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 SULF1 23213 broad.mit.edu 37 8 70488255 70488255 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:70488255G>T ENST00000260128.4 + 6 940 c.223G>T c.(223-225)Gcc>Tcc p.A75S SULF1_ENST00000402687.4_Missense_Mutation_p.A75S|SULF1_ENST00000419716.3_Missense_Mutation_p.A75S|SULF1_ENST00000458141.2_Missense_Mutation_p.A75S NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 75 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACATGGGGGGGCCACCTTCAT 0.502000 8 30 0.00621372 0.00676699 0.006214 1 0 CCDC33 80125 broad.mit.edu 37 15 74554835 74554835 + Silent SNP G G C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:74554835G>C ENST00000321288.5 + 5 849 c.849G>C c.(847-849)gtG>gtC p.V283V CCDC33_ENST00000398814.3_Silent_p.V80V Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 283 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCACATCTGTGACCTCAGAGC 0.577000 3 24 0 0 0.004672 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767551 77767551 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:77767551C>A ENST00000521891.2 + 10 8842 c.8394C>A c.(8392-8394)acC>acA p.T2798T ZFHX4_ENST00000050961.6_Silent_p.T2753T|ZFHX4_ENST00000518282.1_Silent_p.T2772T|ZFHX4_ENST00000455469.2_Silent_p.T2753T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2753 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAATAAAACCGATTTTGATG 0.443000 HNSCC(33;0.089) 10 59 2.17888e-05 2.74954e-05 0.006214 1 0 CST9 128822 broad.mit.edu 37 20 23584335 23584335 + Silent SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:23584335G>A ENST00000376971.3 - 2 303 c.292C>T c.(292-294)Ctg>Ttg p.L98L NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 98 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) GTTTGGCGCAGTTGCAGATTC 0.463000 16 88 0 0 0.007413 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160768 12160768 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:12160768G>A ENST00000263035.4 + 15 2485 c.2423G>A c.(2422-2424)tGc>tAc p.C808Y NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 808 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTCGTGTTCTGCTCCGGCAAA 0.478000 8 827 0 0 0.004482 0 0 CDHR2 54825 broad.mit.edu 37 5 176017474 176017474 + Silent SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:176017474G>A ENST00000510636.1 + 27 3676 c.3402G>A c.(3400-3402)ggG>ggA p.G1134G CDHR2_ENST00000261944.5_Silent_p.G1134G|CDHR2_ENST00000506348.1_Silent_p.G1134G NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1134 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TGCAGCTGGGGCTGGTGGTGC 0.637000 10 20 0 0 0.006214 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157197 26157197 + Missense_Mutation SNP T T A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chrX:26157197T>A ENST00000325250.1 + 2 282 c.95T>A c.(94-96)gTg>gAg p.V32E NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 32 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CAGGCCACTGTGGCAGAAGGA 0.557000 8 34 0 0 0.004482 0 0 POU2F1 5451 broad.mit.edu 37 1 167341161 167341161 + Missense_Mutation SNP C C T rs144698259 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:167341161C>T ENST00000367862.5 + 5 492 c.257C>T c.(256-258)tCt>tTt p.S86F POU2F1_ENST00000452019.1_Missense_Mutation_p.S74F|POU2F1_ENST00000541643.3_Missense_Mutation_p.S74F|POU2F1_ENST00000420254.3_Missense_Mutation_p.S74F|POU2F1_ENST00000429375.2_Missense_Mutation_p.S97F|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.S97F NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 74 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CAGTCTAAATCTAATGAAGAA 0.453000 19 188 0 0 0.007413 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22880659 22880659 + Nonsense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:22880659C>A ENST00000376573.4 - 4 619 c.391G>T c.(391-393)Gga>Tga p.G131* PIP4K2A_ENST00000545335.1_Nonsense_Mutation_p.G72*|PIP4K2A_ENST00000422321.1_5'UTR NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 131 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 AAACGAGCTCCACTGCGGGCC 0.532000 4 33 0.00024832 0.000290315 0.009096 1 0 NPY4R 5540 broad.mit.edu 37 10 47087599 47087599 + Silent SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:47087599G>A ENST00000374312.1 + 3 1235 c.816G>A c.(814-816)gtG>gtA p.V272V NPY4R_ENST00000395716.1_Silent_p.V272V NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TGATGGTGGTGGCCTTTGCTG 0.597000 5 142 0 0 0.021553 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855814 228855814 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:228855814C>A ENST00000392056.3 - 11 4907 c.4861G>T c.(4861-4863)Gat>Tat p.D1621Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1592Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1621 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGCTCGGCATCTGGACACTCT 0.542000 8 33 0.000157383 0.000185363 0.003080 1 0 MOCS3 27304 broad.mit.edu 37 20 49575867 49575867 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:49575867C>T ENST00000244051.1 + 1 505 c.488C>T c.(487-489)cCa>cTa p.P163L NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 163 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 GCCCTTACGCCAGCCACTGCC 0.642000 4 47 0 0 0.009096 0 0 STK19 8859 broad.mit.edu 37 6 31948502 31948502 + Missense_Mutation SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:31948502C>G ENST00000375331.2 + 7 1139 c.973C>G c.(973-975)Cgg>Ggg p.R325G STK19_ENST00000375333.2_Missense_Mutation_p.R329G NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 329 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCTCCTGGGCCGGCGGGCGCC 0.632000 4 45 0 0 0.001984 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011172 23011172 + RNA SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr22:23011172C>T ENST00000390304.2 + 0 273 GATCCCTGAGCGATTCTCCGG 0.562000 3 24 0 0 0.004672 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473345 22473345 + RNA SNP G G C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:22473345G>C ENST00000557788.2 - 0 8 AGAACCACAGGTGTTTCATGT 0.512000 3 37 0 0 0.004672 0 0 SP140 11262 broad.mit.edu 37 2 231090581 231090581 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:231090581G>T ENST00000392045.3 + 1 136 c.22G>T c.(22-24)Ggg>Tgg p.G8W SP140_ENST00000486687.2_Missense_Mutation_p.G8W|SP140_ENST00000343805.6_Missense_Mutation_p.G8W|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.G8W|SP140_ENST00000417495.3_Missense_Mutation_p.G8W|SP140_ENST00000420434.3_Missense_Mutation_p.G8W NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 8 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGGCCAGCAGGGGCAGATGGC 0.552000 19 70 3.51602e-12 5.37545e-12 0.008871 1 0 CEACAM7 1087 broad.mit.edu 37 19 42190824 42190824 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:42190824C>A ENST00000006724.3 - 2 594 c.393G>T c.(391-393)gtG>gtT p.V131V CEACAM7_ENST00000401731.1_Silent_p.V131V|CEACAM7_ENST00000602225.1_Silent_p.V131V|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Silent_p.V131V NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 131 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CTTCTTCATTCACAAGATTTT 0.458000 17 87 1.33834e-09 1.91708e-09 0.007413 1 0 ZNF835 90485 broad.mit.edu 37 19 57175469 57175469 + Silent SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:57175469G>A ENST00000537055.2 - 2 1329 c.1098C>T c.(1096-1098)gaC>gaT p.D366D NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GCTTGCCGCAGTCGTGGCAGG 0.697000 3 23 0 0 0.009096 0 0 OR51G1 79324 broad.mit.edu 37 11 4944831 4944831 + Missense_Mutation SNP T T C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:4944831T>C ENST00000321961.2 - 1 806 c.739A>G c.(739-741)Atc>Gtc p.I247V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGCACAGATATGAGAGACA 0.537000 6 75 0 0 0.021553 0 0 C15orf52 388115 broad.mit.edu 37 15 40631027 40631027 + Silent SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:40631027C>T ENST00000559313.1 - 4 456 c.441G>A c.(439-441)gaG>gaA p.E147E NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 147 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CCTCAGCATCCTCATCCTCAA 0.582000 12 44 0 0 0.010729 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190826 42190826 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:42190826C>A ENST00000006724.3 - 2 592 c.391G>T c.(391-393)Gtg>Ttg p.V131L CEACAM7_ENST00000401731.1_Missense_Mutation_p.V131L|CEACAM7_ENST00000602225.1_Missense_Mutation_p.V131L|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.V131L NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 131 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TCTTCATTCACAAGATTTTCT 0.463000 18 86 1.01871e-10 1.48601e-10 0.008871 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 82 0 0 0.014758 0 0 CPXM2 119587 broad.mit.edu 37 10 125514203 125514203 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:125514203C>T ENST00000241305.3 - 13 2147 c.1993G>A c.(1993-1995)Ggc>Agc p.G665S CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 665 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TGGTTAATGCCTTCTACGGAG 0.428000 9 50 0 0 0.006214 0 0 ROR1 4919 broad.mit.edu 37 1 64644284 64644284 + Missense_Mutation SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:64644284C>G ENST00000371079.1 + 9 2935 c.2560C>G c.(2560-2562)Cgg>Ggg p.R854G ROR1_ENST00000545203.1_Missense_Mutation_p.R305G NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 854 Ser/Thr-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TCCCAAGAGTCGGTCCCCAAG 0.542000 5 46 0 0 0.014758 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320649 79320649 + Missense_Mutation SNP A A C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:79320649A>C ENST00000428286.1 - 8 6664 c.5464T>G c.(5464-5466)Tct>Gct p.S1822A PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2181A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2181 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCGGGCTGAGAGGAGCCCTTT 0.478000 12 56 0 0 0.010729 0 0 GABRB3 2562 broad.mit.edu 37 15 27184492 27184492 + Missense_Mutation SNP A A T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:27184492A>T ENST00000541819.2 - 1 194 c.92T>A c.(91-93)aTt>aAt p.I31N GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 0 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CGCCAATGAAATGCCCCCGAT 0.577000 11 74 0 0 0.028581 0 0 PLXNA4 91584 broad.mit.edu 37 7 131817896 131817896 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:131817896G>T ENST00000359827.3 - 31 6463 c.5501C>A c.(5500-5502)gCt>gAt p.A1834D PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1834D Q9HCM2 PLXA4_HUMAN plexin A4 1834 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGACTGCTCAGCCAGGTATGC 0.507000 4 95 0.000602214 0.000683943 0.014758 1 0 MUC16 94025 broad.mit.edu 37 19 8996373 8996373 + Silent SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:8996373A>G ENST00000397910.4 - 61 41402 c.41199T>C c.(41197-41199)aaT>aaC p.N13733N MUC16_ENST00000380951.5_Silent_p.N374N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13735 SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCAGTGATATTGTGGGTCA 0.557000 6 353 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 141027872 141027872 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:141027872C>A ENST00000389484.3 - 86 14157 c.13186G>T c.