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 OR2A5 393046 broad.mit.edu 37 7 143748072 143748072 + Missense_Mutation SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:143748072G>C ENST00000408906.2 + 1 612 c.578G>C c.(577-579)tGg>tCg p.W193S NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GCTGACACCTGGCTCAACCAG 0.572000 97 268 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27805322 27805322 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:27805322C>T ENST00000261716.3 + 6 925 c.406C>T c.(406-408)Ctt>Ttt p.L136F TAOK1_ENST00000536202.1_Missense_Mutation_p.L136F NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 136 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) ACATGGTGCTCTTCAGGGATT 0.299000 8 35 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5961120 5961120 + Silent SNP C C G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:5961120C>G ENST00000531445.1 - 7 2281 c.2235G>C c.(2233-2235)ccG>ccC p.P745P C4orf50_ENST00000324058.5_Silent_p.P271P Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 271 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CTAACTCCAGCGGTGATTTAT 0.458000 20 47 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5805697 5805697 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr9:5805697C>A ENST00000339450.5 - 9 1726 c.1637G>T c.(1636-1638)gGa>gTa p.G546V ERMP1_ENST00000543230.1_Missense_Mutation_p.G124V|ERMP1_ENST00000381506.3_Missense_Mutation_p.G322V|ERMP1_ENST00000214893.5_5'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 546 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CGAGCAAAGTCCTTGGTAAGT 0.438000 30 82 7.11191e-15 9.03805e-15 1 1 0 NAV3 89795 broad.mit.edu 37 12 78582417 78582417 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:78582417C>T ENST00000397909.2 + 33 6088 c.5915C>T c.(5914-5916)aCt>aTt p.T1972I NAV3_ENST00000552300.1_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.T1950I|NAV3_ENST00000266692.7_Missense_Mutation_p.T1773I|NAV3_ENST00000228327.6_Missense_Mutation_p.T1950I Q8IVL0 NAV3_HUMAN neuron navigator 3 1972 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GATACATCCACTAGCCTTGGT 0.383000 HNSCC(70;0.22) 35 99 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905148 144905148 + Missense_Mutation SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chrX:144905148A>T ENST00000370490.1 + 1 5460 c.1205A>T c.(1204-1206)gAc>gTc p.D402V SLITRK2_ENST00000434188.2_Missense_Mutation_p.D402V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.D402V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.D402V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.D402V Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 402 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) AGTTCTTTGGACTTACTGCAC 0.423000 21 19 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183682984 183682984 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:183682984C>A ENST00000334444.6 - 14 2260 c.2020G>T c.(2020-2022)Gac>Tac p.D674Y ABCC5_ENST00000265586.6_Missense_Mutation_p.D674Y NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 674 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCGTCAGGTCGCTGCTGGGA 0.607000 16 48 5.3912e-06 5.82059e-06 1 1 0 MBD6 114785 broad.mit.edu 37 12 57920532 57920532 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:57920532C>T ENST00000355673.3 + 7 1960 c.1604C>T c.(1603-1605)cCt>cTt p.P535L MBD6_ENST00000431731.2_Missense_Mutation_p.P535L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 535 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GCTGGCTTCCCTGGGATGCTT 0.647000 5 16 0 0 1 0 0 DZIP1L 199221 broad.mit.edu 37 3 137787060 137787060 + Missense_Mutation SNP C C A rs138745459 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:137787060C>A ENST00000327532.2 - 13 2127 c.1765G>T c.(1765-1767)Gcc>Tcc p.A589S NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 589 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GGAGCGGGGGCGGACACCTGG 0.697000 16 42 3.5997e-14 4.43599e-14 1 1 0 NALCN 259232 broad.mit.edu 37 13 101944670 101944670 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:101944670C>A ENST00000251127.6 - 8 928 c.847G>T c.(847-849)Gtg>Ttg p.V283L NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V283L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 283 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATGAGGAACACCCAGCCTTCC 0.473000 19 29 2.35188e-11 2.84089e-11 1 1 0 FCRL2 79368 broad.mit.edu 37 1 157736756 157736756 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:157736756C>T ENST00000361516.3 - 7 1216 c.1168G>A c.(1168-1170)Gat>Aat p.D390N FCRL2_ENST00000368181.4_Missense_Mutation_p.D106N|FCRL2_ENST00000392274.3_Missense_Mutation_p.D390N|FCRL2_ENST00000469986.1_Missense_Mutation_p.D137N NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 390 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTATAGCCATCAGGTCCTGAG 0.443000 36 134 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325198 31325198 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr18:31325198G>A ENST00000269197.5 + 12 5386 c.5386G>A c.(5386-5388)Gtt>Att p.V1796I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1796 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGAGAGAAACGTTGAAATTCC 0.498000 36 75 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57358431 57358431 + Nonsense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:57358431G>A ENST00000314922.3 - 1 158 c.82C>T c.(82-84)Cag>Tag p.Q28* RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000523051.1_Nonsense_Mutation_p.Q28*|PENK_ENST00000451791.2_Nonsense_Mutation_p.Q28*|PENK_ENST00000518770.1_Nonsense_Mutation_p.Q28* NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 28 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GCGCAATCCTGGCTGCATTCG 0.657000 5 16 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28878696 28878696 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:28878696C>A ENST00000337120.5 + 2 4275 c.984C>A c.(982-984)gaC>gaA p.D328E SH2B1_ENST00000538342.1_5'UTR|SH2B1_ENST00000359285.5_Missense_Mutation_p.D328E|SH2B1_ENST00000395532.4_Missense_Mutation_p.D328E|SH2B1_ENST00000322610.8_Missense_Mutation_p.D328E|SH2B1_ENST00000545570.1_Missense_Mutation_p.D18E|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 328 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CTATCACAGACGTCCGGACAA 0.542000 5 124 1.024e-07 1.18979e-07 1 1 0 UGT2A2 574537 broad.mit.edu 37 4 70505119 70505119 + Silent SNP A A G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:70505119A>G ENST00000457664.2 - 1 239 c.240T>C c.(238-240)ttT>ttC p.F80F UGT2A1_ENST00000514019.1_Silent_p.F281F|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron NM_001105677.2 NP_001099147.2 GTATCACTTCAAAATTCACAG 0.368000 58 105 0 0 1 0 0 GIP 2695 broad.mit.edu 37 17 47038345 47038345 + Missense_Mutation SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:47038345G>C ENST00000357424.2 - 5 455 c.355C>G c.(355-357)Cca>Gca p.P119A NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 119 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 TTCTTGGCTGGGGAGCTGCAA 0.567000 4 10 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367126 248367126 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:248367126G>A ENST00000456743.1 + 1 795 c.757G>A c.(757-759)Gga>Aga p.G253R NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AATGTACTATGGAGCAGCTTT 0.488000 64 191 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102661457 102661457 + Missense_Mutation SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:102661457A>T ENST00000315274.6 - 9 1344 c.1277T>A c.(1276-1278)gTt>gAt p.V426D WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 426 Hemopexin-like 4. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AACTGCATCAACTTTGTGGCC 0.358000 25 42 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917762 186917762 + Silent SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:186917762A>T ENST00000312295.4 + 2 726 c.696A>T c.(694-696)tcA>tcT p.S232S RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 232 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AGACGGGCTCAGGCTGGAACT 0.597000 34 98 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2602398 2602398 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:2602398C>T ENST00000399655.1 + 7 1224 c.959C>T c.(958-960)aCg>aTg p.T320M CACNA1C_ENST00000399634.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T320M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T320M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T320M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T320M NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 320 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGCTGGAAACGGGCCACGGG 0.602000 43 141 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380358 147380358 + Nonsense_Mutation SNP C C G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:147380358C>G ENST00000240986.4 + 2 329 c.276C>G c.(274-276)taC>taG p.Y92* GJA8_ENST00000369235.1_Nonsense_Mutation_p.Y92* NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 92 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) CCCTGATGTACGTGGGGCACG 0.657000 22 66 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198968574 198968574 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:198968574C>T ENST00000428675.1 + 5 3417 c.3019C>T c.(3019-3021)Cat>Tat p.H1007Y PLCL1_ENST00000437704.2_Missense_Mutation_p.H909Y NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 1007 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGAAGAACTTCATAATTTGGG 0.353000 34 94 0 0 1 0 0 BPGM 669 broad.mit.edu 37 7 134346797 134346797 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:134346797G>T ENST00000393132.2 + 3 1027 c.538G>T c.(538-540)Ggc>Tgc p.G180C BPGM_ENST00000418040.1_Missense_Mutation_p.G180C|BPGM_ENST00000344924.3_Missense_Mutation_p.G180C NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 180 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 AGTATTACGTGGCAAAACCAT 0.453000 35 81 2.42023e-17 3.17493e-17 1 1 0 KRBA2 124751 broad.mit.edu 37 17 8273312 8273312 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:8273312C>A ENST00000396267.1 - 2 1204 c.373G>T c.(373-375)Ggt>Tgt p.G125C KRBA2_ENST00000331336.2_Missense_Mutation_p.G207C|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 207 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 GTCCGCCCACCATGTCCAATA 0.418000 10 43 7.48243e-07 8.37483e-07 1 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862786 10862786 + RNA SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr21:10862786G>C ENST00000559480.1 + 0 82 p.A28T(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GCAGTCTGGGGCTGAGGTGAA 0.572000 17 154 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45899438 45899438 + Silent SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:45899438C>T ENST00000418234.2 - 6 969 c.891G>A c.(889-891)ggG>ggA p.G297G PPP1R13L_ENST00000360957.5_Silent_p.G297G NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 297 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGCCGGTGCCCCCCAGTCCAT 0.697000 2 0 0 0 1 0 0 HDAC1 3065 broad.mit.edu 37 1 32793141 32793141 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:32793141C>T ENST00000373548.3 + 6 583 c.499C>T c.(499-501)Cac>Tac p.H167Y HDAC1_ENST00000373541.2_5'UTR|HDAC1_ENST00000490081.1_3'UTR NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 167 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TCCTAGGTATCACCAGAGGGT 0.582000 4 24 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37209889 37209889 + Missense_Mutation SNP A A G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:37209889A>G ENST00000585696.1 + 3 1400 c.170A>G c.(169-171)aAg>aGg p.K57R ZNF567_ENST00000392163.2_Missense_Mutation_p.K57R|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.K88R|ZNF567_ENST00000360729.4_Missense_Mutation_p.K57R|ZNF567_ENST00000588311.1_Missense_Mutation_p.K57R Q8N184 ZN567_HUMAN zinc finger protein 567 88 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTGAAATTCAAGGAACACCAA 0.318000 8 14 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217285167 217285167 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:217285167G>T ENST00000357276.4 + 5 1338 c.1008G>T c.