76029026 76029026 + RNA DEL A A - rs58638346 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:76029026delA ENST00000552856.1 - 0 401 AGGTCTCTGTAAAAAAAAAAA 0.368 2 4 --- --- --- --- RP11-541G9.1 0 broad.mit.edu 37 12 97436963 97436964 + RNA INS - - T rs34142915 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:97436963_97436964insT ENST00000552238.1 + 0 39 RP11-397H6.1_ENST00000549896.1_lincRNA agattgcgccattgcactccag 0.460 2 4 --- --- --- --- RP11-328J6.1 0 broad.mit.edu 37 12 103526102 103526126 + RNA DEL CTGGGGTCCTGAAATGGCTCCCTAA CTGGGGTCCTGAAATGGCTCCCTAA - rs111481333 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:103526102_103526126delCTGGGGTCCTGAAATGGCTCCCTAA ENST00000548594.1 - 0 167 RP11-328J6.1_ENST00000548415.1_RNA cagggcttggctggggtcctgaaatggctccctaacatgggaaaa 0.489 3 6 --- --- --- --- LOC101927592 101927592 broad.mit.edu 37 12 127535785 127535785 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:127535785delC ENST00000512624.2 - 0 311 gatgatctgtcactgtctccc 0.443 2 4 --- --- --- --- LINC01257 116437 broad.mit.edu 37 12 131665968 131665968 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr12:131665968delA ENST00000376678.2 + 0 220 NR_026670.2 ataatataacaaaaaaagaaa 0.323 2 4 --- --- --- --- PDX1-AS1 100861550 broad.mit.edu 37 13 28409374 28409374 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:28409374delA ENST00000499662.2 - 0 770 ccagtcatgtaaaagtgtagc 0.368 2 4 --- --- --- --- LINC00371 647166 broad.mit.edu 37 13 51670717 51670717 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:51670717delA ENST00000563710.1 - 0 147 TACTATATACAATCATTTCAA 0.313 2 4 --- --- --- --- RP11-538C21.1 0 broad.mit.edu 37 13 58787682 58787683 + RNA INS - - T rs5803869 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:58787682_58787683insT ENST00000454780.2 - 0 669 AAAGCATTAGGTTTTTTTTTTG 0.272 3 3 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78953065 78953066 + RNA DEL GG GG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:78953065_78953066delGG ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606376.1_RNA gtctatttatggattcattcca 0.297 2 4 --- --- --- --- RP11-30L8.1 0 broad.mit.edu 37 13 86681329 86681330 + RNA INS - - TATC rs36056138 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:86681329_86681330insTATC ENST00000445967.1 + 0 148 atccatCACTTtatctatctat 0.307 3 3 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101571441 101571441 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr13:101571441delG ENST00000457843.1 + 0 141 NR_047687.1 tccataacgtggagtggagaa 0.254 2 4 --- --- --- --- RP11-146E13.4 0 broad.mit.edu 37 14 19818287 19818287 + RNA DEL C C - rs111887361 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:19818287delC ENST00000548109.1 + 0 72 gcatgagacacgcaccaccac 0.453 3 3 --- --- --- --- RP11-244H18.3 0 broad.mit.edu 37 14 20108320 20108320 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:20108320delG ENST00000551144.1 + 0 616 RP11-597A11.1_ENST00000548261.1_RNA TTAAGATTAAGGGGAAAAAAA 0.338 2 4 --- --- --- --- RP11-384J4.2 0 broad.mit.edu 37 14 27454059 27454059 + RNA DEL A A - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:27454059delA ENST00000552303.1 + 0 205 CTCAAATTATAAAAAAGCTAT 0.308 2 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 28054971 28054972 + RNA DEL TA TA - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:28054971_28054972delTA ENST00000553392.1 - 0 262 tacatgcaggtatatatataca 0.282 2 4 --- --- --- --- RP11-129M6.1 0 broad.mit.edu 37 14 41436438 41436441 + RNA DEL AAAC AAAC - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:41436438_41436441delAAAC ENST00000515218.2 + 0 108 gtctccaagaaaacaaacaaacaa 0.451 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44650325 44650325 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:44650325delT ENST00000553827.1 - 0 69 AAAATGTTACTTTTTTTTTCC 0.358 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44706419 44706420 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:44706419_44706420insC ENST00000553827.1 - 0 69 tcctgaggcctccccagtcatg 0.441 2 4 --- --- --- --- CTD-2277K2.1 0 broad.mit.edu 37 14 62384402 62384402 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:62384402delT ENST00000554436.1 + 0 482 tgagttggacttttttttgtc 0.323 2 4 --- --- --- --- RP11-1152H15.1 0 broad.mit.edu 37 14 88180073 88180074 + RNA DEL AC AC - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:88180073_88180074delAC ENST00000554305.1 - 0 454 acacacacagacacacacacac 0.391 3 5 --- --- --- --- LOC100129345 100129345 broad.mit.edu 37 14 98114359 98114360 + RNA DEL AG AG - rs1756606 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr14:98114359_98114360delAG ENST00000355909.3 - 0 414 NR_033943.1 acagacacacagacacacacac 0.371 3 4 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 35879914 35879915 + RNA DEL TG TG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:35879914_35879915delTG ENST00000501169.2 + 0 279 NR_038251.1 ATTGTGAGCATGTGTGTGTGTG 0.406 2 4 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 36044558 36044558 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:36044558delC ENST00000501169.2 + 0 462 NR_038251.1 ctccctccctcccttcctccc 0.532 2 4 --- --- --- --- RP11-1129I3.1 0 broad.mit.edu 37 15 56852469 56852469 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:56852469delT ENST00000562300.1 - 0 439 catttctttcttttttttttc 0.448 3 6 --- --- --- --- LINC01314 100996492 broad.mit.edu 37 15 80531591 80531591 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:80531591delC ENST00000560778.2 - 0 207 GTCTCTTGCTCCCCACCTCTC 0.537 2 4 --- --- --- --- LINC01581 101927112 broad.mit.edu 37 15 94593766 94593766 + RNA DEL A A - rs5814631 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:94593766delA ENST00000558874.1 - 0 1141 atcaaaaggcaaaaaaaaaaa 0.333 4 2 --- --- --- --- LOC101927286 101927286 broad.mit.edu 37 15 97947065 97947065 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:97947065delT ENST00000558621.1 - 0 302 CTD-2147F2.1_ENST00000560314.1_lincRNA ctttccttcctttttttttct 0.323 4 5 --- --- --- --- CTD-2544M6.1 0 broad.mit.edu 37 15 98793769 98793770 + RNA INS - - G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:98793769_98793770insG ENST00000560360.1 - 0 291 ACAGAGTGTTTGGGGGGATGGG 0.381 2 4 --- --- --- --- RP11-654A16.3 0 broad.mit.edu 37 15 99588529 99588530 + RNA DEL TT TT - rs71653354 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr15:99588529_99588530delTT ENST00000559468.1 - 0 266 ttacatgtaatttttttttttt 0.510 5 1 --- --- --- --- U91319.1 0 broad.mit.edu 37 16 13396957 13396958 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:13396957_13396958insT ENST00000571619.1 + 0 178 GGCAATAACTGTTTTTTGCCCA 0.376 2 4 --- --- --- --- AC004125.3 0 broad.mit.edu 37 16 24256943 24256944 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:24256943_24256944insT ENST00000567624.1 + 0 52 gaccatttctgtttttcaacaa 0.421 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32094264 32094264 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:32094264delT ENST00000566806.1 - 0 499 gtgggtatcatgaaaattatg 0.443 3 3 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64353235 64353236 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:64353235_64353236insA ENST00000561657.1 - 0 381 atgggtgtgctaaaaaagcagc 0.327 2 4 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64375381 64375388 + RNA DEL TTCCTTCC TTCCTTCC - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:64375381_64375388delTTCCTTCC ENST00000561657.1 - 0 381 TCTTTTCCTTttccttccttccttcctt 0.462 3 5 --- --- --- --- RP11-351A20.1 0 broad.mit.edu 37 16 65658696 65658697 + RNA DEL TT TT - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:65658696_65658697delTT ENST00000563811.1 + 0 167 TTCCTGAATCTTAAGCTAGGAA 0.446 5 9 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72615727 72615727 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr16:72615727delC ENST00000561611.2 - 0 113 ggggaaaaaacagagcagaaa 0.433 3 3 --- --- --- --- FLJ36000 284124 broad.mit.edu 37 17 21911109 21911109 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:21911109delC ENST00000581223.2 + 0 1834 NR_027084.1 agaagtcgtgcccccgtgatc 0.617 2 4 --- --- --- --- YWHAEP7 284100 broad.mit.edu 37 17 36237852 36237853 + RNA INS - - AAC rs56934604 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:36237852_36237853insAAC ENST00000590732.1 - 0 108 NR_024178.1 ccctgtctcaaaacaacaacaa 0.441 2 4 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40843872 40843873 + Frame_Shift_Ins INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr17:40843872_40843873insC ENST00000264638.4 + 16 2610_2611 c.2393_2394insC c.