(13186-13188)Ggc>Tgc p.G4396C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4396 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAACAGTAGCCATCACATAAC 0.403000 TSP Lung(27;0.18) 12 56 6.40141e-05 7.82942e-05 0.010729 1 0 FLG 2312 broad.mit.edu 37 1 152283735 152283735 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:152283735C>A ENST00000368799.1 - 3 3662 c.3627G>T c.(3625-3627)ggG>ggT p.G1209G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1209 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCCTGACTGCCCATGGGAGG 0.557000 Ichthyosis 34 196 1.57019e-19 2.49661e-19 0.007835 1 0 PIK3C2A 5286 broad.mit.edu 37 11 17169144 17169144 + Missense_Mutation SNP G G C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:17169144G>C ENST00000265970.7 - 5 1479 c.1480C>G c.(1480-1482)Caa>Gaa p.Q494E PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q114E NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 494 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CGACAGTTTTGAATATGCTCA 0.333000 3 23 0 0 0.004672 0 0 OPA3 80207 broad.mit.edu 37 19 46056784 46056784 + Silent SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:46056784C>T ENST00000263275.4 - 2 582 c.528G>A c.(526-528)gcG>gcA p.A176A OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Silent_p.A123A NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 176 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) ATTTCTTGGACGCAGGCACTG 0.637000 12 45 0 0 0.010729 0 0 DDOST 1650 broad.mit.edu 37 1 20981967 20981967 + Missense_Mutation SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:20981967A>G ENST00000375048.3 - 5 673 c.568T>C c.(568-570)Tca>Cca p.S190P DDOST_ENST00000415136.2_Missense_Mutation_p.S153P|DDOST_ENST00000602624.2_Missense_Mutation_p.S173P NM_005216.4 NP_005207.2 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 190 innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTTAGAGATGATTTCCCAACG 0.507000 7 55 0 0 0.003080 0 0 KCND3 3752 broad.mit.edu 37 1 112525025 112525025 + Silent SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:112525025G>A ENST00000369697.1 - 1 393 c.324C>T c.(322-324)taC>taT p.Y108Y KCND3_ENST00000302127.4_Silent_p.Y108Y|KCND3_ENST00000315987.2_Silent_p.Y108Y Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 108 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGATGCACTCGTAGCGCGGGT 0.612000 17 68 0 0 0.006122 0 0 CD3D 915 broad.mit.edu 37 11 118210558 118210558 + Missense_Mutation SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:118210558A>G ENST00000300692.4 - 3 474 c.338T>C c.(337-339)aTt>aCt p.I113T CD3D_ENST00000529594.1_Missense_Mutation_p.I40T|CD3D_ENST00000392884.2_Intron NM_000732.4 NP_000723.1 P04234 CD3D_HUMAN CD3d molecule, delta (CD3-TCR complex) 113 positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CAGAGTGGCAATGACATCAGT 0.557000 3 36 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179578798 179578798 + Missense_Mutation SNP A A T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:179578798A>T ENST00000589042.1 - 92 26811 c.26587T>A c.(26587-26589)Tgg>Agg p.W8863R TTN_ENST00000591111.1_Missense_Mutation_p.W8546R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W7619R|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8546 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTTAAACCACTTAGTACTG 0.418000 12 55 0 0 0.013537 0 0 HSPG2 3339 broad.mit.edu 37 1 22213794 22213794 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:22213794G>A ENST00000374695.3 - 9 1071 c.992C>T c.(991-993)cCc>cTc p.P331L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 331 LDL-receptor class A 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ATTCCCGCAGGGGAACTCGTT 0.647000 3 25 0 0 0.004672 0 0 IL27 246778 broad.mit.edu 37 16 28515315 28515315 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:28515315G>A ENST00000356897.1 - 2 110 c.88C>T c.(88-90)Cca>Tca p.P30S NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 30 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 GGGGGCCTTGGGAATCCCCAG 0.632000 7 31 0 0 0.001984 0 0 CYP2E1 1571 broad.mit.edu 37 10 135346288 135346288 + Silent SNP T T C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:135346288T>C ENST00000463117.2 + 7 1013 c.741T>C c.(739-741)tcT>tcC p.S247S CYP2E1_ENST00000252945.3_Silent_p.S247S|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 247 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) AGTATGTGTCTGAAAGGGTGA 0.493000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 9 35 0 0 0.004482 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21325613 21325613 + Missense_Mutation SNP T T A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:21325613T>A ENST00000256958.2 + 3 210 c.114T>A c.(112-114)ttT>ttA p.F38L NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 38 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CACTCAGCTTTATTGCTAAGA 0.368000 23 65 0 0 0.018920 0 0 ROBO2 6092 broad.mit.edu 37 3 77626672 77626672 + Silent SNP A A C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:77626672A>C ENST00000461745.1 + 15 3135 c.2235A>C c.(2233-2235)gtA>gtC p.V745V ROBO2_ENST00000332191.8_Silent_p.V745V|ROBO2_ENST00000487694.3_Silent_p.V761V NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 745 Fibronectin type-III 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTGTCACTGTACTGACAGTTG 0.438000 23 46 0 0 0.018920 0 0 TPD52L3 89882 broad.mit.edu 37 9 6328730 6328730 + Silent SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:6328730C>G ENST00000344545.5 + 1 382 c.135C>G c.(133-135)acC>acG p.T45T TPD52L3_ENST00000381428.1_Silent_p.T45T|TPD52L3_ENST00000314556.3_Silent_p.T45T NM_033516.5 NP_277051.3 Q96J77 TPD55_HUMAN tumor protein D52-like 3 45 protein binding large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) AAATTGTAACCCTACGCCACG 0.502000 21 53 0 0 0.010504 0 0 GOLGA3 2802 broad.mit.edu 37 12 133358913 133358913 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:133358913C>A ENST00000204726.3 - 17 3992 c.3434G>T c.(3433-3435)aGg>aTg p.R1145M GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1145M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1145M NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1145 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTCTGCCTCCCTCTTGGCCAA 0.542000 24 116 4.4004e-07 6.03159e-07 0.018920 1 0 MRVI1 10335 broad.mit.edu 37 11 10648125 10648125 + Silent SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:10648125G>T ENST00000547195.1 - 8 983 c.483C>A c.(481-483)gtC>gtA p.V161V MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000527509.2_Silent_p.V161V|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000436272.1_Silent_p.V225V|MRVI1_ENST00000423302.2_Silent_p.V252V|MRVI1_ENST00000531107.1_Silent_p.V244V|MRVI1_ENST00000421747.1_Silent_p.V243V|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000552103.1_Silent_p.V161V NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 225 Interaction with PRKG1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GCCCTTTGGGGACGTTCTGAA 0.567000 4 36 2.56e-06 3.4205e-06 0.009096 1 0 ABCB4 5244 broad.mit.edu 37 7 87081014 87081014 + Silent SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:87081014G>T ENST00000265723.4 - 7 744 c.633C>A c.(631-633)atC>atA p.I211I ABCB4_ENST00000545634.1_Silent_p.I211I|ABCB4_ENST00000453593.1_Silent_p.I211I|ABCB4_ENST00000358400.3_Silent_p.I211I|ABCB4_ENST00000359206.3_Silent_p.I211I NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 211 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCCATCCTCTGATGAATCCCA 0.448000 19 71 5.03518e-11 7.48219e-11 0.007413 1 0 NRG3 10718 broad.mit.edu 37 10 84718766 84718766 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:84718766C>T ENST00000372142.2 + 7 830 c.556C>T c.(556-558)Ctc>Ttc p.L186F NRG3_ENST00000537893.1_Missense_Mutation_p.L57F|NRG3_ENST00000404547.1_Missense_Mutation_p.L407F|NRG3_ENST00000404576.2_Missense_Mutation_p.L211F|NRG3_ENST00000545131.1_Missense_Mutation_p.L57F|NRG3_ENST00000372141.2_Missense_Mutation_p.L407F|NRG3_ENST00000556918.1_Missense_Mutation_p.L237F NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 407 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AAGCTACAGTCTCAAAGCATC 0.428000 18 75 0 0 0.004990 0 0 TRIM58 25893 broad.mit.edu 37 1 248039392 248039392 + Missense_Mutation SNP A A T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:248039392A>T ENST00000366481.3 + 6 1110 c.1062A>T c.(1060-1062)gaA>gaT p.E354D OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 354 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGTGGGAGAAGGAGCAGAGT 0.567000 22 131 0 0 0.014323 0 0 LINC01410 103352539 broad.mit.edu 37 9 66458198 66458198 + RNA SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:66458198C>G ENST00000424345.1 + 0 67 RNA5SP283_ENST00000365604.1_RNA taaccagtcccgaccctgctt 0.622000 6 34 0 0 0.001984 0 0 C11orf53 341032 broad.mit.edu 37 11 111154946 111154946 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:111154946C>A ENST00000280325.4 + 3 300 c.153C>A c.(151-153)agC>agA p.S51R NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 51 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CAGGGCAGAGCCATGCGGCTC 0.612000 27 119 1.26454e-06 1.70392e-06 0.027356 1 0 S100A7L2 645922 broad.mit.edu 37 1 153410770 153410770 + Silent SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:153410770G>A ENST00000368725.2 - 2 68 c.69C>T c.(67-69)gaC>gaT p.D23D NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCGCGACTATGTCCAACATGA 0.423000 15 76 0 0 0.028581 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319507 21319507 + Silent SNP C C A rs143946927 byFrequency TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:21319507C>A ENST00000583088.1 + 3 1748 c.853C>A c.(853-855)Cgg>Agg p.R285R KCNJ12_ENST00000331718.5_Silent_p.R285R NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CGGCATCAGCCGGCAGGACCT 0.622000 Prostate(3;0.18) 4 37 1.23904e-05 1.57606e-05 0.014758 1 0 ARMC3 219681 broad.mit.edu 37 10 23257339 23257339 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:23257339C>A ENST00000298032.5 + 8 921 c.837C>A c.(835-837)ctC>ctA p.L279L ARMC3_ENST00000376528.4_Silent_p.L16L|ARMC3_ENST00000409983.3_Silent_p.L279L|ARMC3_ENST00000409049.3_Silent_p.L279L NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 279 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTAAAAAGCTCCTGTCATTTG 0.383000 6 37 3.59834e-05 4.505e-05 0.021553 1 0 FNDC9 408263 broad.mit.edu 37 5 156769987 156769987 + Silent SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:156769987C>T ENST00000312349.4 - 2 745 c.558G>A c.(556-558)aaG>aaA p.K186K CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 186 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CTCTGGAGTTCTTGCGTGGCA 0.622000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 150 0 0 0.008871 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95513820 95513820 + RNA SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:95513820C>T ENST00000432432.2 - 0 791 NR_040113.1 ATGTCTTGAGCGAAGACATCA 0.358000 9 279 0 0 0.013537 0 0 ZNF470 388566 broad.mit.edu 37 19 57089313 57089313 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:57089313G>A ENST00000330619.8 + 6 2202 c.1516G>A c.