(1006-1008)atG>atT p.M336I SMARCAL1_ENST00000358207.5_Missense_Mutation_p.M336I NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 336 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GGCGATGCATGCTCATCTCCA 0.512000 Schimke Immuno-Osseous Dysplasia 11 50 3.07112e-06 3.37546e-06 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141245284 141245284 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:141245284C>A ENST00000389484.3 - 58 10116 c.9145G>T c.(9145-9147)Gac>Tac p.D3049Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3049 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D3049Y(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAATCAAAGTCTATAGCAATA 0.308000 TSP Lung(27;0.18) 5 19 0.000602214 0.00062795 1 1 0 MYOT 9499 broad.mit.edu 37 5 137213289 137213289 + Missense_Mutation SNP C C G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:137213289C>G ENST00000239926.4 + 4 986 c.612C>G c.(610-612)gaC>gaG p.D204E MYOT_ENST00000421631.2_Missense_Mutation_p.D20E|MYOT_ENST00000515645.1_Missense_Mutation_p.D89E|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_3'UTR NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 204 muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTCAGGATGACAGTGGTGCAC 0.383000 20 27 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295636 20295636 + Missense_Mutation SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:20295636G>C ENST00000315947.1 + 1 29 c.29G>C c.(28-30)aGa>aCa p.R10T OR4N2_ENST00000568211.1_Missense_Mutation_p.R10T NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACAGTGATAAGAGAATTCATC 0.383000 16 237 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739507 62739507 + Silent SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:62739507C>T ENST00000371153.4 - 3 1647 c.1269G>A c.(1267-1269)ttG>ttA p.L423L KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 423 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ACTCCCTGGTCAAGAGTCCAT 0.552000 48 86 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114288770 114288770 + Missense_Mutation SNP A A C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:114288770A>C ENST00000357077.4 + 42 11134 c.11081A>C c.(11080-11082)aAa>aCa p.K3694T ANK2_ENST00000394537.3_Missense_Mutation_p.K1609T|ANK2_ENST00000510275.2_Missense_Mutation_p.K261T|ANK2_ENST00000264366.6_Missense_Mutation_p.K3661T|ANK2_ENST00000509550.1_Missense_Mutation_p.K785T|ANK2_ENST00000506722.1_Missense_Mutation_p.K1600T NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3661 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACAAGCAGAAAGAGGAGCAA 0.428000 26 32 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117654991 117654991 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:117654991G>T ENST00000256649.4 - 6 2205 c.1679C>A c.(1678-1680)tCt>tAt p.S560Y TRIM45_ENST00000369464.3_Missense_Mutation_p.S542Y|TRIM45_ENST00000369461.3_Missense_Mutation_p.S503Y NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 560 cytoplasm|nucleus zinc ion binding p.S560Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TGTGCATTCAGATTTCTCATT 0.527000 33 122 6.05902e-23 8.21334e-23 1 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16838657 16838657 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:16838657G>T ENST00000355661.3 - 11 1566 c.1556C>A c.(1555-1557)aCc>aAc p.T519N PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T519N|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T519N|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 519 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CTGCCACACGGTGCCATCCCG 0.662000 20 53 2.89027e-11 3.45699e-11 1 1 0 IRF9 10379 broad.mit.edu 37 14 24632300 24632300 + Silent SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:24632300C>T ENST00000396864.3 + 3 593 c.306C>T c.(304-306)cgC>cgT p.R102R RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_5'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 102 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGAGGGGCCGCATGGATGTTG 0.542000 30 47 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124909323 124909323 + Missense_Mutation SNP A A G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:124909323A>G ENST00000423114.2 - 3 180 c.181T>C c.(181-183)Ttc>Ctc p.F61L SLC12A8_ENST00000469902.1_Missense_Mutation_p.F32L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.F32L|SLC12A8_ENST00000314584.7_5'UTR A0AV02 S12A8_HUMAN solute carrier family 12, member 8 32 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TCCCACATGAACAGCTGGGTC 0.582000 33 91 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7606726 7606726 + Silent SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:7606726A>T ENST00000316024.5 + 10 3917 c.1569A>T c.(1567-1569)ccA>ccT p.P523P WRAP53_ENST00000534050.1_Silent_p.P490P|WRAP53_ENST00000431639.2_Silent_p.P523P|WRAP53_ENST00000396463.2_Silent_p.P523P|WRAP53_ENST00000457584.2_Silent_p.P523P Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 523 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GGGGGGCGCCAGACTCCAGCA 0.582000 3 12 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27009159 27009159 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:27009159G>A ENST00000382009.3 + 8 1514 c.1247G>A c.(1246-1248)cGc>cAc p.R416H STIM2_ENST00000237364.5_Missense_Mutation_p.R416H|STIM2_ENST00000467087.1_Missense_Mutation_p.R329H|STIM2_ENST00000465503.1_Missense_Mutation_p.R329H|STIM2_ENST00000412829.2_Missense_Mutation_p.R416H|STIM2_ENST00000467011.1_Missense_Mutation_p.R329H NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 329 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) ttcTAGGTTCGCATGGCTCTG 0.383000 8 38 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167973205 167973205 + Silent SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:167973205A>T ENST00000367840.3 + 9 1189 c.1095A>T c.(1093-1095)ggA>ggT p.G365G DCAF6_ENST00000367843.3_Silent_p.G365G|DCAF6_ENST00000432587.2_Silent_p.G334G|DCAF6_ENST00000312263.6_Silent_p.G365G NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 365 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GCAATAGAGGACGAGGAAGAT 0.378000 24 51 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55058573 55058573 + Silent SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:55058573C>A ENST00000262288.3 + 2 262 c.207C>A c.(205-207)ccC>ccA p.P69P SCPEP1_ENST00000571898.1_3'UTR NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 69 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) CAGAACTGCCCCTGGTCATGT 0.517000 3 19 6.4e-05 6.84912e-05 1 1 0 LATS2 26524 broad.mit.edu 37 13 21549230 21549230 + Missense_Mutation SNP C C T rs113238499 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:21549230C>T ENST00000382592.4 - 8 3451 c.3046G>A c.(3046-3048)Gaa>Aaa p.E1016K LATS2_ENST00000542899.1_Missense_Mutation_p.E1016K NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 1016 AGC-kinase C-terminal. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.E1016K(1) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GTGCTACCTTCGCTGGCATCG 0.547000 20 34 0 0 1 0 0 POLG2 11232 broad.mit.edu 37 17 62493021 62493021 + Silent SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:62493021C>T ENST00000539111.2 - 1 133 c.66G>A c.(64-66)ggG>ggA p.G22G NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 22 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CTACTCGACCCCCAAACCCAG 0.607000 18 35 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112103015 112103015 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:112103015C>T ENST00000457016.1 + 4 730 c.350C>T c.(349-351)tCa>tTa p.S117L APC_ENST00000257430.4_Missense_Mutation_p.S117L|APC_ENST00000508376.2_Missense_Mutation_p.S117L P25054 APC_HUMAN adenomatous polyposis coli 117 Leu-rich. 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.S117L(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) CCTATGGGTTCATTTCCAAGA 0.418000 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) 24 42 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102661456 102661456 + Silent SNP A A T rs147162223 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:102661456A>T ENST00000315274.6 - 9 1345 c.1278T>A c.(1276-1278)gtT>gtA p.V426V WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 426 Hemopexin-like 4. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AAACTGCATCAACTTTGTGGC 0.358000 24 42 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145008878 145008878 + Silent SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:145008878C>T ENST00000322810.4 - 10 1546 c.1377G>A c.(1375-1377)ctG>ctA p.L459L PLEC_ENST00000436759.2_Silent_p.L349L|PLEC_ENST00000356346.3_Silent_p.L308L|PLEC_ENST00000345136.3_Silent_p.L322L|PLEC_ENST00000357649.2_Silent_p.L326L|PLEC_ENST00000354589.3_Silent_p.L322L|PLEC_ENST00000527096.1_Silent_p.L345L|PLEC_ENST00000354958.2_Silent_p.L300L|PLEC_ENST00000398774.2_Silent_p.L290L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 459 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTTAAACTTCAGGAACTGAG 0.652000 3 4 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66458297 66458297 + RNA SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr9:66458297G>A ENST00000424345.1 + 0 67 CAAGAGCCCGGCCCAGCCAAG 0.731000 3 8 0 0 1 0 0 ZNF252P 286101 broad.mit.edu 37 8 146199251 146199251 + RNA SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:146199251G>A ENST00000426361.2 - 0 4933 NR_023392.1 endometrium(1) 1 GAACAAACATGGAGGAAAAAG 0.418000 2 3 0 0 1 0 0 RAB17 64284 broad.mit.edu 37 2 238486012 238486012 + Missense_Mutation SNP T T C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:238486012T>C ENST00000264601.3 - 4 952 c.323A>G c.(322-324)aAg>aGg p.K108R RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000409822.1_5'UTR|RAB17_ENST00000409576.1_Intron NM_022449.3 NP_071894.1 Q9H0T7 RAB17_HUMAN RAB17, member RAS oncogene family 108 protein transport|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1) 4 Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221) Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026) CTGCTGAGCCTTGAGGAAGGA 0.522000 14 34 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81664999 81664999 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:81664999G>T ENST00000558726.1 - 2 304 c.169C>A c.(169-171)Cag>Aag p.Q57K TMC3_ENST00000359440.5_Missense_Mutation_p.Q57K Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 57 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AGATCTTTCTGGAACTGTATA 0.458000 30 98 3.99451e-17 5.18436e-17 1 1 0 SOS1 6654 broad.mit.edu 37 2 39214707 39214707 + Silent SNP A A G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:39214707A>G ENST00000426016.1 - 23 3503 c.3417T>C c.(3415-3417)agT>agC p.S1139S SOS1_ENST00000402219.2_Silent_p.S1139S|SOS1_ENST00000395038.2_Silent_p.S1124S Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1139 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CTTTGGTTAAACTTATAGATG 0.398000 Noonan syndrome 12 25 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220371144 220371144 + Splice_Site SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:220371144G>T ENST00000358215.3 + 12 1531 c.1162_splice c.e12+1 p.G388_splice GMPPA_ENST00000341142.3_Splice_Site_p.G388_splice|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Splice_Site_p.G388_splice|GMPPA_ENST00000373917.3_Splice_Site_p.G441_splice|GMPPA_ENST00000373908.1_Splice_Site_p.G388_splice NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 388 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CACCATCCTGGGTATGGCTTC 0.627000 8 13 2.74318e-10 3.2492e-10 1 1 0 LMBRD2 92255 broad.mit.edu 37 5 36136536 36136536 + Nonsense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:36136536C>A ENST00000296603.4 - 6 1084 c.622G>T c.