(2392-2394)tccfs p.S798fs CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 798 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCACTACGCTTCCCCCCAATCC 0.564 7 439 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1059390 1059390 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:1059390delC ENST00000580781.1 + 0 306 tatagccatacctgctttctt 0.348 2 4 --- --- --- --- RP11-172F10.1 0 broad.mit.edu 37 18 4935838 4935839 + RNA INS - - G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:4935838_4935839insG ENST00000584204.1 - 0 500 acagcttttttgggggttctct 0.361 2 4 --- --- --- --- RP11-172F10.1 0 broad.mit.edu 37 18 4939799 4939800 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:4939799_4939800insT ENST00000584204.1 - 0 500 ATACATGCTGATTTTTTCCTTG 0.322 2 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37364370 37364370 + RNA DEL C C - rs77471540 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:37364370delC ENST00000591629.1 - 0 250 NR_024391.1 CCCATCCCTACCCCCAATCTA 0.458 4 4 --- --- --- --- LINC00907 284260 broad.mit.edu 37 18 40024010 40024010 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:40024010delC ENST00000593234.1 + 0 713 NR_046456.1 GACCTTTATACCACCTTAATT 0.378 2 4 --- --- --- --- LOC643542 643542 broad.mit.edu 37 18 65310673 65310674 + RNA DEL TC TC - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr18:65310673_65310674delTC ENST00000583687.1 + 0 204 NR_033921.1 tcctctcctttctctctctctc 0.554 2 4 --- --- --- --- CTD-2043I16.1 0 broad.mit.edu 37 19 28573686 28573687 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:28573686_28573687insA ENST00000590229.1 + 0 99 atcatctgtagaaaaaaaaaga 0.307 2 4 --- --- --- --- BBC3 27113 broad.mit.edu 37 19 47724978 47724978 + Frame_Shift_Del DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:47724978delC ENST00000449228.1 - 4 929 c.766delG c.(766-768)acfs p.D256fs BBC3_ENST00000300880.7_Frame_Shift_Del_p.D96fs|BBC3_ENST00000439096.2_3'UTR|BBC3_ENST00000341983.4_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) CAGAGAAAGTCCCCCGCGCTG 0.711 2 4 --- --- --- --- MGC45922 284365 broad.mit.edu 37 19 51320945 51320946 + RNA DEL TC TC - rs137983112 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr19:51320945_51320946delTC ENST00000326989.5 + 0 9_10 NR_038359.1 CTGTGGGATGtctctctctccc 0.525 4 4 --- --- --- --- LOC727993 727993 broad.mit.edu 37 20 1940244 1940245 + RNA INS - - A rs56954974 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:1940244_1940245insA ENST00000446562.1 + 0 476 aaaaaagactgaaaaaaaaaaa 0.322 2 4 --- --- --- --- CASC20 101929244 broad.mit.edu 37 20 6446726 6446726 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:6446726delT ENST00000415932.1 + 0 101 attcacttccttttttttttt 0.438 3 5 --- --- --- --- LOC101929371 101929371 broad.mit.edu 37 20 9980765 9980766 + RNA INS - - C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:9980765_9980766insC ENST00000449270.1 + 0 432 atggagagagacccccgagttt 0.559 2 4 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10829666 10829666 + RNA DEL A A - rs76345738 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:10829666delA ENST00000605292.1 + 0 98 TAACTCCCCCACCCGCCTCCA 0.502 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29576719 29576719 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:29576719delT ENST00000432067.1 - 0 288 agttttaaagtttttttctga 0.254 2 4 --- --- --- --- RP5-1121H13.4 0 broad.mit.edu 37 20 40655263 40655264 + RNA INS - - G TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr20:40655263_40655264insG ENST00000431589.1 + 0 131 