(1516-1518)Gag>Aag p.E506K ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.E506K NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TCATACTGGAGAGAAACCTTA 0.443000 18 56 0 0 0.004990 0 0 HOXA2 3199 broad.mit.edu 37 7 27140509 27140509 + Missense_Mutation SNP G G T rs138940688 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:27140509G>T ENST00000222718.5 - 2 1277 c.967C>A c.(967-969)Cag>Aag p.Q323K NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 323 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 CTAAAGTCCTGCAAAGAGGGG 0.527000 28 66 8.24728e-16 1.29833e-15 0.024334 1 0 KCNB2 9312 broad.mit.edu 37 8 73480054 73480054 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:73480054C>T ENST00000523207.1 + 2 673 c.85C>T c.(85-87)Cgg>Tgg p.R29W NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 29 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.R29W(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGACATTATCCGGAGCAAAAC 0.552000 6 290 0 0 0.021553 0 0 DTX2 113878 broad.mit.edu 37 7 76112337 76112337 + Silent SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:76112337C>T ENST00000324432.5 + 5 1291 c.781C>T c.(781-783)Ctg>Ttg p.L261L DTX2_ENST00000446820.2_Silent_p.L261L|DTX2_ENST00000446600.1_Silent_p.L170L|DTX2_ENST00000307569.8_Silent_p.L261L|DTX2_ENST00000430490.2_Silent_p.L261L|DTX2_ENST00000413936.2_Silent_p.L261L NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 261 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 TGCGCCCAGGCTGAACACCAC 0.687000 8 89 0 0 0.003080 0 0 XIRP2 129446 broad.mit.edu 37 2 168100767 168100767 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:168100767C>A ENST00000409195.1 + 9 2954 c.2865C>A c.(2863-2865)aaC>aaA p.N955K XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N955K|XIRP2_ENST00000409273.1_Missense_Mutation_p.N733K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 780 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTGAATCAAACAATTTAATTA 0.338000 12 51 7.03913e-09 9.90461e-09 0.013537 1 0 CHRM2 1129 broad.mit.edu 37 7 136700551 136700551 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:136700551C>A ENST00000445907.2 + 3 1467 c.939C>A c.(937-939)ggC>ggA p.G313G AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.G313G|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.G313G|CHRM2_ENST00000320658.5_Silent_p.G313G|CHRM2_ENST00000401861.1_Silent_p.G313G|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.G313G|AC009264.1_ENST00000598184.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 313 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTTCCCTGGGCCATTCCAAAG 0.463000 31 130 1.06801e-11 1.61728e-11 0.009535 1 0 LRP1B 53353 broad.mit.edu 37 2 141027873 141027873 + Missense_Mutation SNP A A T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:141027873A>T ENST00000389484.3 - 86 14156 c.13185T>A c.(13183-13185)gaT>gaA p.D4395E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4395 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AACAGTAGCCATCACATAACT 0.398000 TSP Lung(27;0.18) 12 56 0 0 0.010729 0 0 OBSCN 84033 broad.mit.edu 37 1 228466462 228466462 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:228466462G>T ENST00000570156.2 + 31 8293 c.8219G>T c.(8218-8220)tGt>tTt p.C2740F OBSCN_ENST00000359599.6_Missense_Mutation_p.C1158F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.C2311F|OBSCN_ENST00000422127.1_Missense_Mutation_p.C2311F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1741 Ig-like 27. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGCTGGAGTGTCAGGTGTCC 0.672000 4 14 0.00909568 0.00977171 0.009096 1 0 ERP27 121506 broad.mit.edu 37 12 15073937 15073937 + Missense_Mutation SNP T T C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:15073937T>C ENST00000266397.2 - 4 952 c.379A>G c.(379-381)Att>Gtt p.I127V ERP27_ENST00000540097.1_Missense_Mutation_p.I26V NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 127 Thioredoxin. endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 GTGGCATCAATGCTTTCAATG 0.388000 25 85 0 0 0.027356 0 0 HYAL4 23553 broad.mit.edu 37 7 123517127 123517127 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:123517127G>T ENST00000223026.4 + 5 2002 c.1364G>T c.(1363-1365)tGc>tTc p.C455F HYAL4_ENST00000476325.1_Missense_Mutation_p.C455F NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 455 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 GCTGATGGCTGCTCTGGGGTT 0.428000 7 78 0.00198382 0.00220578 0.001984 1 0 LBR 3930 broad.mit.edu 37 1 225594529 225594529 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:225594529C>A ENST00000338179.2 - 11 1445 c.1320G>T c.(1318-1320)gcG>gcT p.A440A LBR_ENST00000272163.4_Silent_p.A440A NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 440 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TCGTCAACAACGCTTCCTATA 0.413000 12 51 4.36969e-10 6.31619e-10 0.016723 1 0 SOBP 55084 broad.mit.edu 37 6 107955722 107955722 + Silent SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:107955722C>T ENST00000317357.5 + 6 2333 c.1674C>T c.(1672-1674)aaC>aaT p.N558N NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 558 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TCTCCAGCAACGGGGAGAACT 0.682000 3 8 0 0 0.004672 0 0 LRIG2 9860 broad.mit.edu 37 1 113658959 113658959 + Missense_Mutation SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:113658959A>G ENST00000361127.4 + 16 2779 c.2581A>G c.(2581-2583)Acg>Gcg p.T861A LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 861 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TTCCCAAGGAACGCTGTCTGA 0.488000 5 22 0 0 0.021553 0 0 DIP2C 22982 broad.mit.edu 37 10 468956 468956 + Nonsense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:468956C>A ENST00000280886.6 - 5 499 c.412G>T c.(412-414)Gaa>Taa p.E138* DIP2C_ENST00000381496.3_Nonsense_Mutation_p.E31* NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 138 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CCTTCATCTTCTGAGCCAGAA 0.537000 5 64 1.23904e-05 1.57606e-05 0.014758 1 0 PCDH9 5101 broad.mit.edu 37 13 66878809 66878809 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr13:66878809C>T ENST00000544246.1 - 5 4383 c.3692G>A c.(3691-3693)aGt>aAt p.S1231N PCDH9_ENST00000377865.2_Missense_Mutation_p.S1231N|PCDH9_ENST00000456367.1_Missense_Mutation_p.S1197N|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.S1197N NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1231 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTCCTTAGGACTCTCAGTAGC 0.423000 4 88 0 0 0.014758 0 0 ZNF287 57336 broad.mit.edu 37 17 16456596 16456596 + Missense_Mutation SNP A A C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:16456596A>C ENST00000395824.1 - 6 1477 c.860T>G c.(859-861)aTt>aGt p.I287S ZNF287_ENST00000395825.3_Missense_Mutation_p.I287S Q9HBT7 ZN287_HUMAN zinc finger protein 287 280 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) ATCAGTGTGAATTTTCCAGAA 0.348000 16 85 0 0 0.004990 0 0 BLZF1 8548 broad.mit.edu 37 1 169338766 169338766 + Silent SNP T T C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:169338766T>C ENST00000367808.3 + 2 429 c.6T>C c.(4-6)acT>acC p.T2T BLZF1_ENST00000367807.3_Silent_p.T2T|BLZF1_ENST00000329281.2_Silent_p.T2T Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 2 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) AAAAAATGACTACTAAAAATT 0.294000 20 38 0 0 0.008871 0 0 TATDN1 83940 broad.mit.edu 37 8 125551265 125551265 + Splice_Site SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:125551265C>A ENST00000276692.6 - 1 60 c.e1+1 TATDN1_ENST00000519548.1_Splice_Site|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000605953.1_Splice_Site NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GCTCCTCTTACCGATAAACTT 0.622000 4 67 5.9392e-07 8.07122e-07 0.021553 1 0 TTN 7273 broad.mit.edu 37 2 179458092 179458092 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:179458092G>T ENST00000589042.1 - 299 59067 c.58843C>A c.(58843-58845)Ctg>Atg p.L19615M TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L17974M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10550M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L10675M|TTN_ENST00000342992.6_Missense_Mutation_p.L17047M|TTN_ENST00000342175.6_Missense_Mutation_p.L10742M|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17974 Ig-like 109. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTTTTCCAGGATGTAGTTT 0.403000 5 90 1.23904e-05 1.57606e-05 0.014758 1 0 EGR1 1958 broad.mit.edu 37 5 137802964 137802964 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:137802964G>A ENST00000239938.4 + 2 1098 c.826G>A c.(826-828)Ggc>Agc p.G276S NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 276 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCCTTCCAGGGCCTGGAGAG 0.622000 7 46 0 0 0.001984 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142120044 142120044 + RNA SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:142120044C>G ENST00000390377.1 - 0 122 TTGGATCACACCTGAGAGTTA 0.488000 5 84 0 0 0.001984 0 0 DDI1 414301 broad.mit.edu 37 11 103908003 103908003 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:103908003C>A ENST00000302259.3 + 1 696 c.453C>A c.(451-453)ctC>ctA p.L151L PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 151 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GCATGCTGCTCTCCAACCCCC 0.652000 9 60 0.000274275 0.000318319 0.004482 1 0 KANSL1 284058 broad.mit.edu 37 17 44109534 44109534 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:44109534C>A ENST00000262419.6 - 14 3439 c.2969G>T c.(2968-2970)aGg>aTg p.R990M KANSL1_ENST00000572904.1_Missense_Mutation_p.R990M|KANSL1_ENST00000432791.1_Missense_Mutation_p.R990M|KANSL1_ENST00000575318.1_Missense_Mutation_p.R926M|KANSL1_ENST00000574590.1_Missense_Mutation_p.R990M|KANSL1_ENST00000393476.3_Missense_Mutation_p.R284M NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 990 MLL1 complex protein binding AATGGGGCTCCTAGGGGACTG 0.622000 13 56 2.61681e-11 3.92522e-11 0.020292 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140739886 140739886 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:140739886C>T ENST00000522605.1 + 1 184 c.184C>T c.(184-186)Cca>Tca p.P62S PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.P62S(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGACTTGCCAGCCCGGAA 0.537000 4 94 0 0 0.009096 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474884 140474884 + Missense_Mutation SNP A A C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:140474884A>C ENST00000194155.4 + 1 658 c.510A>C c.(508-510)caA>caC p.Q170H NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 170 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGTCTCCAAAATTACACAA 0.398000 8 39 0 0 0.006214 0 0 HMCN1 83872 broad.mit.edu 37 1 185976334 185976334 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:185976334G>T ENST00000271588.4 + 30 4779 c.4550G>T c.(4549-4551)aGa>aTa p.R1517I HMCN1_ENST00000367492.2_Missense_Mutation_p.R1517I NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1517 Ig-like C2-type 12. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATGCACGGAGAAATGACAAG 0.378000 8 64 1.12685e-05 1.4686e-05 0.004482 1 0 MXRA5 25878 broad.mit.edu 37 X 3228090 3228090 + Silent SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chrX:3228090G>T ENST00000217939.6 - 7 8308 c.8154C>A c.(8152-8154)ggC>ggA p.G2718G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2718 Ig-like C2-type 11. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGACCGAAGGGCCGTACTCCG 0.612000 8 28 0.000157383 0.000185363 0.003080 1 0 GRIK4 2900 broad.mit.edu 37 11 120673557 120673557 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:120673557G>T ENST00000527524.2 + 4 525 c.238G>T c.(238-240)Gca>Tca p.A80S GRIK4_ENST00000438375.2_Missense_Mutation_p.A80S Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 80 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GTACGAGACTGCAGAAACCAG 0.582000 OREG0021427 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 79 8.12818e-05 9.86551e-05 0.001984 1 0 BSN 8927 broad.mit.edu 37 3 49689125 49689125 + Silent SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:49689125G>T ENST00000296452.4 + 5 2250 c.2136G>T c.(2134-2136)ggG>ggT p.G712G NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 712 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACAGTGCAGGGGTGACAGGGC 0.632000 15 36 0.000308642 0.000355609 0.024245 1 0 RASD2 23551 broad.mit.edu 37 22 35947786 35947786 + Nonsense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr22:35947786G>T ENST00000216127.4 + 3 1150 c.508G>T c.(508-510)Gag>Tag p.E170* NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 170 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGCCTACTTCGAGGTGTCGGC 0.622000 10 24 0.00829132 0.00896816 0.008291 1 0 MT-ND4 4538 broad.mit.edu 37 MT 11211 11211 + Missense_Mutation SNP T T C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chrM:11211T>C ENST00000361381.2 + 1 452 c.452T>C c.(451-453)tTc>tCc p.151_151insS mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ATACTTCCTATTCTACACCCT 0.478000 4 278 0 0 0.021553 0 0 RGS6 9628 broad.mit.edu 37 14 72932467 72932467 + Splice_Site SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:72932467C>A ENST00000553530.1 + 7 603 c.394_splice c.e7-1 p.A132_splice RGS6_ENST00000407322.4_Splice_Site_p.A132_splice|RGS6_ENST00000554782.1_5'UTR|RGS6_ENST00000343854.6_Splice_Site_p.A132_splice|RGS6_ENST00000402788.2_Splice_Site_p.A132_splice|RGS6_ENST00000434263.2_Splice_Site_p.A63_splice|RGS6_ENST00000355512.6_Splice_Site_p.A132_splice|RGS6_ENST00000404301.2_Splice_Site_p.A132_splice|RGS6_ENST00000555571.1_Splice_Site_p.A132_splice|RGS6_ENST00000556437.1_Splice_Site_p.A132_splice|RGS6_ENST00000406236.4_Splice_Site_p.A132_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000553525.1_Splice_Site_p.A132_splice NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 132 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTCCCTCAGCCATCTATCTCT 0.403000 11 80 6.40141e-05 7.82942e-05 0.010729 1 0 ANKRD26 22852 broad.mit.edu 37 10 27322179 27322179 + Missense_Mutation SNP T T A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:27322179T>A ENST00000376087.4 - 25 3947 c.3782A>T c.(3781-3783)aAg>aTg p.K1261M ANKRD26_ENST00000376070.3_Missense_Mutation_p.K818M|ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1277M NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1260 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 ACCTAATTTCTTCTTTAAATC 0.299000 4 52 0 0 0.009096 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118236232 118236232 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:118236232C>A ENST00000369230.3 + 11 1387 c.1241C>A c.(1240-1242)aCa>aAa p.T414K NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 414 PLAT. lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) GGAAACATTACAAGTGTTCAG 0.343000 25 109 1.17739e-12 1.81753e-12 0.027356 1 0 ITGB1 3688 broad.mit.edu 37 10 33190513 33190513 + Missense_Mutation SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:33190513C>G ENST00000396033.2 - 16 2517 c.2382G>C c.(2380-2382)aaG>aaC p.K794N ITGB1_ENST00000423113.1_3'UTR|ITGB1_ENST00000374956.4_3'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.K794N NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 794 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTCCCTCATACTTCGGATTGA 0.378000 11 67 0 0 0.010729 0 0 RECK 8434 broad.mit.edu 37 9 36087705 36087705 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:36087705G>A ENST00000377966.3 + 9 1218 c.652G>A c.(652-654)Gac>Aac p.D218N NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 218 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATATTGCTGTGACAGAGCTGA 0.373000 8 71 0 0 0.003080 0 0 SRRT 51593 broad.mit.edu 37 7 100479340 100479340 + Silent SNP T T G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:100479340T>G ENST00000388793.4 + 4 532 c.312T>G c.(310-312)ggT>ggG p.G104G SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000347433.4_Silent_p.G104G NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 104 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104G(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CTGGGGGGGGTGGGGGCCCAA 0.607000 6 50 0 0 0.013537 0 0 SYT13 57586 broad.mit.edu 37 11 45265822 45265822 + Silent SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:45265822G>T ENST00000020926.3 - 6 1173 c.1062C>A c.(1060-1062)ccC>ccA p.P354P NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 354 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CGTTCCACACGGGGTTGATCT 0.562000 6 39 0.00198382 0.00220578 0.001984 1 0 CLPS 1208 broad.mit.edu 37 6 35763532 35763532 + Silent SNP G G A rs144552522 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:35763532G>A ENST00000259938.2 - 2 205 c.183C>T c.(181-183)agC>agT p.S61S NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 61 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 CGCTGTTCTCGCTGGCCATGG 0.597000 7 93 0 0 0.001984 0 0 ZNF687 57592 broad.mit.edu 37 1 151260766 151260766 + Missense_Mutation SNP A A T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:151260766A>T ENST00000368879.2 + 2 2097 c.1999A>T c.(1999-2001)Acc>Tcc p.T667S NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCCCCGGCCACCTCTGCTTA 0.657000 6 19 0 0 0.008291 0 0 HGSNAT 138050 broad.mit.edu 37 8 43033258 43033258 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:43033258C>T ENST00000458501.2 + 10 977 c.977C>T c.(976-978)aCt>aTt p.T326I HGSNAT_ENST00000379644.4_Missense_Mutation_p.T298I Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 326 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CTATCGATGACTTCTATACTG 0.353000 15 85 0 0 0.024245 0 0 LINC01410 103352539 broad.mit.edu 37 9 66466226 66466226 + RNA SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:66466226A>G ENST00000424345.1 + 0 859 cctagcggagagagagccgga 0.453000 3 28 0 0 0.009096 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42866376 42866376 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr21:42866376C>T ENST00000398585.3 - 3 316 c.256G>A c.(256-258)Gtg>Atg p.V86M TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V49M|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.V49M NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 49 proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TACTGGGGCACGGGGGACGGG 0.617000 T """ERG, ETV1, ETV4, ETV5""" prostate 12 66 0 0 0.016723 0 0 USH2A 7399 broad.mit.edu 37 1 215914876 215914876 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:215914876C>A ENST00000366943.2 - 60 11938 c.11552G>T c.(11551-11553)aGt>aTt p.S3851I USH2A_ENST00000307340.3_Missense_Mutation_p.S3851I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3851 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AACTCCACAACTTCCTTGAAA 0.353000 HNSCC(13;0.011) 12 62 6.40141e-05 7.82942e-05 0.010729 1 0 LRP5 4041 broad.mit.edu 37 11 68115425 68115425 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:68115425G>T ENST00000294304.7 + 2 308 c.202G>T c.(202-204)Gtg>Ttg p.V68L NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 68 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCGGCCGCAGTGGACTTCCA 0.642000 9 44 0.000442599 0.000506283 0.006214 1 0 OAS2 4939 broad.mit.edu 37 12 113447043 113447043 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:113447043C>T ENST00000392583.2 + 10 2254 c.2047C>T c.(2047-2049)Ccg>Tcg p.P683S OAS2_ENST00000342315.4_Missense_Mutation_p.P683S|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 683 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TTGGAAAGTGCCGGTAAAAGT 0.458000 5 309 0 0 0.021553 0 0 TEX13A 56157 broad.mit.edu 37 X 104463663 104463663 + Missense_Mutation SNP G G C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chrX:104463663G>C ENST00000413579.1 - 5 1324 c.1213C>G c.(1213-1215)Ctg>Gtg p.L405V TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000344799.4_Intron Q9BXU3 TX13A_HUMAN testis expressed 13A 405 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GGTTTTTGCAGCCAGATTCCC 0.502000 6 213 0 0 0.004482 0 0 ALOXE3 59344 broad.mit.edu 37 17 8011889 8011889 + Silent SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:8011889C>A ENST00000380149.1 - 12 2079 c.2049G>T c.(2047-2049)gtG>gtT p.V683V ALOXE3_ENST00000318227.3_Silent_p.V659V|ALOXE3_ENST00000448843.2_Silent_p.V527V Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 527 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 AATAGTAGCCCACGATTTCTG 0.577000 12 92 0.00136819 0.00154286 0.013537 1 0 IRX2 153572 broad.mit.edu 37 5 2748735 2748735 + Missense_Mutation SNP T T G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:2748735T>G ENST00000382611.6 - 3 1335 c.1087A>C c.(1087-1089)Acc>Ccc p.T363P IRX2_ENST00000302057.5_Missense_Mutation_p.T363P NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 363 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GGTGCCCCGGTTGAggccggc 0.741000 4 6 0 0 0.009096 0 0 GOPC 57120 broad.mit.edu 37 6 117884489 117884489 + Silent SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:117884489A>G ENST00000535237.1 - 9 1546 c.1317T>C c.(1315-1317)agT>agC p.S439S GOPC_ENST00000467125.1_Intron|GOPC_ENST00000368498.2_Silent_p.S439S|DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000052569.6_Silent_p.S431S golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) GCGGAGTTTCACTTGCAGTGC 0.368000 O ROS1 glioblastoma 7 43 0 0 0.001984 0 0 FAT4 79633 broad.mit.edu 37 4 126411871 126411871 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:126411871G>T ENST00000394329.3 + 17 13907 c.13894G>T c.(13894-13896)Gat>Tat p.D4632Y FAT4_ENST00000335110.5_Missense_Mutation_p.D2873Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4632 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CGCCCCTTCGGATGCAGACAT 0.527000 19 61 2.94398e-08 4.07038e-08 0.007413 1 0 CEP164 22897 broad.mit.edu 37 11 117241905 117241905 + Missense_Mutation SNP G G A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:117241905G>A ENST00000278935.3 + 9 1022 c.875G>A c.(874-876)aGt>aAt p.S292N CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 292 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCAGACAGCAGTCTGAGCAGT 0.537000 6 116 0 0 0.021553 0 0 LPHN2 23266 broad.mit.edu 37 1 82452669 82452669 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:82452669C>T ENST00000370728.1 + 24 4226 c.3581C>T c.(3580-3582)aCa>aTa p.T1194I LPHN2_ENST00000370721.1_Missense_Mutation_p.T1119I|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1196I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1209I|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1209I|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1196I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370730.1_Intron O95490 LPHN2_HUMAN latrophilin 2 1194 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTCGCTGAAACAGTTGTATGT 0.398000 6 70 0 0 0.021553 0 0 MYH1 4619 broad.mit.edu 37 17 10403943 10403943 + Splice_Site SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:10403943C>T ENST00000226207.5 - 28 3959 c.3865_splice c.e28+1 p.G1289_splice CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1289 TESG -> QNQV (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CATGGCCCACCTGATTCTGTT 0.453000 15 56 0 0 0.004990 0 0 SYNE1 23345 broad.mit.edu 37 6 152792777 152792777 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:152792777C>A ENST00000367255.5 - 16 2188 c.1587G>T c.