(622-624)Gaa>Taa p.E208* NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 208 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGAGGAATTTCCACCAAGCCA 0.428000 23 29 8.04996e-18 1.06749e-17 1 1 0 LRRTM1 347730 broad.mit.edu 37 2 80529445 80529445 + Silent SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:80529445G>T ENST00000295057.3 - 2 2156 c.1500C>A c.(1498-1500)gcC>gcA p.A500A CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.A500A|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 500 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 TGATCACCAGGGCTCCCTCAA 0.547000 HNSCC(69;0.2) 11 29 0.00010058 0.000106702 1 1 0 SLC12A5 57468 broad.mit.edu 37 20 44672539 44672539 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:44672539G>A ENST00000454036.1 + 11 1506 c.1430G>A c.(1429-1431)gGg>gAg p.G477E SLC12A5_ENST00000243964.3_Missense_Mutation_p.G454E|SLC12A5_ENST00000539566.1_Intron NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 477 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTCTGTTTGGGGCCTGCATT 0.562000 17 60 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17412585 17412585 + Missense_Mutation SNP A A G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:17412585A>G ENST00000470360.1 + 9 1423 c.1306A>G c.(1306-1308)Att>Gtt p.I436V SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.I436V P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 397 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TGCAGGGGTCATTTCTGGTAA 0.453000 23 38 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20569944 20569944 + Missense_Mutation SNP C C G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:20569944C>G ENST00000202677.6 - 18 2549 c.2407G>C c.(2407-2409)Gga>Cga p.G803R NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 803 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTCACATGTCCTTTATTCTCT 0.378000 9 16 0 0 1 0 0 CPB1 1360 broad.mit.edu 37 3 148577707 148577707 + Missense_Mutation SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:148577707A>T ENST00000491148.1 + 12 1506 c.1172A>T c.(1171-1173)gAa>gTa p.E391V CPB1_ENST00000282957.4_Missense_Mutation_p.E391V|CPB1_ENST00000498639.1_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 391 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTCCTTCCAGAATCCCAGATC 0.517000 23 60 0 0 1 0 0 THAP11 57215 broad.mit.edu 37 16 67876864 67876864 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:67876864C>T ENST00000303596.1 + 1 652 c.407C>T c.(406-408)tCt>tTt p.S136F CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 136 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TCCTCACCCTCTGCCTCCACT 0.627000 8 13 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959177 25959177 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:25959177G>A ENST00000356865.6 - 10 2099 c.1988C>T c.(1987-1989)tCg>tTg p.S663L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 663 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGCGATGGCCGAGGTGGGCTG 0.672000 6 7 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43984326 43984326 + Silent SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:43984326G>A ENST00000282406.4 + 26 3974 c.3864G>A c.(3862-3864)gtG>gtA p.V1288V NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1288 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGTGCAAAGTGAATCAAACTC 0.353000 12 30 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474364 43474364 + Missense_Mutation SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:43474364G>C ENST00000532038.1 - 10 1338 c.1203C>G c.(1201-1203)agC>agG p.S401R ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S282R|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S255R|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S623R|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S601R|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S282R|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S596R Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 623 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) TGCTGCTCTCGCTCTCCTCTG 0.652000 17 58 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113831717 113831717 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:113831717G>T ENST00000257549.4 - 7 880 c.758C>A c.(757-759)gCc>gAc p.A253D NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 253 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CTCAATGGCGGCCACAGCCTC 0.587000 24 53 2.44723e-14 3.04655e-14 1 1 0 DMAP1 55929 broad.mit.edu 37 1 44684806 44684806 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:44684806G>A ENST00000372289.2 + 6 1062 c.799G>A c.(799-801)Gac>Aac p.D267N DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.D267N|DMAP1_ENST00000361745.6_Missense_Mutation_p.D267N NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 267 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) ACGCAGCCAGGACCTGCAGAA 0.597000 20 18 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33545232 33545232 + Missense_Mutation SNP C C T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:33545232C>T ENST00000242067.6 + 20 2794 c.2273C>T c.(2272-2274)cCg>cTg p.P758L BBS9_ENST00000396127.2_Missense_Mutation_p.P723L|BBS9_ENST00000355070.2_Missense_Mutation_p.P753L|BBS9_ENST00000354265.4_Missense_Mutation_p.P723L|BBS9_ENST00000350941.3_Missense_Mutation_p.P718L NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 758 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.P758Q(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) GCATTTCTGCCGCTACAAGAA 0.498000 Bardet-Biedl syndrome 24 74 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43577065 43577065 + Silent SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:43577065C>A ENST00000452443.2 - 7 955 c.951G>T c.(949-951)acG>acT p.T317T NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 317 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGTCATAGTACGTATCGATGG 0.458000 21 55 6.21321e-17 7.97907e-17 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169484670 169484670 + Splice_Site SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:169484670G>T ENST00000256935.8 + 44 4547 c.4467_splice c.e44+1 p.Q1489_splice DOCK2_ENST00000520908.1_Splice_Site_p.Q981_splice|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Splice_Site_p.Q550_splice NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1489 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATGTCGCAGGTGAGTCTGG 0.567000 15 45 3.52763e-06 3.8426e-06 1 1 0 RPTOR 57521 broad.mit.edu 37 17 78704429 78704429 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:78704429G>A ENST00000306801.3 + 5 939 c.577G>A c.(577-579)Gtc>Atc p.V193I RPTOR_ENST00000537330.1_Missense_Mutation_p.V8I|RPTOR_ENST00000570891.1_Missense_Mutation_p.V193I|RPTOR_ENST00000544334.2_Missense_Mutation_p.V193I NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 193 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding p.V193I(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GTCGATCTTCGTCTACGACTG 0.537000 18 54 0 0 1 0 0 LPGAT1 9926 broad.mit.edu 37 1 212002507 212002507 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:212002507C>A ENST00000366997.4 - 2 358 c.132G>T c.(130-132)caG>caT p.Q44H LPGAT1_ENST00000366996.1_Missense_Mutation_p.Q44H NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 44 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) CTCGAAGGGGCTGAAGTATAA 0.463000 15 40 2.32078e-09 2.72246e-09 1 1 0 COL17A1 1308 broad.mit.edu 37 10 105807838 105807838 + Missense_Mutation SNP T T A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:105807838T>A ENST00000353479.5 - 30 2542 c.2252A>T c.(2251-2253)cAa>cTa p.Q751L COL17A1_ENST00000369733.3_Missense_Mutation_p.Q751L NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 751 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TCTTGGGCCTTGGTGTCCGTC 0.582000 98 219 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6889 6889 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chrM:6889G>A ENST00000361624.2 + 1 986 c.986G>A c.(985-987)gGa>gAa p.329_329insE mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CACACTCCACGGAAGCAATAT 0.478000 116 169 0 0 1 0 0 ZNF736 728927 broad.mit.edu 37 7 63796682 63796682 + Missense_Mutation SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:63796682G>C ENST00000355095.4 + 3 371 c.49G>C c.(49-51)Gag>Cag p.E17Q ZNF736_ENST00000423484.1_Missense_Mutation_p.E17Q NM_001170905.1 NP_001164376.1 B4DX44 ZN736_HUMAN zinc finger protein 736 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 CTCCCCAGAAGAGTGGGAATG 0.423000 8 29 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149489172 149489172 + RNA SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:149489172G>T ENST00000378016.2 + 0 5417 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTCAGGACGGCTGCCCCAAT 0.632000 4 8 1 1 1 1 0 LINC00595 414243 broad.mit.edu 37 10 80027183 80027183 + RNA SNP C C G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:80027183C>G ENST00000461034.1 + 0 48 ACACCCCTAGCCCAGGGTCTC 0.537000 2 4 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9243996 9243996 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:9243996G>A ENST00000318602.7 - 19 2577 c.2270C>T c.(2269-2271)aCa>aTa p.T757I NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 757 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GTCAGGGACTGTTACTCCTAC 0.517000 35 133 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949666 7949666 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:7949666G>T ENST00000309838.2 - 1 543 c.544C>A c.(544-546)Cca>Aca p.P182T NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACACTGCTGGGGTTTCACAA 0.368000 25 81 1.5548e-18 2.08446e-18 1 1 0 PAPOLA 10914 broad.mit.edu 37 14 96993836 96993836 + Missense_Mutation SNP A A G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:96993836A>G ENST00000216277.8 + 5 621 c.401A>G c.(400-402)tAt>tGt p.Y134C PAPOLA_ENST00000557471.1_Missense_Mutation_p.Y134C|PAPOLA_ENST00000392990.2_Missense_Mutation_p.Y134C|PAPOLA_ENST00000557320.1_Missense_Mutation_p.Y134C|PAPOLA_ENST00000554130.1_3'UTR NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 134 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ACCTCATTCTATGATAAGTTG 0.358000 7 7 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38133995 38133995 + Missense_Mutation SNP T T G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:38133995T>G ENST00000317025.8 - 23 4408 c.3891A>C c.(3889-3891)gaA>gaC p.E1297D WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1286D|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1248D|RP11-513D5.5_ENST00000529325.1_RNA NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1297 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTGCCTTCTCTTCATTTGTTG 0.418000 T NUP98 AML 8 12 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29541192 29541192 + Missense_Mutation SNP G G C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:29541192G>C ENST00000389048.3 - 8 2531 c.1625C>G c.(1624-1626)cCg>cGg p.P542R ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 542 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.P542R(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCTCTTGATCGGTGCAGGAAA 0.473000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 58 0 0 1 0 0 SLC15A4 121260 broad.mit.edu 37 12 129299352 129299352 + Silent SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:129299352G>A ENST00000266771.5 - 2 849 c.810C>T c.(808-810)tcC>tcT p.S270S SLC15A4_ENST00000539703.1_5'UTR NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 270 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TTCGCTTCTGGGAACAGCAGG 0.478000 18 51 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251219 129251219 + Missense_Mutation SNP T T C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:129251219T>C ENST00000296271.3 + 3 750 c.656T>C c.(655-657)aTc>aCc p.I219T NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 219 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) ATGATTATCATCTTTTTCTGC 0.562000 12 22 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96585677 96585677 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:96585677C>A ENST00000389672.5 + 2 432 c.394C>A c.