taggctctggtggggggcatga 0.545 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11045194 11045197 + RNA DEL AGCC AGCC - rs150583233 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:11045194_11045197delAGCC ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGTTCTTATAGCCAGCCTAAAAG 0.314 6 1 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11094184 11094184 + RNA DEL G G - rs2775396 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:11094184delG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTTTTATAAAGATAACTACCT 0.393 2 4 --- --- --- --- CHODL-AS1 54075 broad.mit.edu 37 21 19241215 19241216 + RNA INS - - A rs58694067 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:19241215_19241216insA ENST00000447175.1 - 0 147 NR_024354.1 ctttagaaattaaaaaaaaaGA 0.386 3 5 --- --- --- --- CYYR1-AS1 100996571 broad.mit.edu 37 21 27774033 27774034 + RNA INS - - T rs35801633 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:27774033_27774034insT ENST00000421771.1 + 0 130 AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000452460.1_RNA|AP001597.1_ENST00000414486.1_RNA taatgcggttgttttttttttt 0.332 3 4 --- --- --- --- AP001607.1 0 broad.mit.edu 37 21 29015536 29015536 + RNA DEL T T - rs79704253 TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:29015536delT ENST00000426418.1 + 0 231 TTCCTTAGTATTTTTTTTTTC 0.294 3 4 --- --- --- --- LOC284825 284825 broad.mit.edu 37 21 29481550 29481551 + RNA INS - - ACTT rs72478641 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr21:29481550_29481551insACTT ENST00000426534.1 + 0 344 GGGGATATGTCACACTTCATTT 0.317 2 4 --- --- --- --- RP1-213J1P__B.1 0 broad.mit.edu 37 22 28093099 28093099 + RNA DEL G G - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr22:28093099delG ENST00000440255.1 - 0 324 CCACTGACTCGGGAATCTTGG 0.507 2 4 --- --- --- --- RFPL1S 10740 broad.mit.edu 37 22 29872546 29872547 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr22:29872546_29872547insA ENST00000461286.2 - 0 117 RFPL1S_ENST00000419368.1_RNA NR_002727.2 gtcctatggagaaaaaacaagc 0.431 2 4 --- --- --- --- LINC01399 104310353 broad.mit.edu 37 22 35605322 35605323 + RNA DEL GA GA - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr22:35605322_35605323delGA ENST00000423311.1 - 0 59 gacagcaggcgagagagagaga 0.485 2 4 --- --- --- --- RP1-293L6.1 0 broad.mit.edu 37 22 37107983 37107984 + RNA INS - - G rs35129062 by1000genomes TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chr22:37107983_37107984insG ENST00000430281.1 + 0 75 aaatacaaaaaaaagaaagaaa 0.421 8 1 --- --- --- --- MID1 4281 broad.mit.edu 37 X 11117938 11117938 + RNA DEL C C - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:11117938delC ENST00000433747.2 - 0 322 ATCTCTTTGTCCCCTTTGGCC 0.428 2 4 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50150474 50150475 + RNA DEL AG AG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:50150474_50150475delAG ENST00000376025.2 - 0 1002 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) gtgtgcatgcagagagagagag 0.446 3 6 --- --- --- --- DIAPH2-AS1 10824 broad.mit.edu 37 X 96865667 96865668 + RNA DEL TG TG - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:96865667_96865668delTG ENST00000445414.1 - 0 148 DIAPH2-AS1_ENST00000542084.1_RNA AGTGTGCAGATGTGTGTGTGTG 0.450 2 4 --- --- --- --- LINC00630 100287765 broad.mit.edu 37 X 102050301 102050301 + RNA DEL T T - TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:102050301delT ENST00000440496.1 + 0 232 NR_038988.1 agtctatgtcttttaattggc 0.388 2 4 --- --- --- --- RP5-964N17.1 0 broad.mit.edu 37 X 113013382 113013383 + RNA INS - - T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:113013382_113013383insT ENST00000468762.2 - 0 26 GTAGGGGAGTATTTTTTTTATA 0.337 2 4 --- --- --- --- RP11-366F6.2 0 broad.mit.edu 37 X 151077017 151077018 + RNA INS - - A TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx cac5bcd1-f044-4275-89cd-1110d0025537 cec1e6ce-89c1-43b3-b0e1-80654e13947d g.chrX:151077017_151077018insA ENST00000411474.1 - 0 433 RP11-366F6.2_ENST00000445330.1_RNA ggcattttcttaaaaaactgaa 0.332 2 4 --- --- --- ---