(1585-1587)aaG>aaT p.K529N SYNE1_ENST00000367253.4_Missense_Mutation_p.K529N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K536N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K519N|SYNE1_ENST00000466159.2_Missense_Mutation_p.K529N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K529N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K96N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K529N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K536N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K536N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 529 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCTCCCGTACTTAATGATCC 0.448000 HNSCC(10;0.0054) 24 128 5.35356e-11 7.88163e-11 0.016522 1 0 DCLK3 85443 broad.mit.edu 37 3 36779132 36779132 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:36779132C>T ENST00000416516.2 - 2 1509 c.1019G>A c.(1018-1020)cGg>cAg p.R340Q NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 340 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CCGTGGCTTCCGACCGCTGGG 0.567000 10 135 0 0 0.006214 0 0 GABRA5 2558 broad.mit.edu 37 15 27185073 27185073 + Splice_Site SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:27185073C>G ENST00000335625.5 + 9 1614 c.724_splice c.e9-1 p.G242_splice GABRA5_ENST00000355395.5_Splice_Site_p.G242_splice|GABRA5_ENST00000400081.3_Splice_Site_p.G242_splice NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 242 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATTTGCAGGCGAATACACAA 0.493000 8 62 0 0 0.004482 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72434397 72434397 + Silent SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:72434397G>T ENST00000373208.1 + 2 168 c.168G>T c.(166-168)gtG>gtT p.V56V ADAMTS14_ENST00000373207.1_Silent_p.V56V NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 56 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TCTCCCACGTGGTGTCTGGCC 0.612000 5 24 5.18039e-06 6.86402e-06 0.003080 1 0 COL22A1 169044 broad.mit.edu 37 8 139715564 139715564 + Silent SNP G G C rs147410805 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:139715564G>C ENST00000303045.6 - 31 2990 c.2544C>G c.(2542-2544)ccC>ccG p.P848P COL22A1_ENST00000435777.1_Silent_p.P848P|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 848 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGGTAACCCGGGAGGGCCTG 0.478000 HNSCC(7;0.00092) 6 49 0 0 0.001984 0 0 LOC344967 344967 broad.mit.edu 37 4 40045230 40045230 + RNA SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:40045230C>A ENST00000381811.2 - 0 919 NR_027277.1 TGACAGTGTTCGGCTCTGGGT 0.587000 8 30 5.4927e-09 7.79768e-09 0.004482 1 0 RPS6KL1 83694 broad.mit.edu 37 14 75386663 75386663 + Missense_Mutation SNP T T A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:75386663T>A ENST00000555647.1 - 4 562 c.275A>T c.(274-276)aAc>aTc p.N92I RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.N92I|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.N92I|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.N92I Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 92 MIT. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) TCGCTCCTTGTTGGGGTCAAC 0.607000 3 25 0 0 0.014758 0 0 WDFY3 23001 broad.mit.edu 37 4 85752722 85752722 + Nonsense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:85752722C>A ENST00000322366.6 - 8 1020 c.613G>T c.(613-615)Gag>Tag p.E205* WDFY3_ENST00000295888.4_Nonsense_Mutation_p.E205* Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 205 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCAGCTCCTCCGCAGGGGAA 0.388000 13 65 3.03607e-14 4.7327e-14 0.013537 1 0 SP3 6670 broad.mit.edu 37 2 174783494 174783494 + Missense_Mutation SNP T T A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:174783494T>A ENST00000310015.6 - 5 2189 c.1659A>T c.(1657-1659)gaA>gaT p.E553D SP3_ENST00000455789.2_Missense_Mutation_p.E500D|SP3_ENST00000418194.2_Missense_Mutation_p.E485D NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 553 Repressor domain. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) GATCAGGTTCTTCTTCCTTGA 0.413000 8 25 0 0 0.013537 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G A rs28934874 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:7578479G>A ENST00000420246.2 - 5 583 c.451C>T c.(451-453)Ccc>Tcc p.P151S TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGGCGGGGGTGTGGAATCA 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 68 0 0 0.028581 0 0 CHD7 55636 broad.mit.edu 37 8 61768603 61768603 + Missense_Mutation SNP A A G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:61768603A>G ENST00000423902.2 + 33 7485 c.7006A>G c.(7006-7008)Agg>Ggg p.R2336G CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2336 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCCAGTAAATAGGCGCCAGAT 0.473000 4 24 0 0 0.009096 0 0 ITIH5 80760 broad.mit.edu 37 10 7611732 7611732 + Missense_Mutation SNP T T A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:7611732T>A ENST00000256861.6 - 12 2126 c.2048A>T c.(2047-2049)cAc>cTc p.H683L ITIH5_ENST00000446830.2_Missense_Mutation_p.H465L|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.H469L NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 683 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CACAACAAAGTGGGGATCACC 0.498000 4 25 0 0 0.009096 0 0 ELAC1 55520 broad.mit.edu 37 18 48513137 48513137 + Silent SNP G G C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:48513137G>C ENST00000269466.3 + 4 881 c.774G>C c.(772-774)gtG>gtC p.V258V SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 258 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) CTGGGGTTGTGGGTGATGGAG 0.458000 6 28 0 0 0.021553 0 0 CDH10 1008 broad.mit.edu 37 5 24509847 24509847 + Missense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:24509847G>T ENST00000264463.4 - 7 1591 c.1084C>A c.(1084-1086)Cta>Ata p.L362I NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 362 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AATGGTCCTAGGTAATAAAAA 0.373000 HNSCC(23;0.051) 9 34 0.00448238 0.0049493 0.004482 1 0 FAM71C 196472 broad.mit.edu 37 12 100042223 100042223 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:100042223C>A ENST00000324341.1 + 1 693 c.271C>A c.(271-273)Cca>Aca p.P91T ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 91 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GCTGGCCCGACCAGCTGCTGT 0.552000 18 78 9.16793e-09 1.27868e-08 0.004990 1 0 NRG3 10718 broad.mit.edu 37 10 84738849 84738849 + Missense_Mutation SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:84738849C>G ENST00000372142.2 + 9 1167 c.893C>G c.(892-894)cCa>cGa p.P298R NRG3_ENST00000537893.1_Missense_Mutation_p.P169R|NRG3_ENST00000404547.1_Missense_Mutation_p.P519R|NRG3_ENST00000404576.2_Missense_Mutation_p.P323R|NRG3_ENST00000545131.1_Missense_Mutation_p.P169R|NRG3_ENST00000372141.2_Missense_Mutation_p.P519R|NRG3_ENST00000556918.1_Missense_Mutation_p.P349R NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 519 EGF-like. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TCAAGGATCCCAGACCAGGAT 0.468000 8 35 0 0 0.004482 0 0 DCDC1 341019 broad.mit.edu 37 11 31086601 31086601 + Missense_Mutation SNP C C G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:31086601C>G ENST00000597505.1 - 17 2397 c.2398G>C c.(2398-2400)Gct>Cct p.A800P DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TCCTGATGAGCTGTGGTCCAG 0.438000 3 53 0 0 0.004672 0 0 LGR6 59352 broad.mit.edu 37 1 202287934 202287934 + Missense_Mutation SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:202287934C>T ENST00000367278.3 + 18 2592 c.2503C>T c.(2503-2505)Cgg>Tgg p.R835W LGR6_ENST00000439764.2_Missense_Mutation_p.R696W|LGR6_ENST00000255432.7_Missense_Mutation_p.R783W NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 835 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CCCCCACTTCCGGGATGACCT 0.667000 3 61 0 0 0.004672 0 0 ITGA2 3673 broad.mit.edu 37 5 52386429 52386429 + Nonstop_Mutation SNP A A C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:52386429A>C ENST00000296585.5 + 30 3689 c.3546A>C c.(3544-3546)tgA>tgC p.*1182C NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 0 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TCAGTAGCTGAACCAGCAGAC 0.413000 16 49 0 0 0.028581 0 0 SLC19A3 80704 broad.mit.edu 37 2 228560708 228560708 + Missense_Mutation SNP C C A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:228560708C>A ENST00000258403.3 - 4 1140 c.1069G>T c.(1069-1071)Gcc>Tcc p.A357S SLC19A3_ENST00000541617.1_Missense_Mutation_p.A353S|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 357 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AAAGAACCGGCATTGACAACT 0.458000 7 39 0.000157383 0.000185363 0.003080 1 0 CROCCP2 84809 broad.mit.edu 37 1 16947282 16947282 + RNA DEL C C - rs60920244 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:16947282delC ENST00000412962.1 - 0 1000 CAGCAGTTGTCCCTAGCAACT 0.577 3 6 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68326423 68326423 + RNA DEL T T - rs79522534 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:68326423delT ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN AAGATTATTATTTTTTTTAAA 0.328 3 3 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84094631 84094632 + RNA INS - - A rs66533353 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:84094631_84094632insA ENST00000417975.1 - 0 280 GCTTGTTAGTTAAAAAAAAATA 0.411 2 4 --- --- --- --- LOC101928241 101928241 broad.mit.edu 37 1 96818060 96818061 + RNA INS - - T rs67727219 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:96818060_96818061insT ENST00000435311.1 - 0 165 catttgctgtgttttttttccc 0.371 2 4 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102840446 102840453 + RNA DEL AAGGAAAA AAGGAAAA - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:102840446_102840453delAAGGAAAA ENST00000447916.1 - 0 339 aaaaggaaggaaggaaaaaaggaaaaat 0.370 5 6 --- --- --- --- RP5-936J12.1 0 broad.mit.edu 37 1 103282329 103282329 + RNA DEL A A - rs76720768 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:103282329delA ENST00000414418.1 - 0 251 ctgtccttataaaaaaaaaaa 0.373 2 4 --- --- --- --- AL592494.5 0 broad.mit.edu 37 1 121163387 121163390 + RNA DEL AGAA AGAA - rs57644494 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:121163387_121163390delAGAA ENST00000417218.1 + 0 551 RP11-343N15.2_ENST00000445260.2_lincRNA acgtgctgagagaaagagcagata 0.343 3 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142649174 142649174 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:142649174delT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA tctctctctcttttttttttt 0.453 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142680819 142680820 + RNA INS - - A rs150990366 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:142680819_142680820insA ENST00000369381.2 - 0 2507 GTGAAGCTAtgaaatgccttca 0.396 3 3 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143955026 