(394-396)Ctt>Att p.L132I EPHA6_ENST00000470610.2_Missense_Mutation_p.L132I|EPHA6_ENST00000542517.1_Missense_Mutation_p.L38I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 37 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AGTTGTGTTGCTTGATACAAC 0.249000 5 5 5.9392e-07 6.7091e-07 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 10 0.00621372 0.00642435 1 1 0 ABCF3 55324 broad.mit.edu 37 3 183909039 183909039 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:183909039G>A ENST00000429586.2 + 16 1750 c.1565G>A c.(1564-1566)tGt>tAt p.C522Y ABCF3_ENST00000292808.5_Missense_Mutation_p.C516Y|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 522 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTCGCATCTGTGTGGTAAGG 0.542000 31 82 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48576829 48576829 + Missense_Mutation SNP T T C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:48576829T>C ENST00000262384.3 - 7 2913 c.2677A>G c.(2677-2679)Atg>Gtg p.M893V N4BP1_ENST00000565423.1_5'UTR NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 893 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TCCAACACCATGGCAGAAAGC 0.483000 45 69 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458167 45458167 + RNA SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:45458167C>A ENST00000548424.1 + 0 448 TCCCGACATTCTGGACGAGAG 0.468000 28 64 4.15321e-07 4.73544e-07 1 1 0 KCNA6 3742 broad.mit.edu 37 12 4920770 4920770 + Silent SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:4920770A>T ENST00000433855.1 + 1 2429 c.1563A>T c.(1561-1563)gcA>gcT p.A521A KCNA6_ENST00000280684.3_Silent_p.A521A NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 521 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGGCCTATGCAGAGAAAAGAA 0.567000 HNSCC(72;0.22) 18 57 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137776536 137776536 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:137776536C>A ENST00000242375.3 + 3 326 c.284C>A c.(283-285)cCa>cAa p.P95Q AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.P95Q|AKR1D1_ENST00000411726.2_Missense_Mutation_p.P95Q NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 95 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 AATCATGTCCCAGAGATGGTC 0.443000 20 39 1.50039e-11 1.83048e-11 1 1 0 OXA1L 5018 broad.mit.edu 37 14 23239013 23239013 + Silent SNP C C G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:23239013C>G ENST00000358043.5 + 4 723 c.405C>G c.(403-405)gcC>gcG p.A135A OXA1L_ENST00000285848.5_Silent_p.A211A|OXA1L_ENST00000604262.1_Silent_p.A151A|OXA1L_ENST00000412791.1_Silent_p.A151A Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 151 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CAGTCTTTGCCCGCTGCCTGA 0.478000 23 422 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777693 123777693 + Missense_Mutation SNP T T G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:123777693T>G ENST00000321355.2 + 1 585 c.555T>G c.(553-555)atT>atG p.I185M NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TCCCTCTTATTAAACTCTCCT 0.373000 58 92 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769451 57769451 + Missense_Mutation SNP C C A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:57769451C>A ENST00000371030.2 + 1 3377 c.3377C>A c.(3376-3378)tCc>tAc p.S1126Y NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1126 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GACCCGTGTTCCCCCCTCCAG 0.672000 3 25 0.115264 0.11817 1 1 0 LOC100288069 100288069 broad.mit.edu 37 1 706330 706331 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:706330_706331insG ENST00000428504.1 - 0 585 NR_033908.1 CCACTGCCTGAGGGGGGGGAGG 0.609 2 4 --- --- --- --- ESPNP 284729 broad.mit.edu 37 1 17030903 17030905 + RNA DEL GAG GAG - rs67156338 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:17030903_17030905delGAG ENST00000492551.1 - 0 696 NR_026567.1 AGAGATCGACGAGGAGGGGGCCT 0.640 5 3 --- --- --- --- RP11-84A19.4 0 broad.mit.edu 37 1 32359609 32359609 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:32359609delA ENST00000602889.1 - 0 485 actccctctcaaaaaaaaaaa 0.413 3 5 --- --- --- --- RP11-335E6.2 0 broad.mit.edu 37 1 63605814 63605815 + RNA DEL TT TT - rs35321041 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:63605814_63605815delTT ENST00000455038.1 + 0 248 CCAGCCTGCATTTTTTTTTTTT 0.351 5 5 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68481142 68481143 + RNA INS - - T rs55645029 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:68481142_68481143insT ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000414904.1_RNA|GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN TTGTGTTCCTATTTTAGGTTTG 0.401 2 4 --- --- --- --- RP4-651E10.4 0 broad.mit.edu 37 1 87085726 87085726 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:87085726delT ENST00000456587.1 - 0 294 gagtcatctcttttcctcata 0.368 2 4 --- --- --- --- LINC01057 101928079 broad.mit.edu 37 1 95127535 95127535 + RNA DEL A A - rs34038557 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:95127535delA ENST00000452922.1 - 0 808 cccacaaaggaaaaaaaaaac 0.393 2 4 --- --- --- --- LOC102606465 102606465 broad.mit.edu 37 1 101546427 101546428 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:101546427_101546428insT ENST00000449473.1 + 0 661 RP11-421L21.3_ENST00000446527.1_RNA|RP11-421L21.3_ENST00000416329.1_RNA|RP11-421L21.3_ENST00000454721.1_RNA AGACAATTGTGTTTTTTTCCCT 0.391 2 4 --- --- --- --- LOC440600 440600 broad.mit.edu 37 1 110839462 110839462 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:110839462delA ENST00000449169.1 - 0 293 NR_036595.1 GAACCTAAAGAAAAAACGTGG 0.408 2 4 --- --- --- --- AL592494.5 0 broad.mit.edu 37 1 121182497 121182497 + RNA DEL A A - rs147643764 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:121182497delA ENST00000417218.1 + 0 551 gtctcaaaagaaaaaaaaaaa 0.393 3 4 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142804874 142804874 + RNA DEL T T - rs140820497 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:142804874delT ENST00000423385.1 - 0 356 ATTTTGCTGCTTTTTTTTTTT 0.303 3 5 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143144761 143144762 + RNA DEL AT AT - rs72470663 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:143144761_143144762delAT ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA tccctttaccatgggtttgaga 0.396 3 6 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143939946 143939947 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:143939946_143939947insT ENST00000467933.1 + 0 915 TTATGCAACACTTTTTTTTTGT 0.391 2 4 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 144011657 144011658 + RNA INS - - G rs66670828 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:144011657_144011658insG ENST00000467933.1 + 0 915 GGttcttttttttgttgtttgt 0.520 4 4 --- --- --- --- RNU1-120P 0 broad.mit.edu 37 1 147735878 147735879 + RNA INS - - G rs76706846 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:147735878_147735879insG ENST00000363009.1 + 0 128_129 tttgtggtagtggggggggctg 0.441 2 4 --- --- --- --- RP11-297H3.3 0 broad.mit.edu 37 1 170186518 170186518 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:170186518delG ENST00000439184.1 + 0 304 TTTTAAGCCTGGTCCCATAGT 0.383 2 4 --- --- --- --- LOC101928650 101928650 broad.mit.edu 37 1 170472432 170472433 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:170472432_170472433insG ENST00000416416.1 - 0 113 RP11-576I22.2_ENST00000456083.1_RNA GACAAAAATTTGGGGTTTTGCT 0.376 2 4 --- --- --- --- RP11-316I3.2 0 broad.mit.edu 37 1 188854355 188854355 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:188854355delA ENST00000414765.1 - 0 194 atatattgctaaaaagaaatt 0.294 2 4 --- --- --- --- LOC440704 440704 broad.mit.edu 37 1 190689707 190689708 + RNA DEL TT TT - rs79554792 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:190689707_190689708delTT ENST00000413356.1 + 0 144 NR_033922.1 TATCCTTTCATTTTTTTTTTTG 0.332 2 4 --- --- --- --- LINC01221 104266961 broad.mit.edu 37 1 199043197 199043198 + RNA DEL GT GT - rs71150944 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:199043197_199043198delGT ENST00000432488.1 + 0 450 ttgagtgtgagtgtgtgtgtgt 0.342 4 3 --- --- --- --- LINC00862 554279 broad.mit.edu 37 1 200325321 200325324 + RNA DEL AAAC AAAC - rs138089019 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:200325321_200325324delAAAC ENST00000367355.1 - 0 550 NR_040064.1 CTCCAGCTGTAAACAGTCCTTCTG 0.402 2 4 --- --- --- --- RP11-323I1.1 0 broad.mit.edu 37 1 213952906 213952906 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:213952906delA ENST00000456240.1 + 0 143 GTCGTGGTTTAAAAACTTGAT 0.403 2 4 --- --- --- --- LOC101929771 101929771 broad.mit.edu 37 1 222009840 222009847 + RNA DEL TGTGTGTG TGTGTGTG - rs72320493 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:222009840_222009847delTGTGTGTG ENST00000431729.1 - 0 277 tgtgtgtgtttgtgtgtgtgtgtgtgtg 0.495 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222403928 222403929 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr1:222403928_222403929insT ENST00000416510.1 - 0 167 GAAGTTTTTCATTTTTGCCACC 0.401 2 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2956420 2956421 + RNA DEL AG AG - rs35770430 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:2956420_2956421delAG ENST00000457478.1 - 0 594 acagacagacagacagacacac 0.431 4 3 --- --- --- --- LINC01248 102723818 broad.mit.edu 37 2 5753731 5753732 + RNA DEL AC AC - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:5753731_5753732delAC ENST00000458264.1 - 0 302 cattgttctaacacacacacac 0.371 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12464550 12464551 + RNA DEL TG TG - rs3056599 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:12464550_12464551delTG ENST00000412294.1 + 0 412 caatgatgtatgtgtgtgtgtg 0.416 2 4 --- --- --- --- AC010745.2 0 broad.mit.edu 37 2 16407935 16407935 + RNA DEL T T - rs78167150 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:16407935delT ENST00000420404.1 + 0 165 CAGTCCCCCCTCTTCCCCAGT 0.557 2 4 --- --- --- --- AC008069.1 0 broad.mit.edu 37 2 16911901 16911901 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:16911901delA ENST00000448650.1 + 0 56 tcccctccctagggaaaaaat 0.353 2 4 --- --- --- --- LINC01376 400945 broad.mit.edu 37 2 19173565 19173566 + RNA INS - - A rs35877119 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:19173565_19173566insA ENST00000424895.1 - 0 531 aaaggaaaaacaaaaaaaaaga 0.342 2 4 --- --- --- --- AC098828.2 0 broad.mit.edu 37 2 20271713 20271713 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:20271713delA ENST00000430429.1 - 0 90 CTTTGCTTCCAAAAAAAAAAG 0.433 OREG0004833 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 3 6 --- --- --- --- AC067959.1 0 broad.mit.edu 37 2 21484848 21484848 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:21484848delA ENST00000457901.1 + 0 110 GAAAGACAGTAAAAAAAAAAA 0.428 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22679253 22679254 + RNA INS - - T rs75583714 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:22679253_22679254insT ENST00000450551.1 - 0 70 AC096570.2_ENST00000419013.1_lincRNA CTGAACATATCTTTTTTTTTTT 0.342 2 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35106194 35106194 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:35106194delA ENST00000588944.1 + 0 115 atctcagaggaaaaaaaaaaa 0.433 4 3 --- --- --- --- CYP1B1-AS1 285154 broad.mit.edu 37 2 38337268 38337268 + RNA DEL A A - rs113401938 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:38337268delA ENST00000431999.1 + 0 420 CYP1B1-AS1_ENST00000593090.1_RNA|CYP1B1-AS1_ENST00000427168.2_RNA|CYP1B1-AS1_ENST00000589303.1_RNA GTCACCAACCAAAAAAAAAAA 0.473 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51342643 51342644 + RNA INS - - TC rs150439415 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:51342643_51342644insTC ENST00000440698.1 + 0 514 catgtctttggtctcattcaat 0.426 4 5 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51358142 51358142 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:51358142delT ENST00000440698.1 + 0 514 gcctgttgtgtcggaccaagt 0.413 4 2 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51406897 51406897 + RNA DEL A A - rs145085535 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:51406897delA ENST00000440698.1 + 0 514 ttaaaagaccaaaaaaaaaaa 0.348 2 4 --- --- --- --- MIR217HG 104355290 broad.mit.edu 37 2 56234144 56234144 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:56234144delT ENST00000606639.1 + 0 82 AC011306.2_ENST00000446139.1_lincRNA acttttaaacttttttttttt 0.363 4 2 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58697172 58697172 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:58697172delA ENST00000452840.1 + 0 195 TTTCCATCCTAATACATTCTG 0.393 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65762549 65762550 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:65762549_65762550insC ENST00000377977.3 + 0 862 ATGCCAGGAGGCCCCCCAAAGT 0.480 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65869833 65869834 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:65869833_65869834insA ENST00000377977.3 + 0 862 tccgtctcaggaaaaaaaaaaa 0.520 3 5 --- --- --- --- SLC9B1P2 389000 broad.mit.edu 37 2 92085952 92085953 + RNA DEL AT AT - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:92085952_92085953delAT ENST00000606405.1 - 0 167 tcagtgaaacataaagggaggc 0.347 4 6 --- --- --- --- LOC442028 442028 broad.mit.edu 37 2 95587173 95587173 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:95587173delA ENST00000568768.1 - 0 476 ttttgtctccaaaaaaaaaaG 0.443 3 3 --- --- --- --- AC069394.1 0 broad.mit.edu 37 2 138862371 138862372 + RNA DEL AA AA - rs79815081 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:138862371_138862372delAA ENST00000446520.1 + 0 124 acttcatctcaaaaaaaaaaaa 0.416 2 4 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145676603 145676604 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:145676603_145676604insC ENST00000445791.1 + 0 307 NR_033870.2 tagtccccccacccccccgcat 0.366 2 4 --- --- --- --- AC018731.3 0 broad.mit.edu 37 2 152008242 152008243 + RNA DEL TC TC - rs34430387 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:152008242_152008243delTC ENST00000447078.1 - 0 90 ATCCAATCCTTCTCTGTCTTTT 0.322 3 3 --- --- --- --- AC009313.1 0 broad.mit.edu 37 2 161980754 161980754 + RNA DEL C C - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:161980754delC ENST00000425470.1 - 0 165 caagccctaacccccctaacc 0.393 2 4 --- --- --- --- SLC4A10 57282 broad.mit.edu 37 2 162449091 162449091 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:162449091delT ENST00000605990.1 + 0 344 tgcccagctatttttttttta 0.428 3 3 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165125431 165125431 + RNA DEL C C - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:165125431delC ENST00000429636.1 - 0 104 ttataagggaccagggatgga 0.443 2 4 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175634655 175634656 + RNA INS - - A rs138301183 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:175634655_175634656insA ENST00000442996.1 + 0 321 tctgtgtcattaaaaaaaaaaa 0.500 2 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208167467 208167468 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:208167467_208167468insA ENST00000412387.1 - 0 315 acataaaatagaaaaacatttc 0.272 2 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208212868 208212868 + RNA DEL C C - rs141129622 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:208212868delC ENST00000418850.1 - 0 400 AC007879.5_ENST00000412387.1_RNA cagagacacacacaaaaaaaa 0.388 4 2 --- --- --- --- LOC102724861 102724861 broad.mit.edu 37 2 216411158 216411158 + RNA DEL G G - rs59140748 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:216411158delG ENST00000417485.2 + 0 216 TTTTTGTTTTGTTTTGTTTTT 0.468 4 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217710059 217710060 + RNA INS - - AGAA rs10666026 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:217710059_217710060insAGAA ENST00000447289.1 + 0 510 GAGAGAGAGAGAGGGTGTCTTG 0.450 4 8 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217815494 217815494 + RNA DEL C C - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:217815494delC ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA CTCCAGTGGTCAGAGGTCAGA 0.522 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221385831 221385831 + RNA DEL T T - rs11315974 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:221385831delT ENST00000414512.1 + 0 368 TTCACGCACCttttttttttt 0.388 2 4 --- --- --- --- AC009410.1 0 broad.mit.edu 37 2 229380756 229380757 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:229380756_229380757insA ENST00000432481.2 - 0 144 TTTCTTCTCAGAAAAAAAAATG 0.356 2 4 --- --- --- --- AC009410.1 0 broad.mit.edu 37 2 229443910 229443911 + RNA DEL TG TG - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:229443910_229443911delTG ENST00000432481.2 - 0 144 tgtgtgtatatgtgtgtgtgtg 0.356 2 4 --- --- --- --- AC105760.2 0 broad.mit.edu 37 2 237984097 237984097 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr2:237984097delT ENST00000418430.1 - 0 1662 TCAGGATAACTTCCCAGAGCC 0.393 2 4 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 624181 624182 + RNA INS - - A rs33927615 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:624181_624182insA ENST00000420823.1 + 0 97 TGGTTTGTTTTTTAGAACAAAT 0.282 5 2 --- --- --- --- AC026188.1 0 broad.mit.edu 37 3 3426030 3426030 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:3426030delT ENST00000455703.1 - 0 59 GGGTAAGAGGTTTAAAGCATg 0.512 2 4 --- --- --- --- LOC101927829 101927829 broad.mit.edu 37 3 20389718 20389718 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:20389718delT ENST00000455626.1 + 0 1827 TGCCTGTCAGTTTTGGGGAGA 0.383 2 4 --- --- --- --- AC098973.2 0 broad.mit.edu 37 3 27916101 27916101 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:27916101delT ENST00000414382.1 + 0 336 GTTGTTAGCATTTTTTGACAC 0.428 2 4 --- --- --- --- ITGA9-AS1 101928153 broad.mit.edu 37 3 37895761 37895762 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:37895761_37895762insG ENST00000366441.2 - 0 65 AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000429532.1_RNA CAGGGAATAAAGGGGGTACCTG 0.584 2 4 --- --- --- --- AC136289.1 0 broad.mit.edu 37 3 63791625 63791626 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:63791625_63791626insT ENST00000443346.1 - 0 622 TTTTGGTTTTGTTTTTTTATAC 0.455 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64688066 64688066 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:64688066delT ENST00000460833.1 + 0 430 ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA CAAGTATTCATTTTCAGAGTG 0.393 2 4 --- --- --- --- RP11-654C22.2 0 broad.mit.edu 37 3 72588945 72588945 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:72588945delA ENST00000478745.1 - 0 582 ttaaaaatttaaaaagatgag 0.413 2 4 --- --- --- --- LINC01215 101929623 broad.mit.edu 37 3 107856950 107856951 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:107856950_107856951insC ENST00000607746.1 + 0 2085_2086 CTGAACACACACCACCCCACAC 0.347 2 4 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 117995547 117995548 + RNA DEL CA CA - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:117995547_117995548delCA ENST00000482142.1 - 0 232 CACACATATGCACACACACACA 0.347 2 4 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 147029603 147029604 + RNA INS - - A rs150998283 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:147029603_147029604insA ENST00000473299.1 - 0 132 TCAGAGAGGAGAAAAAAAAAAC 0.347 2 4 --- --- --- --- RP11-501O2.4 0 broad.mit.edu 37 3 147953895 147953895 + RNA DEL T T - rs112962069 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:147953895delT ENST00000460324.1 - 0 317 GAATCGTAAATTTTTTTGCCT 0.408 4 3 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153136607 153136616 + RNA DEL TTTTTTTTTT TTTTTTTTTT - rs76065025 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:153136607_153136616delTTTTTTTTTT ENST00000493214.2 - 0 381 tatgaaattctttttttttttttttttttt 0.352 4 2 --- --- --- --- IL12A-AS1 101928376 broad.mit.edu 37 3 159846716 159846716 + RNA DEL T T - rs78699964 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:159846716delT ENST00000497452.1 - 0 517 gtccttggacttttttttttt 0.438 2 4 --- --- --- --- SAMD7 344658 broad.mit.edu 37 3 169646267 169646268 + Frame_Shift_Ins INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:169646267_169646268insG ENST00000428432.2 + 7 1331_1332 c.942_943insG c.(940-945)atggggfs p.MG314fs SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 314 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGTTACAATTGGGGGGAATCT 0.381 8 132 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177442580 177442580 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:177442580delG ENST00000442937.1 + 0 428 NR_047568.1 gcagtgcagagGCCTCCAACT 0.373 2 4 --- --- --- --- LINC00888 100505687 broad.mit.edu 37 3 183172643 183172643 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr3:183172643delT ENST00000471496.1 + 0 675 NR_038302.1 GTGCCTGGTATTTACTTCTGT 0.403 2 4 --- --- --- --- LOC101929095 101929095 broad.mit.edu 37 4 15197155 15197156 + RNA INS - - T rs114452258 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:15197155_15197156insT ENST00000502344.1 - 0 154 RP11-665G4.1_ENST00000513384.1_RNA gggtcactcccgggcattaact 0.520 2 4 --- --- --- --- RP11-3J1.1 0 broad.mit.edu 37 4 19388782 19388782 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:19388782delA ENST00000505347.1 - 0 349 TGAATGAGATAAAAAAAGTAA 0.353 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19551090 19551091 + RNA INS - - T rs146093698 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:19551090_19551091insT ENST00000511431.1 + 0 288 catcatcatgattttttttagc 0.347 2 4 --- --- --- --- RP11-25H12.1 0 broad.mit.edu 37 4 66935398 66935399 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:66935398_66935399insA ENST00000508572.1 + 0 463 agactttaagcaaaaaactgta 0.307 2 4 --- --- --- --- LINC01088 100505875 broad.mit.edu 37 4 79911279 79911280 + RNA DEL TG TG - rs66970699 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:79911279_79911280delTG ENST00000509088.1 + 0 182 RP11-438E5.1_ENST00000510667.1_RNA NR_038342.1 tgcgtgtgtttgtgtgtgtgtg 0.569 3 3 --- --- --- --- RASGEF1B 153020 broad.mit.edu 37 4 82741045 82741046 + RNA DEL AA AA - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:82741045_82741046delAA ENST00000510780.1 - 0 390 ACTTCCCTGCAAAAAAAAAAAA 0.312 3 3 --- --- --- --- LOC100507053 100507053 broad.mit.edu 37 4 100094283 100094284 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:100094283_100094284insT ENST00000500358.2 + 0 3714 RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA NR_037884.1 ttctatttaccagtattttatt 0.351 6 3 --- --- --- --- LINC01378 103689918 broad.mit.edu 37 4 118537600 118537600 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:118537600delA ENST00000422145.3 + 0 159 acatgcatgcatatgttcatt 0.303 3 3 --- --- --- --- RP11-679C8.2 0 broad.mit.edu 37 4 121276848 121276849 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:121276848_121276849insA ENST00000508362.1 + 0 286 RP11-679C8.2_ENST00000504106.1_RNA TTCAAGAGTGCAAAAAGCATTA 0.356 2 4 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128068853 128068853 + RNA DEL T T - rs139503329 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:128068853delT ENST00000504050.1 - 0 483 tccttttttcttttttttttt 0.453 3 4 --- --- --- --- CTD-2012I17.1 0 broad.mit.edu 37 4 135704772 135704773 + RNA INS - - AT TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:135704772_135704773insAT ENST00000504882.1 + 0 231 gttcatcagggatattggcctg 0.391 2 4 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155244402 155244405 + Frame_Shift_Del DEL TTTG TTTG - rs112727159 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:155244402_155244405delTTTG ENST00000339452.1 - 8 4455_4458 c.4095_4098delCAAA c.