143955027 + RNA INS - - T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:143955026_143955027insT ENST00000467933.1 + 0 915 AAGAAAAGACATTTTTTTTTTT 0.361 2 4 --- --- --- --- RP11-403I13.9 0 broad.mit.edu 37 1 149308125 149308126 + RNA INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:149308125_149308126insG ENST00000449024.1 - 0 187 CAGGATCTGAAGTGGGGGAACA 0.455 3 4 --- --- --- --- RP11-550P17.5 0 broad.mit.edu 37 1 159366589 159366589 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:159366589delG ENST00000431862.1 - 0 227 aaacttgaaaggcagtctaga 0.502 2 4 --- --- --- --- LOC400794 400794 broad.mit.edu 37 1 165453196 165453196 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:165453196delA ENST00000421273.1 - 0 1219 RP11-280O1.2_ENST00000416424.1_RNA NR_026744.1 actctatctcaaaaaaaaaag 0.512 3 6 --- --- --- --- RP1-15D23.2 0 broad.mit.edu 37 1 172937567 172937570 + RNA DEL TTCA TTCA - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:172937567_172937570delTTCA ENST00000432694.1 + 0 223 TATTAAATATttcattcattcatt 0.324 2 4 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177459030 177459032 + RNA DEL CCA CCA - rs147015834 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:177459030_177459032delCCA ENST00000438575.1 - 0 296 CCTGCCCCCCCCACACACACACA 0.463 2 4 --- --- --- --- LINC01350 101929093 broad.mit.edu 37 1 185533216 185533217 + RNA INS - - T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:185533216_185533217insT ENST00000439633.1 + 0 458 GCAGGGGTGAGTTTTTTTGGTG 0.485 2 4 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 188879151 188879152 + RNA INS - - GAAT rs138831655 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:188879151_188879152insGAAT ENST00000445072.1 + 0 239 GTTGAATCCCATATCCTCATGT 0.347 6 5 --- --- --- --- LOC284577 284577 broad.mit.edu 37 1 205431018 205431018 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:205431018delA ENST00000442318.1 + 0 481 tgcctaccttaaaaaaaaaac 0.463 2 4 --- --- --- --- LOC101927504 101927504 broad.mit.edu 37 1 230018375 230018376 + RNA INS - - C rs11433201 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr1:230018375_230018376insC ENST00000435973.1 - 0 213 agatccatttgccccccctcct 0.490 2 4 --- --- --- --- LOC101929551 101929551 broad.mit.edu 37 2 8039153 8039153 + RNA DEL A A - rs35128767 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:8039153delA ENST00000416534.1 - 0 50 actctgcttcaaaaaaaaaaa 0.398 4 2 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16575171 16575171 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:16575171delG ENST00000427950.1 + 0 157 GGGGAGGGTTGGGGGCAGAAG 0.537 6 4 --- --- --- --- AC067959.1 0 broad.mit.edu 37 2 21463327 21463328 + RNA INS - - A rs148386309 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:21463327_21463328insA ENST00000457901.1 + 0 110 tggggtattttttttttttttc 0.322 3 3 --- --- --- --- SRD5A2 6716 broad.mit.edu 37 2 31760094 31760094 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:31760094delT ENST00000405650.1 - 0 447 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) TGTGAGTCAAttttttttttt 0.418 3 4 --- --- --- --- AC079807.4 0 broad.mit.edu 37 2 48261871 48261871 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:48261871delT ENST00000447571.1 - 0 240 p.0?(2) GTTTCACTTATTTTTTTTTTC 0.294 3 6 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58993358 58993358 + RNA DEL T T - rs137976154 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:58993358delT ENST00000452840.1 + 0 257 GACATTCCTATTTGACTGCAA 0.383 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59682617 59682618 + RNA INS - - CAGG TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:59682617_59682618insCAGG ENST00000606382.1 - 0 433 TGCTAGTGAACCAGGCTTCCAT 0.376 4 6 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59814086 59814087 + RNA INS - - C rs34129068 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:59814086_59814087insC ENST00000606382.1 - 0 236 GCAAAACAACACCCCCAAAATT 0.396 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65727695 65727695 + RNA DEL T T - rs113792144 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:65727695delT ENST00000377977.3 + 0 343 TGCTGTTGACTTTTTTTTTTT 0.393 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 2 4 --- --- --- --- LOC100507073 100507073 broad.mit.edu 37 2 66802493 66802494 + RNA INS - - CTC rs70947306 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:66802493_66802494insCTC ENST00000433396.1 + 0 136 ttcttctccttctcctcctcct 0.530 OREG0014653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- ALMS1P 200420 broad.mit.edu 37 2 73911301 73911302 + RNA DEL TG TG - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:73911301_73911302delTG ENST00000450720.1 + 0 985 NR_003683.2 CTGACCCATCTGTGTGTGTGTG 0.569 2 4 --- --- --- --- LOC101928273 101928273 broad.mit.edu 37 2 138677599 138677599 + RNA DEL T T - rs59738630 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:138677599delT ENST00000458351.1 - 0 171 TACAAACACcttccctttctt 0.483 3 4 --- --- --- --- AC097721.2 0 broad.mit.edu 37 2 139218290 139218290 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:139218290delA ENST00000431985.1 - 0 506 tgaattcaggaaaatttcagg 0.353 2 4 --- --- --- --- AC073928.2 0 broad.mit.edu 37 2 140864964 140864964 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:140864964delG ENST00000417715.1 - 0 256 catgactcatgggaggaagtc 0.408 2 4 --- --- --- --- LOC100131270 100131270 broad.mit.edu 37 2 159563633 159563634 + RNA INS - - AA TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:159563633_159563634insAA ENST00000342892.4 - 0 275 AC005042.4_ENST00000442666.1_RNA|AC005042.5_ENST00000449526.1_lincRNA gttctgacagcagataagagaa 0.421 2 4 --- --- --- --- LOC101926913 101926913 broad.mit.edu 37 2 171587709 171587710 + RNA INS - - GT rs111342210 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:171587709_171587710insGT ENST00000442456.1 - 0 837 TTCCAGTTTGAgtgtgtgtgtg 0.416 2 4 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175571095 175571097 + RNA DEL CCA CCA - rs58692525 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:175571095_175571097delCCA ENST00000442996.1 + 0 217 agacccccccccaccgccagata 0.433 4 2 --- --- --- --- AC018890.4 0 broad.mit.edu 37 2 175651816 175651817 + RNA INS - - A rs12997140 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:175651816_175651817insA ENST00000416004.1 - 0 55 ctccgccccccgggttcaagca 0.495 2 4 --- --- --- --- AC079305.11 0 broad.mit.edu 37 2 177934576 177934578 + RNA DEL TAA TAA - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr2:177934576_177934578delTAA ENST00000441205.1 - 0 370 TTTTATGTAGTAATAATAATAAT 0.300 2 4 --- --- --- --- AC026167.1 0 broad.mit.edu 37 3 6332481 6332482 + RNA DEL AC AC - rs72162866 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:6332481_6332482delAC ENST00000435651.1 + 0 95 AGTCAGAATAacacacacacac 0.307 4 2 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8089656 8089656 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:8089656delA ENST00000446281.1 - 0 514 aactccatctaaaaaaaaaaa 0.463 2 4 --- --- --- --- HHATL-AS1 100874044 broad.mit.edu 37 3 42746571 42746572 + RNA INS - - TTGC rs140309339 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:42746571_42746572insTTGC ENST00000600839.1 + 0 103 tatcctgtgtattgtgtgtgca 0.436 3 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64775526 64775527 + RNA DEL AC AC - rs76760776 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:64775526_64775527delAC ENST00000460833.1 + 0 430 ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA CAGTTcacagacacacacacac 0.396 4 7 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84770231 84770232 + RNA DEL AC AC - rs71758209 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:84770231_84770232delAC ENST00000484892.1 - 0 1846 NR_033860.1 tctctactaaacacacacacac 0.520 2 4 --- --- --- --- RP11-572M11.4 0 broad.mit.edu 37 3 112826070 112826070 + RNA DEL T T - rs4146777 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:112826070delT ENST00000460707.1 + 0 390 RP11-572M11.4_ENST00000496389.1_RNA TGGAGAGCAATTAAGAATCTC 0.423 3 3 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 117734494 117734495 + RNA INS - - T rs79550334 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:117734494_117734495insT ENST00000482142.1 - 0 655 attttctctgcttttttttttt 0.337 2 4 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 117970103 117970103 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:117970103delT ENST00000482142.1 - 0 232 AGCATAAAACTTACCTCCTTA 0.438 2 4 --- --- --- --- NPHP3-AS1 348808 broad.mit.edu 37 3 132567884 132567885 + RNA DEL TC TC - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:132567884_132567885delTC ENST00000504440.1 + 0 1751 NR_002811.1 TACCATCACATCTCTCTCTCTT 0.446 5 10 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151612437 151612437 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:151612437delG ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA gttggtagaagggaattgatg 0.373 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177465195 177465198 + RNA DEL TAAG TAAG - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:177465195_177465198delTAAG ENST00000442937.1 + 0 428 NR_047568.1 TCTTAGGAAATAAGTAAGACTAAG 0.333 3 3 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177469546 177469546 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:177469546delG ENST00000442937.1 + 0 428 NR_047568.1 tagctggtgagcggagacgaa 0.483 2 4 --- --- --- --- RP11-30O15.1 0 broad.mit.edu 37 3 187514482 187514483 + RNA INS - - T rs144868988 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr3:187514482_187514483insT ENST00000433178.1 + 0 177 TTACTGTGTGATTTTTTTTTCC 0.342 5 8 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19680668 19680669 + RNA INS - - CTT rs75300745 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:19680668_19680669insCTT ENST00000511431.1 + 0 288 TATGGTTCTGACTTCCTCATGA 0.505 4 1 --- --- --- --- RP11-548L20.1 0 broad.mit.edu 37 4 34270378 34270379 + RNA INS - - A rs79066903 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:34270378_34270379insA ENST00000514877.1 - 0 125 ccgtcccccccaaaaaaaaaga 0.431 2 4 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105865452 105865452 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:105865452delT ENST00000515127.1 - 0 248 AGAGCTGTCCTTTTTCTCTAG 0.373 2 4 --- --- --- --- LEF1-AS1 641518 broad.mit.edu 37 4 109134671 109134671 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:109134671delG ENST00000512129.1 + 0 238 ACCTTTCTTAGGACTGCTCAG 0.562 2 4 --- --- --- --- PRSS12 8492 broad.mit.edu 37 4 119273504 119273505 + Frame_Shift_Ins INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:119273504_119273505insG ENST00000296498.3 - 1 653_654 c.371_372insC c.(370-372)cgcfs p.R124fs NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 124 Kringle. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 CCCAGCTCGCTGGGGGCGACCG 0.718 3 4 --- --- --- --- LOC729218 729218 broad.mit.edu 37 4 119545019 119545019 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:119545019delA ENST00000567913.2 + 0 856 ttttgtagtcaagagtttcgc 0.537 9 1 --- --- --- --- RP11-789C2.1 0 broad.mit.edu 37 4 132988084 132988084 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:132988084delA ENST00000420721.2 - 0 181 TATTAGTGTGAAAAAATCTGT 0.259 3 6 --- --- --- --- RP11-775H9.2 0 broad.mit.edu 37 4 137144494 137144495 + RNA INS - - A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:137144494_137144495insA ENST00000513332.1 - 0 279 GGGATAAGGGCAAAAAACTGTG 0.312 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 144036033 144036034 + RNA INS - - A rs11412346 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:144036033_144036034insA ENST00000507826.1 - 0 354 gaacttaaagtaaaaaaaaaaa 0.347 3 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 144068709 144068710 + RNA INS - - C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:144068709_144068710insC ENST00000507826.1 - 0 354 gaccttaaaaaccccctTCTCC 0.356 2 4 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150666720 150666721 + RNA INS - - A rs140466350 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:150666720_150666721insA ENST00000511993.1 - 0 330 ACGGTTACAGGAATGCTAAGGA 0.376 4 2 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150721961 150721961 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:150721961delA ENST00000511993.1 - 0 267 tgaaaactataaaacactaat 0.289 2 4 --- --- --- --- RP11-97E7.2 0 broad.mit.edu 37 4 172533959 172533960 + RNA INS - - A rs141043206 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:172533959_172533960insA ENST00000508977.1 - 0 277 aaataccactgaaaaaaaatca 0.327 3 3 --- --- --- --- LOC90768 90768 broad.mit.edu 37 4 182951205 182951206 + RNA INS - - TTG rs78952088 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:182951205_182951206insTTG ENST00000507869.1 - 0 354 AC108142.1_ENST00000509012.1_RNA TCAATGCATCTttgttgttgtt 0.366 4 3 --- --- --- --- LOC101928877 101928877 broad.mit.edu 37 4 185984721 185984721 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:185984721delT ENST00000509017.1 + 0 764 AATGAAGttcttttttttttt 0.478 2 4 --- --- --- --- F11-AS1 285441 broad.mit.edu 37 4 187260975 187260976 + RNA DEL AA AA - rs10553681 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:187260975_187260976delAA ENST00000505103.1 - 0 153 NR_033900.1 cgagactgtcaaaaaaaaaaaa 0.470 3 5 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190820380 190820380 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:190820380delT ENST00000511785.1 - 0 231 AGTTATTATATTTTTAAACCT 0.343 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190827130 190827131 + RNA INS - - A rs143153030 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr4:190827130_190827131insA ENST00000511785.1 - 0 231 tataagtatatttttttaattt 0.208 2 4 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 7071638 7071638 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:7071638delT ENST00000512838.1 + 0 154 ccttttttccttttttttttt 0.398 3 6 --- --- --- --- LOC729506 729506 broad.mit.edu 37 5 8415036 8415037 + RNA INS - - CC TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:8415036_8415037insCC ENST00000501071.1 - 0 168 RP11-480D4.2_ENST00000512406.1_lincRNA NR_039984.1 caagtgtcacacccccccacca 0.510 3 5 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 103911844 103911845 + RNA INS - - CCT rs113662380 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:103911844_103911845insCCT ENST00000503650.1 - 0 328 tccctctcctccctctctccct 0.609 2 4 --- --- --- --- LOC102467213 102467213 broad.mit.edu 37 5 106299407 106299409 + RNA DEL AAG AAG - rs33955145 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:106299407_106299409delAAG ENST00000505997.1 - 0 106 gaatgaaAATAAGAAGCCTAAGC 0.360 3 3 --- --- --- --- LINC01183 728586 broad.mit.edu 37 5 127118141 127118141 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:127118141delT ENST00000514853.2 + 0 278 ggtcctggacttttttttttg 0.338 2 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151416726 151416726 + RNA DEL T T - rs147513035 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:151416726delT ENST00000524295.1 + 0 199 taacccctgcttttttttttt 0.373 3 3 --- --- --- --- LOC102546299 102546299 broad.mit.edu 37 5 164079364 164079365 + RNA INS - - T rs60024868 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:164079364_164079365insT ENST00000517508.1 + 0 716 CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA tttcttttttgttttttttttt 0.332 4 2 --- --- --- --- FLJ16171 441116 broad.mit.edu 37 5 174382174 174382174 + RNA DEL T T - rs113018091 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:174382174delT ENST00000377300.3 - 0 1281 NR_046113.1 ATTTCTTTGCTTTTTTTTCtt 0.323 5 3 --- --- --- --- THOC3 84321 broad.mit.edu 37 5 175361487 175361488 + RNA INS - - A rs56342669 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr5:175361487_175361488insA ENST00000502813.1 - 0 87 caaagaaatgcaaaaaaaaaag 0.332 3 3 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 30017927 30017928 + RNA INS - - A rs150424905 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:30017927_30017928insA ENST00000376797.3 - 0 259 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000422224.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA actaaaaatacaaaattagctg 0.520 3 3 --- --- --- --- HCG20 414774 broad.mit.edu 37 6 30735656 30735656 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:30735656delT ENST00000439406.1 + 0 127 catgaactgcttttttttttt 0.507 3 3 --- --- --- --- ADCY10P1 221442 broad.mit.edu 37 6 41105476 41105477 + RNA INS - - GAA rs111233412 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:41105476_41105477insGAA ENST00000567255.1 + 0 3999 NR_026938.2 TCTGCATTTCTGAAGAAGTATT 0.416 4 2 --- --- --- --- TINAG 27283 broad.mit.edu 37 6 54254605 54254605 + Frame_Shift_Del DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:54254605delG ENST00000259782.4 + 11 1409 c.1313delG c.(1312-1314)tgfs p.W438fs NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 438 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GCCAATTCCTGGGGAAAGTCA 0.393 17 87 --- --- --- --- LOC100507557 100507557 broad.mit.edu 37 6 146197512 146197512 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:146197512delA ENST00000606388.1 + 0 580 RP11-545I5.3_ENST00000587540.1_RNA|RP11-545I5.3_ENST00000452617.1_RNA|RP11-545I5.3_ENST00000591489.1_RNA NR_038245.1|NR_038246.1 cccatcctctaaaaaaaataa 0.373 2 4 --- --- --- --- LOC102724087 102724087 broad.mit.edu 37 6 161373502 161373503 + RNA INS - - A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr6:161373502_161373503insA ENST00000417479.1 + 0 293 TTTATGGAGTCAAAAAAAACCC 0.356 2 4 --- --- --- --- LOC101927630 101927630 broad.mit.edu 37 7 17506542 17506542 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:17506542delT ENST00000451792.1 - 0 287 TAGGCAATGGTTTGATGCCAA 0.333 2 4 --- --- --- --- RP4-724E13.2 0 broad.mit.edu 37 7 50988185 50988185 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:50988185delT ENST00000420449.1 + 0 24 ATTGATGAGATTTGGATGACA 0.433 2 4 --- --- --- --- RP4-724E13.2 0 broad.mit.edu 37 7 50996886 50996887 + RNA DEL TG TG - rs59007756 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:50996886_50996887delTG ENST00000420449.1 + 0 24 tgtatatttatgtgtgtgtgtg 0.421 4 4 --- --- --- --- INTS4P1 285905 broad.mit.edu 37 7 64677143 64677146 + RNA DEL CTTT CTTT - rs5884556 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:64677143_64677146delCTTT ENST00000587624.1 + 0 1437 tcgttccttcctttttcttttttt 0.451 4 4 --- --- --- --- RP11-142A5.1 0 broad.mit.edu 37 7 91142826 91142826 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:91142826delA ENST00000456952.1 - 0 112 TGGTTTATTTAAAAAAAAaaa 0.323 2 4 --- --- --- --- RP11-142A5.1 0 broad.mit.edu 37 7 91164504 91164504 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:91164504delT ENST00000456952.1 - 0 112 TTTCTTTTCCTTTTTtttttt 0.348 3 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100333192 100333193 + RNA INS - - A rs141210381 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:100333192_100333193insA ENST00000542585.1 + 0 201 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) aaaaagaaaagaaaaaaagaaa 0.426 5 1 --- --- --- --- RP11-61D3.1 0 broad.mit.edu 37 7 122709570 122709571 + RNA INS - - A rs71958109 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:122709570_122709571insA ENST00000420146.2 - 0 240 AAGTTAATCTGAAAAAAAAAAA 0.411 2 4 --- --- --- --- AC000370.2 0 broad.mit.edu 37 7 126021798 126021799 + RNA INS - - T rs147334788 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:126021798_126021799insT ENST00000488818.1 + 0 32 TTTCTTTGTCATTTTTTTTTAC 0.342 4 6 --- --- --- --- AC008154.5 0 broad.mit.edu 37 7 134034100 134034100 + RNA DEL C C - rs35257540 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:134034100delC ENST00000453087.1 - 0 112 TCCCAGATGTCCGCCATCACA 0.408 5 2 --- --- --- --- LOC349160 349160 broad.mit.edu 37 7 136477944 136477945 + RNA INS - - T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:136477944_136477945insT ENST00000439694.1 - 0 343 AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA agctgaaagcctttcctctaag 0.391 2 4 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 8 25 --- --- --- --- RP11-624C23.1 0 broad.mit.edu 37 8 24274417 24274417 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:24274417delT ENST00000519689.1 - 0 184 RP11-624C23.1_ENST00000523578.1_RNA CCTACTGTCATTTTTGAGGAT 0.363 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89347276 89347277 + RNA INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:89347276_89347277insG ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA AGACCTTTTTTGGGGGGGGCAT 0.376 3 5 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89723607 89723607 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:89723607delA ENST00000521936.1 + 0 59 acctaatctgaaaatccaaaa 0.358 2 4 --- --- --- --- FLJ46284 441369 broad.mit.edu 37 8 93724218 93724218 + RNA DEL T T - rs5893223 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:93724218delT ENST00000521148.1 - 0 256 RP11-100L22.2_ENST00000521230.1_RNA GGTTGAGGACTTTTTTTTTTT 0.323 3 4 --- --- --- --- LOC101927172 101927172 broad.mit.edu 37 8 102486128 102486130 + RNA DEL TTT TTT - rs148760035 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:102486128_102486130delTTT ENST00000520268.1 - 0 50 CCAGtttgtcttttttttttttt 0.448 2 4 --- --- --- --- KB-1507C5.4 0 broad.mit.edu 37 8 103998858 103998858 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:103998858delT ENST00000517983.1 + 0 171 ATTTATTTGGTTTTTTTCCTG 0.353 2 4 --- --- --- --- PCAT2 103164619 broad.mit.edu 37 8 128085952 128085953 + RNA INS - - ACA rs144814101 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:128085952_128085953insACA ENST00000523510.1 - 0 350 aagttaatatcacaagatacca 0.376 4 2 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130451050 130451051 + RNA INS - - TATT rs140714084 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:130451050_130451051insTATT ENST00000446592.3 - 0 360 RP11-26E5.1_ENST00000519048.1_lincRNA GTACTTGTGTCTATCAACATCA 0.317 5 3 --- --- --- --- LOC101927822 101927822 broad.mit.edu 37 8 134906172 134906173 + RNA DEL CC CC - rs141137808 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:134906172_134906173delCC ENST00000520149.2 + 0 45 cacacacacaccccccacaagc 0.441 6 8 --- --- --- --- RP11-513H8.1 0 broad.mit.edu 37 8 135311676 135311676 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:135311676delG ENST00000523317.1 - 0 84 gccattggctggcagcacagc 0.527 2 4 --- --- --- --- RP11-30J20.1 0 broad.mit.edu 37 8 137821626 137821626 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:137821626delG