(4093-4098)aafs p.NK1365fs DCHS2_ENST00000357232.3_Intron NM_001142552.1 NP_001136024.1 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1234 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) aggtCAGGATtttgtttgtttgtt 0.377 5 1 --- --- --- --- RP11-217C7.1 0 broad.mit.edu 37 4 167434110 167434110 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:167434110delA ENST00000514134.1 - 0 152 gacatttttcaaaagaagaca 0.318 6 1 --- --- --- --- RP11-310I9.1 0 broad.mit.edu 37 4 168966707 168966708 + RNA DEL CA CA - rs111499593 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr4:168966707_168966708delCA ENST00000506926.1 - 0 103 CCTTGTGCCTcacacacacaca 0.406 3 4 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4650512 4650512 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:4650512delA ENST00000507435.1 - 0 429 ATGATAAAGGAAAAACATCTA 0.398 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 6971637 6971638 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:6971637_6971638insG ENST00000512838.1 + 0 69 gagtggggggaggggggaagga 0.490 2 4 --- --- --- --- LOC100653061 100653061 broad.mit.edu 37 5 34181239 34181240 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:34181239_34181240insC ENST00000514048.1 - 0 231 TTTTACATCTTCCCCCCACCAT 0.525 2 4 --- --- --- --- CTD-2116N24.1 0 broad.mit.edu 37 5 38124112 38124113 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:38124112_38124113insC ENST00000513039.2 + 0 233 gcagggtacagcccccctcctg 0.535 2 4 --- --- --- --- CTC-340D7.1 0 broad.mit.edu 37 5 68178870 68178871 + RNA INS - - T rs66795123 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:68178870_68178871insT ENST00000503268.1 - 0 377 p.0?(1) aaaaaaaaggctagacgaggtg 0.525 2 4 --- --- --- --- CTC-340D7.1 0 broad.mit.edu 37 5 68251607 68251608 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:68251607_68251608insA ENST00000503268.1 - 0 377 p.0?(1) TAGATTAGTGGAAAAAAGTCCT 0.426 2 4 --- --- --- --- RP11-72L22.1 0 broad.mit.edu 37 5 86422973 86422973 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:86422973delG ENST00000503349.1 + 0 343 AGTGAGCTCAGGAAGGAAGTA 0.478 2 4 --- --- --- --- CTC-498M16.4 0 broad.mit.edu 37 5 87748856 87748859 + RNA DEL TAGT TAGT - rs35350050 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:87748856_87748859delTAGT ENST00000504034.2 - 0 25 gatctcctggtagttagtttctgt 0.480 2 4 --- --- --- --- MEF2C-AS1 101929423 broad.mit.edu 37 5 88595381 88595388 + RNA DEL ACACACAC ACACACAC - rs55923004 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:88595381_88595388delACACACAC ENST00000512585.1 + 0 319 MEF2C-AS1_ENST00000514092.1_RNA agtattctaaacacacacacacacacac 0.332 3 4 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 103931870 103931871 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:103931870_103931871insC ENST00000503650.1 - 0 328 tacctcaaattcccccccacac 0.465 3 5 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104671817 104671818 + RNA INS - - A rs58095692 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:104671817_104671818insA ENST00000503650.1 - 0 210 atagctattacaaaaaaaaaaa 0.327 4 4 --- --- --- --- APC 324 broad.mit.edu 37 5 112175753 112175771 + Frame_Shift_Del DEL TTATTACATTTTGCCACGG TTATTACATTTTGCCACGG - rs41115 byFrequency TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:112175753_112175771delTTATTACATTTTGCCACGG ENST00000457016.1 + 16 4842_4860 c.4462_4480delTTATTACATTTTGCCACGG c.(4462-4482)aafs p.LLHFATE1488fs APC_ENST00000257430.4_Frame_Shift_Del_p.LLHFATE1488fs|APC_ENST00000508376.2_Frame_Shift_Del_p.LLHFATE1488fs|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1488 Ser-rich. 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.F1491fs*16(23)|p.T1493fs*14(21)|p.L1488fs*18(18)|p.L1488fs*19(13)|p.T1487fs*17(10)|p.E1494fs*13(9)|p.H1490fs*17(4)|p.L1488fs*26(4)|p.L1489fs*19(4)|p.A1492fs*22(4)|p.L1488*(3)|p.L1488fs*23(3)|p.A1492fs*15(3)|p.H1490fs*23(3)|p.L1489fs*18(3)|p.E1494fs*19(3)|p.H1490fs*15(2)|p.L1488fs*20(2)|p.L1488fs*25(2)|p.H1490fs*24(2)|p.T1493fs*21(2)|p.K1454fs*3(1)|p.T1493fs*13(1)|p.L1489fs*23(1)|p.T1487fs*25(1)|p.T1493fs*17(1)|p.L1488fs*22(1)|p.T1487fs*23(1)|p.L1489V(1)|p.S1495fs*19(1)|p.?(1)|p.L1488F(1)|p.H1490Y(1)|p.K1192fs*3(1)|p.L1489*(1)|p.?fs(1)|p.L1488fs*13(1)|p.F1491fs*17(1)|p.E1494*(1)|p.E1494fs*12(1)|p.E1494fs*11(1)|p.F1491L(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) TGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCC 0.434 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) 7 44 --- --- --- --- RP11-508M8.1 0 broad.mit.edu 37 5 124468216 124468217 + RNA DEL CA CA - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:124468216_124468217delCA ENST00000512965.1 + 0 49 gattcatacccacccgcattag 0.431 2 4 --- --- --- --- LOC101927460 101927460 broad.mit.edu 37 5 124865529 124865529 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:124865529delA ENST00000564199.1 + 0 324 TTTGGAGACCAAAAATATGAT 0.348 2 4 --- --- --- --- CTC-575N7.1 0 broad.mit.edu 37 5 129198233 129198233 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:129198233delA ENST00000503616.1 - 0 121 CTC-575N7.1_ENST00000515569.1_RNA accctgtctcaaaaaaaaaaa 0.403 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162677017 162677018 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:162677017_162677018insT ENST00000509211.1 - 0 117 RP11-541P9.3_ENST00000458002.2_RNA taatggctaaatttttttaaaa 0.347 2 4 --- --- --- --- CTC-207P7.1 0 broad.mit.edu 37 5 163556896 163556897 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr5:163556896_163556897insT ENST00000521805.1 - 0 495 ttgcttgctccttttgttcagg 0.480 2 4 --- --- --- --- RP1-167F1.2 0 broad.mit.edu 37 6 19631434 19631435 + RNA INS - - TG rs5874721 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr6:19631434_19631435insTG ENST00000432171.2 - 0 366 TGTTTAAAATCtgtgtgtgtgt 0.391 4 3 --- --- --- --- HCG17 414778 broad.mit.edu 37 6 30227536 30227537 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr6:30227536_30227537insG ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA ccgcccggcccggggagccgcg 0.733 4 2 --- --- --- --- RP1-179N16.6 0 broad.mit.edu 37 6 36147689 36147689 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr6:36147689delA ENST00000499560.2 - 0 265 RP1-179N16.6_ENST00000526611.1_RNA atcagagatgaaaaaaaaagt 0.343 2 4 --- --- --- --- LOC101927640 101927640 broad.mit.edu 37 6 112629375 112629376 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr6:112629375_112629376insC ENST00000587816.1 + 0 111 RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA ATTTCTCACTGCCCCCCCTTCC 0.535 2 4 --- --- --- --- TARID 100507308 broad.mit.edu 37 6 133956549 133956550 + RNA INS - - C rs151277487 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr6:133956549_133956550insC ENST00000607033.1 - 0 623 RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606292.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA GATTTGAGATAGTCTAAGAGGG 0.411 5 2 --- --- --- --- LOC102724087 102724087 broad.mit.edu 37 6 161355020 161355020 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr6:161355020delT ENST00000417479.1 + 0 293 ATCCAACCTGTTTTGGAACAT 0.343 2 4 --- --- --- --- LINC01162 104355138 broad.mit.edu 37 7 20959748 20959749 + RNA INS - - T rs35951194 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:20959748_20959749insT ENST00000447262.2 + 0 151 TGGGTGTCTCCTTTTTTTTTTT 0.416 4 3 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 22971313 22971314 + RNA INS - - T rs59246635 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:22971313_22971314insT ENST00000421730.1 - 0 137 tagactgatggtaaaaatgtga 0.361 3 4 --- --- --- --- AC006380.3 0 broad.mit.edu 37 7 31456564 31456565 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:31456564_31456565insA ENST00000433356.1 - 0 38 ATTTCAGCAAGAAAAAAAAAAG 0.386 2 4 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34530445 34530447 + RNA DEL AAT AAT - rs10564848 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:34530445_34530447delAAT ENST00000419766.1 - 0 310 NR_033664.1|NR_033665.1 gaagatgcacaataataaaatag 0.443 3 5 --- --- --- --- RP11-3P22.2 0 broad.mit.edu 37 7 68733535 68733539 + RNA DEL TTTTG TTTTG - rs71737055 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:68733535_68733539delTTTTG ENST00000435148.1 - 0 590 CTATGTGTGTttttgttttgttttg 0.512 3 5 --- --- --- --- AC003988.1 0 broad.mit.edu 37 7 79897446 79897447 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:79897446_79897447insT ENST00000447198.2 - 0 202 TAAGTATTTCGTTTTTTGTAAA 0.302 2 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89778186 89778187 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:89778186_89778187insG ENST00000478318.2 - 0 424 GTTCAGCATTTGGGGGGTGCCA 0.455 2 4 --- --- --- --- DLX6-AS1 285987 broad.mit.edu 37 7 96606809 96606810 + RNA INS - - CA rs34992864 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:96606809_96606810insCA ENST00000430027.2 - 0 1386 DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA NR_015448.1 TTTGCCACTTTCACacacacac 0.376 2 4 --- --- --- --- AC004014.3 0 broad.mit.edu 37 7 108583007 108583008 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:108583007_108583008insG ENST00000413406.1 + 0 75 cgccactactagggggtgcctc 0.550 2 4 --- --- --- --- RP11-328J2.1 0 broad.mit.edu 37 7 119469615 119469616 + RNA DEL GT GT - rs10538380 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:119469615_119469616delGT ENST00000426413.1 - 0 83 attcccccacgtgtgtgtgtgt 0.351 4 8 --- --- --- --- AC016831.7 0 broad.mit.edu 37 7 130560620 130560620 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:130560620delA ENST00000447430.1 + 0 156 gcagccgtacaagcatggcac 0.483 2 4 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 135828743 135828743 + RNA DEL T T - rs112107338 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr7:135828743delT ENST00000445293.2 + 0 230 agaatccaagttttttttttt 0.343 2 4 --- --- --- --- RP11-962G15.1 0 broad.mit.edu 37 8 36465021 36465022 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:36465021_36465022insA ENST00000524132.1 - 0 484 cccacaactccaaaaacattct 0.396 2 4 --- --- --- --- RP11-346L1.2 0 broad.mit.edu 37 8 37513298 37513299 + RNA DEL GT GT - rs35865529 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:37513298_37513299delGT ENST00000519978.1 - 0 426 gcgcatgtgcgtgtgtgtgtgt 0.450 2 4 --- --- --- --- LOC101929268 101929268 broad.mit.edu 37 8 49539092 49539093 + RNA DEL GA GA - rs35440877 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:49539092_49539093delGA ENST00000522575.1 + 0 356 gtgtgtgtgtgAGAGAGAGAGA 0.545 4 5 --- --- --- --- RP11-120I21.2 0 broad.mit.edu 37 8 85032797 85032798 + RNA INS - - T rs75212095 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:85032797_85032798insT ENST00000523678.1 + 0 279 CTCTCTTCCCATTTTTTTTTTT 0.386 5 4 --- --- --- --- RP11-386D6.2 0 broad.mit.edu 37 8 87806190 87806190 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:87806190delA ENST00000520649.1 + 0 449 TTTCCCTTGGAAAAAAAAAAA 0.403 4 2 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89434738 89434739 + RNA DEL AA AA - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:89434738_89434739delAA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA acacacacacaAAAACAAAACC 0.327 2 4 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96659579 96659580 + RNA DEL AC AC - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:96659579_96659580delAC ENST00000521905.1 + 0 320 gatgttacaaacacacacacac 0.371 2 4 --- --- --- --- RP11-238I10.1 0 broad.mit.edu 37 8 111630555 111630555 + RNA DEL C C - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:111630555delC ENST00000523264.1 + 0 66 ccctcctcctcccccactcct 0.517 5 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117070191 117070192 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:117070191_117070192insG ENST00000505156.2 - 0 1558 NR_046215.1 cttgtgataatgggggggtcta 0.426 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117231464 117231464 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:117231464delA ENST00000505156.2 - 0 1333 NR_046215.1 TAATATTTGTAAAAAAAACTT 0.318 2 4 --- --- --- --- CASC8 727677 broad.mit.edu 37 8 128401979 128401980 + RNA INS - - T rs142175522 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:128401979_128401980insT ENST00000502082.1 - 0 1176 CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|RP11-382A18.2_ENST00000521586.1_lincRNA CTGCATATATGtttttttttta 0.411 4 6 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130558287 130558288 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:130558287_130558288insG ENST00000446592.3 - 0 312 AATGAATGGTTGGGGGGGTGAG 0.455 2 4 --- --- --- --- CTD-2534J5.1 0 broad.mit.edu 37 8 140133448 140133448 + RNA DEL T T - rs34333333 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:140133448delT ENST00000517640.1 - 0 228 GAATAATGGGTTTGGGCTATT 0.363 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142517130 142517131 + RNA INS - - G rs11464845 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr8:142517130_142517131insG ENST00000430863.1 - 0 161 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TGAGTACCGGTGGGGGGGGGTC 0.668 4 3 --- --- --- --- CDKN2B-AS1 100048912 broad.mit.edu 37 9 22119511 22119512 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr9:22119511_22119512insA ENST00000428597.1 + 0 3032 CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000422420.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA NR_003529.3 GAACAAGGAAGAAAAAAAGGGT 0.386 2 4 --- --- --- --- LOC101928438 101928438 broad.mit.edu 37 9 102478225 102478226 + RNA INS - - TCTC rs113492451 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr9:102478225_102478226insTCTC ENST00000427039.1 - 0 319 ccttttgcctgtctctctctct 0.490 3 3 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 113966734 113966735 + RNA DEL AC AC - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr9:113966734_113966735delAC ENST00000426204.1 - 0 370 gttggagaggacacacacacac 0.376 3 5 --- --- --- --- LINC00474 58483 broad.mit.edu 37 9 118675038 118675039 + RNA DEL TT TT - rs34311686 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr9:118675038_118675039delTT ENST00000374014.3 - 0 185 NR_024032.1 AACTTCAAGCTTTTTTTTTTTT 0.361 2 4 --- --- --- --- AKR1C7P 648947 broad.mit.edu 37 10 5327729 5327730 + RNA INS - - CTAA rs146676349 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:5327729_5327730insCTAA ENST00000432689.2 - 0 81 AATACATTGTTCTGAGACCACA 0.361 4 4 --- --- --- --- CCNYL2 414194 broad.mit.edu 37 10 42940911 42940911 + RNA DEL A A - rs56213924 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:42940911delA ENST00000483242.3 - 0 698 NR_103829.1 cyclin Y-like 2 breast(2)|endometrium(1)|lung(3)|ovary(1) 7 gcttcaggctaaaaaaaaaaa 0.393 4 2 --- --- --- --- RP11-445N18.7 0 broad.mit.edu 37 10 45652086 45652087 + RNA INS - - A rs77869897 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:45652086_45652087insA ENST00000427229.2 + 0 1739 agactcagtctaaaaaaaaaaa 0.431 2 4 --- --- --- --- RBM20 282996 broad.mit.edu 37 10 112581637 112581638 + Frame_Shift_Ins INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:112581637_112581638insC ENST00000369519.3 + 11 3318_3319 c.3260_3261insC c.(3259-3261)accfs p.T1087fs NM_001134363.1 NP_001127835.1 Q5T481 RBM20_HUMAN RNA binding motif protein 20 1087 nucleus nucleotide binding|RNA binding|zinc ion binding p.I1090fs*4(1) autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2) 12 GAGAAAGCCAGCCCCCCCATCG 0.594 3 3 --- --- --- --- RP11-95I16.2 0 broad.mit.edu 37 10 122739662 122739663 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:122739662_122739663insG ENST00000414774.1 - 0 49 GCTCAGCCCTTGGGGGCTGAGG 0.639 2 4 --- --- --- --- RP11-282I1.1 0 broad.mit.edu 37 10 125175267 125175267 + RNA DEL A A - rs35273863 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr10:125175267delA ENST00000448347.1 + 0 586 AGTGGTTCACAAAAAAAGTCA 0.323 7 1 --- --- --- --- RP11-98J9.2 0 broad.mit.edu 37 11 13875228 13875228 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:13875228delG ENST00000530492.1 - 0 78 RP11-98J9.3_ENST00000525381.1_lincRNA atgtgcagctggaaaccctcc 0.517 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14122320 14122320 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:14122320delT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TACAAGAGTATTTTTATAATA 0.318 2 4 --- --- --- --- RP11-945A11.2 0 broad.mit.edu 37 11 23824680 23824680 + RNA DEL T T - rs113329759 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:23824680delT ENST00000525512.1 - 0 120 tatgtATATAttttttttttt 0.453 2 4 --- --- --- --- BDNF-AS 497258 broad.mit.edu 37 11 27630850 27630851 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:27630850_27630851insG ENST00000499008.3 + 0 213 BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000501176.2_RNA NR_002832.2 GAAATCAAATAGGGGGGCATAC 0.322 2 4 --- --- --- --- CTD-3138F19.1 0 broad.mit.edu 37 11 29859967 29859968 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:29859967_29859968insT ENST00000530249.1 + 0 343 AAAATATTGCCTTTTCCACAAA 0.312 2 4 --- --- --- --- RP11-148I19.1 0 broad.mit.edu 37 11 42127387 42127388 + RNA INS - - A rs111985430 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:42127387_42127388insA ENST00000534059.1 - 0 220 ccatctccaataaaaaaaaaaa 0.386 3 3 --- --- --- --- RP11-430H10.4 0 broad.mit.edu 37 11 45518473 45518473 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:45518473delA ENST00000528445.1 - 0 530 RP11-958J22.1_ENST00000533315.1_RNA gtaataccctaaaaaaaattc 0.313 2 4 --- --- --- --- RP11-626H12.2 0 broad.mit.edu 37 11 69863382 69863383 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:69863382_69863383insA ENST00000528507.1 - 0 301 AACGGAACTGCAAAAAGTCTAC 0.396 2 4 --- --- --- --- LOC102723895 102723895 broad.mit.edu 37 11 104461239 104461243 + RNA DEL GGTAT GGTAT - rs61191456 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr11:104461239_104461243delGGTAT ENST00000536529.1 - 0 60 ctagccaatgggtatggtatgcttc 0.424 6 4 --- --- --- --- RP11-606D9.1 0 broad.mit.edu 37 12 17751478 17751479 + RNA INS - - ACAC rs61454840 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:17751478_17751479insACAC ENST00000539105.1 + 0 127 tgtatgtgtatacacacacaca 0.317 2 4 --- --- --- --- RP11-606D9.1 0 broad.mit.edu 37 12 17752946 17752949 + RNA DEL TGTA TGTA - rs113134577 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:17752946_17752949delTGTA ENST00000539105.1 + 0 127 tctatacctttgtatgtatgtatg 0.377 3 4 --- --- --- --- RP11-168J19.2 0 broad.mit.edu 37 12 65413112 65413112 + RNA DEL T T - rs143771244 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:65413112delT ENST00000360528.2 + 0 140 aactctctggttttttttttt 0.473 3 4 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67401258 67401259 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:67401258_67401259insC ENST00000535721.1 - 0 113 ACTCCCCTCATCCCCCCCAAAA 0.361 2 4 --- --- --- --- LINC01481 101928062 broad.mit.edu 37 12 70430783 70430786 + RNA DEL ACAC ACAC - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:70430783_70430786delACAC ENST00000549419.1 - 0 144 TATacacacaacacacacacacac 0.377 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76033877 76033878 + RNA INS - - GT rs147992363 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:76033877_76033878insGT ENST00000552856.1 - 0 401 ATGAGTGTATCgtgtgtgtgtg 0.332 5 3 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76371418 76371418 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:76371418delT ENST00000552856.1 - 0 295 acacacGTAATTTtttttttt 0.403 3 4 --- --- --- --- RP11-511B23.2 0 broad.mit.edu 37 12 93576745 93576745 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:93576745delT ENST00000547432.1 - 0 316 RP11-511B23.2_ENST00000549930.1_RNA tctttttttcttttttttttt 0.448 2 4 --- --- --- --- RP11-541G9.1 0 broad.mit.edu 37 12 97405656 97405657 + RNA INS - - ACAC TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:97405656_97405657insACAC ENST00000552238.1 + 0 39 TAGTCATGTAAacacacacaca 0.366 2 4 --- --- --- --- RP11-541G9.1 0 broad.mit.edu 37 12 97444799 97444799 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:97444799delT ENST00000552238.1 + 0 39 RP11-397H6.1_ENST00000549896.1_lincRNA TCCTTTTTTATTATCTTTTGG 0.289 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131967722 131967722 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr12:131967722delA ENST00000535133.1 - 0 195 tgcctgcctgAAGCAGGGTGA 0.512 2 4 --- --- --- --- RP11-266E6.3 0 broad.mit.edu 37 13 35232146 35232147 + RNA INS - - A rs67218311 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:35232146_35232147insA ENST00000606365.1 - 0 183 TCTGTGTGGGGAAAAAAAAAAA 0.396 2 4 --- --- --- --- GUCY1B2 2974 broad.mit.edu 37 13 51591405 51591406 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:51591405_51591406insG ENST00000493639.2 - 0 1433 NR_003923.2 atcatatcacagggggcaagca 0.520 2 4 --- --- --- --- ATXN8OS 6315 broad.mit.edu 37 13 70683846 70683847 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:70683846_70683847insA ENST00000424524.1 + 0 108 ATXN8OS_ENST00000414504.2_RNA GTTTATTAAGCAAAAAACCCTT 0.322 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101609047 101609048 + RNA DEL TG TG - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:101609047_101609048delTG ENST00000457843.1 + 0 141 NR_047687.1 CATACACACTTGTGTGTGTGTG 0.416 2 4 --- --- --- --- RP11-54H7.2 0 broad.mit.edu 37 13 109939689 109939689 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr13:109939689delT ENST00000455487.1 + 0 306 TATCTCCCAGTTTTATGTGGT 0.383 2 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 27796210 27796210 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:27796210delT ENST00000553392.1 - 0 262 agctcatagattttgccttca 0.348 2 4 --- --- --- --- AL162759.1 0 broad.mit.edu 37 14 54258662 54258663 + RNA INS - - ATT TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:54258662_54258663insATT ENST00000418927.1 - 0 580 GTGAGGGAACAATTATAACTCC 0.342 2 4 --- --- --- --- RP11-526N18.1 0 broad.mit.edu 37 14 80360026 80360027 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:80360026_80360027insC ENST00000554307.1 - 0 366 tcctgcctcaaccccccaagta 0.550 2 4 --- --- --- --- DIO2-AS1 100628307 broad.mit.edu 37 14 80716738 80716739 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:80716738_80716739insT ENST00000553979.1 + 0 178 NR_038355.1 tcgttttattcttttttctcta 0.401 2 4 --- --- --- --- RP11-666E17.1 0 broad.mit.edu 37 14 82309211 82309212 + RNA DEL GT GT - rs10543551 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:82309211_82309212delGT ENST00000554814.1 + 0 315 gtgtgcgtgcgtgtgtgtgtgt 0.455 3 3 --- --- --- --- LOC101928767 101928767 broad.mit.edu 37 14 86538174 86538175 + RNA INS - - AGAG TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:86538174_86538175insAGAG ENST00000553668.1 + 0 182 gagagagagaaagagagaaaga 0.446 3 4 --- --- --- --- RP11-736P16.1 0 broad.mit.edu 37 14 87448894 87448895 + RNA DEL CT CT - rs35341170 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr14:87448894_87448895delCT ENST00000554181.1 + 0 188 aatctctccactctctctctct 0.421 5 5 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20600895 20600895 + RNA DEL T T - rs61665666 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:20600895delT ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCCCTACTATTAGCTATAAT 0.333 5 11 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20616749 20616750 + RNA INS - - TT rs4491484 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:20616749_20616750insTT ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TAATCCTTTCGtttttttttta 0.327 2 4 --- --- --- --- LOC101927079 101927079 broad.mit.edu 37 15 22305874 22305875 + RNA DEL CT CT - rs145001744 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:22305874_22305875delCT ENST00000558896.1 + 0 99 aatcgcccccctgatattgCAG 0.386 3 5 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25552240 25552241 + RNA DEL TT TT - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:25552240_25552241delTT ENST00000554726.1 + 0 245 SNHG14_ENST00000452731.1_RNA cctagattcatttttttTTTTT 0.307 4 7 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39266615 39266615 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:39266615delT ENST00000560197.1 - 0 170 RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA AATTCGCCTCTACTTTAGAAA 0.343 3 4 --- --- --- --- DUOX1 53905 broad.mit.edu 37 15 45457005 45457006 + Frame_Shift_Ins INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:45457005_45457006insC ENST00000321429.4 + 35 4969_4970 c.4562_4563insC c.(4561-4563)gccfs p.A1521fs DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1521 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.G1524fs*26(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TTTAGCTGTGGCCCCCCTGGCA 0.545 7 281 --- --- --- --- RP11-209E8.1 0 broad.mit.edu 37 15 53409025 53409025 + RNA DEL T T - rs66684830 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:53409025delT ENST00000559915.1 + 0 94 TTTTTTCGTGTTTTTTTTTTT 0.294 4 2 --- --- --- --- RP11-648K4.2 0 broad.mit.edu 37 15 88164889 88164889 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:88164889delA ENST00000560439.1 - 0 80 acaaggatttaaaaaaaaaaa 0.348 4 3 --- --- --- --- NTRK3-AS1 283738 broad.mit.edu 37 15 88814040 88814041 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:88814040_88814041insC ENST00000569588.1 + 0 2406_2407 NR_038229.1 TCCCTAACAAGCCCCCCAATTT 0.475 2 4 --- --- --- --- LINC01579 283682 broad.mit.edu 37 15 94409710 94409713 + RNA DEL ACTC ACTC - rs140881721 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:94409710_94409713delACTC ENST00000557481.2 - 0 430 RP11-76E17.3_ENST00000554530.1_lincRNA CACATGACTTACTCACCTAAGCTT 0.426 2 4 --- --- --- --- LINC01581 101927112 broad.mit.edu 37 15 94627513 94627516 + RNA DEL GTGT GTGT - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr15:94627513_94627516delGTGT ENST00000558874.1 - 0 60 TGCTGGGCACgtgtgtgtgtgtgt 0.480 3 3 --- --- --- --- FBRS 64319 broad.mit.edu 37 16 30681558 30681559 + Frame_Shift_Ins INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:30681558_30681559insG ENST00000395073.2 + 13 1663_1664 c.1136_1137insG c.(1135-1137)cggfs p.R379fs FBRS_ENST00000287468.5_3'UTR|FBRS_ENST00000356166.6_3'UTR|FBRS_ENST00000568722.1_3'UTR Q9HAH7 FBRS_HUMAN fibrosin 0 Pro-rich. ovary(1) 1 Colorectal(24;0.103) AGGGGACTGCAGGGGGAAGAGC 0.629 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32031891 32031892 + RNA INS - - G rs138909480 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:32031891_32031892insG ENST00000566806.1 - 0 499 GAAAATGCCCAGGGGGGCCCAG 0.574 2 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58924419 58924420 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:58924419_58924420insC ENST00000500117.1 + 0 679 ATAGCTTTTTTCCCCCCCAGAA 0.297 2 4 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 60028598 60028598 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:60028598delA ENST00000568279.1 + 0 173 CTTGAGACTCAAAAAATAATA 0.274 2 4 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64358902 64358902 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:64358902delT ENST00000561657.1 - 0 381 TCTGAGACCCTTATGTTTCTG 0.358 2 4 --- --- --- --- RP11-256I9.3 0 broad.mit.edu 37 16 65317699 65317700 + RNA DEL CA CA - rs71814385 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:65317699_65317700delCA ENST00000562656.1 + 0 271 ctctctctctcacacacacaca 0.470 6 5 --- --- --- --- RP11-525K10.1 0 broad.mit.edu 37 16 80141621 80141628 + RNA DEL ACACACAC ACACACAC - rs56852502 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:80141621_80141628delACACACAC ENST00000567851.1 + 0 405 agtgctctcaacacacacacacacacac 0.327 3 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80339073 80339074 + RNA INS - - T rs72528126 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:80339073_80339074insT ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.3_ENST00000568819.1_RNA GCACGTGGATATTTTTTGTGCT 0.302 2 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80466949 80466949 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr16:80466949delA ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.3_ENST00000568819.1_RNA TGTCAGGAGCAAAACAAGACC 0.378 2 4 --- --- --- --- RP11-64J4.2 0 broad.mit.edu 37 17 3199096 3199097 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:3199096_3199097insA ENST00000573491.1 - 0 359 tgtttgaattcaaaaaagtcag 0.317 2 4 --- --- --- --- AC022816.2 0 broad.mit.edu 37 17 14279099 14279100 + RNA INS - - T rs71361435 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:14279099_14279100insT ENST00000436469.1 + 0 90 tgcccggctaattttttttttt 0.535 4 1 --- --- --- --- LOC101927239 101927239 broad.mit.edu 37 17 32505153 32505156 + RNA DEL AAAC AAAC - rs113433713 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:32505153_32505156delAAAC ENST00000579438.1 + 0 1597_1600 RP11-215E13.1_ENST00000566930.2_lincRNA CAACATGGTaaaacaaacaaataa 0.436 4 4 --- --- --- --- RP11-1094H24.3 0 broad.mit.edu 37 17 48087005 48087006 + RNA INS - - C rs79709032 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:48087005_48087006insC ENST00000511867.1 + 0 139 tttttttttttccccaagatgg 0.495 3 3 --- --- --- --- RP11-429O1.1 0 broad.mit.edu 37 17 50579720 50579720 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:50579720delG ENST00000572848.1 + 0 76 GTGGTGATCTGGGGAAACATT 0.333 2 4 --- --- --- --- SOX9-AS1 400618 broad.mit.edu 37 17 70037144 70037145 + RNA INS - - T rs138991996 by1000genomes TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr17:70037144_70037145insT ENST00000540802.1 - 0 272 TGCTTTACGTGTTTTGATGCCA 0.381 2 4 --- --- --- --- RP11-595B24.1 0 broad.mit.edu 37 18 19563386 19563387 + RNA INS - - T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr18:19563386_19563387insT ENST00000584898.1 + 0 39 gcaatggttggtttttaaaaag 0.327 2 4 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22320481 22320482 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr18:22320481_22320482insC ENST00000582650.1 + 0 235 aataaagatttccccccacccc 0.381 2 4 --- --- --- --- GAREM 64762 broad.mit.edu 37 18 29827188 29827189 + RNA INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr18:29827188_29827189insC ENST00000581134.1 - 0 277 tttatccctcaccccctcccac 0.421 2 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 36916248 36916249 + RNA INS - - A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr18:36916248_36916249insA ENST00000591629.1 - 0 440 NR_024391.1 GAGAACAGGTGAAAAAGAGACT 0.416 2 4 --- --- --- --- LINC01538 400654 broad.mit.edu 37 18 61913869 61913869 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr18:61913869delG ENST00000588074.1 - 0 443 RP11-146N18.1_ENST00000589376.1_lincRNA NR_033983.1 ATTGCATAAAGGGGTTTGTCC 0.348 3 3 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10600356 10600356 + Frame_Shift_Del DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:10600356delA ENST00000171111.5 - 4 2046 c.1499delT c.(1498-1500)acfs p.I500fs KEAP1_ENST00000393623.2_Frame_Shift_Del_p.I500fs NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATTGCTGTGATCATTCGCCA 0.582 6 10 --- --- --- --- AC005780.1 0 broad.mit.edu 37 19 28856094 28856094 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:28856094delA ENST00000592311.1 - 0 250 actctgtctcaaaaaaacaaa 0.443 2 4 --- --- --- --- LOC284395 284395 broad.mit.edu 37 19 29808941 29808942 + RNA INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:29808941_29808942insG ENST00000582581.1 - 0 2030 NR_040029.1 GTGTTCATGTTGGGGGCTCTCA 0.495 2 4 --- --- --- --- CTC-439O9.3 0 broad.mit.edu 37 19 31691913 31691913 + RNA DEL A A - rs78817086 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:31691913delA ENST00000589511.1 + 0 337 gtgtcaggggaaaaaaatgta 0.308 5 1 --- --- --- --- AC007796.1 0 broad.mit.edu 37 19 31908649 31908649 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:31908649delA ENST00000585336.1 + 0 509 GCCTGAAGAGAACAGGTTGCA 0.532 2 4 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42857115 42857116 + Frame_Shift_Ins INS - - C TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:42857115_42857116insC ENST00000334370.4 + 19 3820_3821 c.3185_3186insC c.(3184-3186)gccfs p.A1062fs MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.A1129fs NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1129 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GTGTGCAGTGGCCCCCCGGACT 0.693 2 4 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 43125330 43125331 + RNA DEL TG TG - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:43125330_43125331delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 CGTATATATAtgtgtgtgtgtg 0.371 4 2 --- --- --- --- HSPBP1 23640 broad.mit.edu 37 19 55789106 55789107 + Frame_Shift_Ins INS - - G TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr19:55789106_55789107insG ENST00000255631.5 - 4 628_629 c.318_319insC c.(316-321)ccctgcfs p.C107fs HSPBP1_ENST00000587922.1_Frame_Shift_Ins_p.C107fs|HSPBP1_ENST00000433386.2_Frame_Shift_Ins_p.C107fs|HSPBP1_ENST00000376343.3_Frame_Shift_Ins_p.C107fs NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 110 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TCCCCAGCAGTGGGGGGCATGG 0.673 3 3 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21180957 21180957 + RNA DEL T T - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:21180957delT ENST00000591761.1 - 0 290 PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA tttaagacagtttttccatgg 0.418 2 4 --- --- --- --- LOC284788 284788 broad.mit.edu 37 20 22399160 22399160 + RNA DEL A A - rs76297419 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:22399160delA ENST00000377121.1 - 0 684 NR_027089.1 aagtgattggaaaaaaaaaaa 0.413 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29584947 29584947 + RNA DEL C C - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:29584947delC ENST00000432067.1 - 0 288 gtccctgagtcccttccaggg 0.448 3 5 --- --- --- --- LINC01271 101927586 broad.mit.edu 37 20 48936978 48936978 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr20:48936978delG ENST00000441214.1 - 0 268 gacagaacctggGGAGATGTA 0.473 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11071049 11071050 + RNA INS - - G rs3904107 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr21:11071049_11071050insG 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) ctctatattcagggaaaaaaag 0.361 5 11 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11087766 11087766 + RNA DEL T T - rs56721211 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr21:11087766delT 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) TAAGACTGTATTTTTTATGGA 0.368 3 6 --- --- --- --- CYYR1-AS1 100996571 broad.mit.edu 37 21 27792298 27792298 + RNA DEL G G - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr21:27792298delG ENST00000357401.3 + 0 186 AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000421771.1_RNA ccctagctgagggtctccata 0.522 2 4 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17126069 17126069 + RNA DEL A A - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr22:17126069delA ENST00000426585.1 + 0 442 actccatattaaaaaaaaaaa 0.408 2 4 --- --- --- --- PRAMENP 649179 broad.mit.edu 37 22 22379003 22379004 + RNA DEL TG TG - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr22:22379003_22379004delTG ENST00000337471.4 - 0 1316 gtgtgtgtgttgtgtgtgtgtg 0.366 3 6 --- --- --- --- AP000346.2 0 broad.mit.edu 37 22 23979019 23979020 + RNA DEL GA GA - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr22:23979019_23979020delGA ENST00000390329.2 - 0 313 AGTTggcagggagagagagaga 0.569 2 4 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48049309 48049311 + RNA DEL AAA AAA - rs35036132 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chr22:48049309_48049311delAAA ENST00000423737.1 + 0 387 gatccatctcaaaaaaaaaaaaa 0.458 2 4 --- --- --- --- GS1-600G8.5 0 broad.mit.edu 37 X 13297332 13297333 + RNA DEL TG TG - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chrX:13297332_13297333delTG ENST00000412485.1 - 0 209 tgtgtgtgtctgtgtgtgtgtg 0.460 2 4 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22792733 22792734 + RNA DEL AT AT - rs113530053 TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chrX:22792733_22792734delAT ENST00000455399.1 - 0 178 gtgcacacacatacacacacac 0.322 2 4 --- --- --- --- NCBP2L 392517 broad.mit.edu 37 X 107027089 107027090 + RNA DEL TG TG - TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 374b881a-dbe2-4b4b-bfc0-8431f1aec06c b2be574f-5847-43c1-8599-53202a8d1387 g.chrX:107027089_107027090delTG ENST00000509000.1 + 0 126 ggtgtgcgtatgtgtgtgtgtg 0.421 2 4 --- --- --- ---