ENST00000521090.1 + 0 478 AGTTGAAACTGGGAAGTAGCC 0.408 2 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 138882918 138882918 + RNA DEL A A - rs34259329 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr8:138882918delA ENST00000518973.1 - 0 514 RP11-238K6.2_ENST00000519652.1_lincRNA actccatctcaaaaaaaaaaa 0.438 2 4 --- --- --- --- RP11-74C3.1 0 broad.mit.edu 37 9 12128014 12128015 + RNA DEL TC TC - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:12128014_12128015delTC ENST00000452685.1 - 0 160 gtatgtgtgtTCTCTCTCTCTC 0.376 2 4 --- --- --- --- LINC01239 441389 broad.mit.edu 37 9 22732587 22732588 + RNA INS - - T rs141546526 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:22732587_22732588insT ENST00000436786.1 + 0 524 NR_038977.1 cctagtacccatagttattttt 0.431 3 2 --- --- --- --- RP11-149F8.5 0 broad.mit.edu 37 9 68330988 68330988 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:68330988delT ENST00000431077.1 + 0 123 ttggaaggagttttttttttt 0.348 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68402587 68402587 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr9:68402587delA ENST00000417843.2 - 0 224 TGTAAAATTTAGGCAGAATTT 0.289 2 4 --- --- --- --- LOC101927964 101927964 broad.mit.edu 37 10 4123632 4123632 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:4123632delA ENST00000455199.1 + 0 432 gaaaaagaagaaaaaaaaaaa 0.483 3 5 --- --- --- --- LINC01375 101926924 broad.mit.edu 37 10 91687680 91687681 + RNA INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:91687680_91687681insG ENST00000428485.1 - 0 577 tggccaaggtcggggggcagtg 0.515 2 4 --- --- --- --- EMX2OS 196047 broad.mit.edu 37 10 119245865 119245866 + RNA INS - - TGAA rs71475198 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:119245865_119245866insTGAA ENST00000549104.1 + 0 268 EMX2OS_ENST00000450314.2_RNA ctctgtgtctttggctttttcc 0.505 5 4 --- --- --- --- CASC2 255082 broad.mit.edu 37 10 119831099 119831099 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:119831099delA ENST00000435944.1 + 0 452 CASC2_ENST00000454857.1_RNA|CASC2_ENST00000439517.1_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000454781.1_RNA NR_026939.1 AAACTCTTATAAAGATAAATT 0.289 2 4 --- --- --- --- RP11-168C9.1 0 broad.mit.edu 37 10 131076764 131076765 + RNA INS - - A rs111657112 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr10:131076764_131076765insA ENST00000414581.1 + 0 83 TACAATAACTCAAAAAAAAAAA 0.446 3 4 --- --- --- --- LOC283299 283299 broad.mit.edu 37 11 7847746 7847746 + RNA DEL T T - rs80106926 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:7847746delT ENST00000527565.1 - 0 542 CAGAAAAATCTTTTTTTTTTT 0.308 3 3 --- --- --- --- RP11-98J9.2 0 broad.mit.edu 37 11 13899773 13899774 + RNA INS - - A rs11427139 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:13899773_13899774insA ENST00000530492.1 - 0 78 atcctTTACTCAAAAAAACAGC 0.446 4 2 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14199968 14199968 + RNA DEL A A - rs67971507 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:14199968delA ENST00000310358.7 + 0 1360 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) actccgtctcaaaaaaaaaaa 0.488 3 5 --- --- --- --- RP11-624D11.2 0 broad.mit.edu 37 11 30104439 30104439 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:30104439delA ENST00000527819.1 - 0 31 CTCTAAGGTTaaaaaaaaaag 0.333 2 4 --- --- --- --- RP11-613D13.4 0 broad.mit.edu 37 11 43969243 43969243 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:43969243delA ENST00000526408.1 + 0 153 TGAGAGACAGAAGGATAAAGG 0.512 2 4 --- --- --- --- LOC283194 283194 broad.mit.edu 37 11 58820000 58820001 + RNA INS - - T rs142784521 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:58820000_58820001insT ENST00000533954.1 - 0 458 RP11-142C4.6_ENST00000532098.1_RNA NR_033853.1 AGATTTGCCTATTCAAAATGGT 0.446 4 4 --- --- --- --- PATL1 219988 broad.mit.edu 37 11 59425145 59425146 + Frame_Shift_Ins INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:59425145_59425146insG ENST00000300146.9 - 5 562_563 c.478_479insC c.(478-480)gggfs p.G160fs NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 160 Pro-rich.|Region N; interaction with decapping machinery. Q -> H (in Ref. 2; BAG54601). cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTCTGGACCCTGGGGGGGCCTC 0.455 7 81 --- --- --- --- AP001257.1 0 broad.mit.edu 37 11 59927487 59927488 + RNA INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:59927487_59927488insG ENST00000533106.1 - 0 202 AAAAAAATGTTGGGGGGGAGGA 0.421 2 4 --- --- --- --- LOC101928989 101928989 broad.mit.edu 37 11 81733384 81733384 + RNA DEL A A - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:81733384delA ENST00000500502.1 - 0 813 atttcatctcaaaaaaaaaat 0.418 2 4 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90436413 90436421 + RNA DEL GGTACTGTA GGTACTGTA - rs34014114 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:90436413_90436421delGGTACTGTA ENST00000562678.1 + 0 185 atccccacttggtactgtaggtactgtat 0.435 3 3 --- --- --- --- RP11-708B6.2 0 broad.mit.edu 37 11 109396697 109396697 + RNA DEL C C - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr11:109396697delC ENST00000532929.1 - 0 117 RP11-708B6.2_ENST00000532992.1_RNA gtaatcccaactacttgggag 0.552 2 4 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7081125 7081127 + RNA DEL TCC TCC - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:7081125_7081127delTCC ENST00000546220.1 + 0 198 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GCAGTGTTCTTCCTCCTCCTTTC 0.374 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76029026 76029026 + RNA DEL A A - rs58638346 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:76029026delA ENST00000552856.1 - 0 401 AGGTCTCTGTAAAAAAAAAAA 0.368 2 4 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89639817 89639818 + RNA INS - - C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:89639817_89639818insC ENST00000549278.1 - 0 144 GAGAGGTGATTCCCCCCAAAAA 0.411 2 4 --- --- --- --- RP11-1060G2.1 0 broad.mit.edu 37 12 94325659 94325662 + RNA DEL AAGG AAGG - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:94325659_94325662delAAGG ENST00000550687.1 - 0 59 agaaggaagaaaggaaggaaggaa 0.446 4 4 --- --- --- --- RP11-690J15.1 0 broad.mit.edu 37 12 98588684 98588685 + RNA INS - - C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:98588684_98588685insC ENST00000548344.1 - 0 68 CTCTGTAATCACCCCCGTTGCC 0.406 2 4 --- --- --- --- FOXN4 121643 broad.mit.edu 37 12 109725661 109725662 + Frame_Shift_Ins INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:109725661_109725662insG ENST00000299162.5 - 5 559_560 c.455_456insC c.(454-456)cggfs p.R152fs FOXN4_ENST00000355216.1_Intron NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 152 Pro-rich. axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 GCTGGGCACCCGGGGGGAGCGG 0.673 3 3 --- --- --- --- RP11-357K6.3 0 broad.mit.edu 37 12 119301192 119301193 + RNA INS - - TGAA rs35024448 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr12:119301192_119301193insTGAA ENST00000544515.1 - 0 447 caagtaattgCtgaatgaatga 0.386 3 5 --- --- --- --- LINC00383 103689913 broad.mit.edu 37 13 69835394 69835395 + RNA DEL GT GT - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr13:69835394_69835395delGT ENST00000433664.1 + 0 103 gtgtgtgtgcgtgtgtgtgtgt 0.366 2 4 --- --- --- --- BMS1P18 414763 broad.mit.edu 37 14 19891054 19891055 + RNA DEL CT CT - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:19891054_19891055delCT ENST00000552602.1 - 0 293 tacacacacactcacactaaca 0.525 2 4 --- --- --- --- LINC00871 100506412 broad.mit.edu 37 14 46620331 46620332 + RNA INS - - A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:46620331_46620332insA ENST00000556886.1 + 0 58 NR_102701.1 gctggcctcataaaatgagtta 0.386 2 4 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57372958 57372959 + RNA DEL TG TG - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:57372958_57372959delTG ENST00000534909.2 + 0 474 OTX2-AS1_ENST00000554725.1_RNA|OTX2-AS1_ENST00000554358.1_RNA|OTX2-AS1_ENST00000554428.1_RNA NR_029385.1 TGCTGGCGTTTGTGTGTGTGTG 0.416 2 4 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57434962 57434963 + RNA INS - - C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:57434962_57434963insC ENST00000554725.1 + 0 344 cacacttcctacccCCCGCACC 0.505 3 4 --- --- --- --- RP11-72M17.1 0 broad.mit.edu 37 14 66717081 66717081 + RNA DEL T T - rs139051430 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:66717081delT ENST00000556874.1 - 0 643 gagactacaattttttttttc 0.478 5 3 --- --- --- --- LINC01146 283587 broad.mit.edu 37 14 88519941 88519941 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:88519941delT ENST00000556033.1 + 0 195 NR_046094.1 attaattttgtatcctgaaac 0.383 4 5 --- --- --- --- RP11-1070N10.5 0 broad.mit.edu 37 14 96093114 96093114 + RNA DEL G G - rs34803022 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr14:96093114delG ENST00000555032.1 + 0 120 gactgttctaggtacctcata 0.388 3 6 --- --- --- --- AC124997.1 0 broad.mit.edu 37 15 25761462 25761462 + RNA DEL T T - rs148802085 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:25761462delT ENST00000422117.1 - 0 167 ttcctttctgttttaaaaagt 0.418 5 1 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 35883211 35883212 + RNA INS - - A rs78106467 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:35883211_35883212insA ENST00000501169.2 + 0 279 NR_038251.1 ccttgttgctcaaaaaaaAAAA 0.455 3 4 --- --- --- --- RP11-184D12.1 0 broad.mit.edu 37 15 36315173 36315174 + RNA INS - - G TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:36315173_36315174insG ENST00000561394.1 - 0 199 CATGGAGGGCCGGGGGGAAGAG 0.490 2 4 --- --- --- --- RP11-184D12.1 0 broad.mit.edu 37 15 36376545 36376546 + RNA INS - - ACACACAC rs112831025 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:36376545_36376546insACACACAC ENST00000561394.1 - 0 136 atcaaacaaggacacacacaca 0.386 2 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39672248 39672249 + RNA INS - - A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr15:39672248_39672249insA ENST00000559318.1 - 0 408 RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA ttaaaaaccagaaaaaaacaag 0.406 2 4 --- --- --- --- RP11-279O17.3 0 broad.mit.edu 37 16 8375581 8375584 + RNA DEL AATG AATG - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:8375581_8375584delAATG ENST00000564185.1 + 0 223 caagtgaaccaatgaatgaatgaa 0.353 2 4 --- --- --- --- U91319.1 0 broad.mit.edu 37 16 13470887 13470888 + RNA INS - - A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:13470887_13470888insA ENST00000571619.1 + 0 420 AAGTTAATGAGAAAAAAACCTT 0.446 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18255179 18255179 + RNA DEL A A - rs66994148 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:18255179delA ENST00000563866.1 - 0 48 atcctgtctcaaaaaaaaaaa 0.498 3 2 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 60036934 60036934 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:60036934delT ENST00000568279.1 + 0 173 ctttttttcctttttttcttt 0.353 2 4 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64492876 64492876 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:64492876delT ENST00000564046.1 + 0 116 CTTTGTTACATTTTTTTATTA 0.413 2 4 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72475438 72475439 + RNA INS - - T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:72475438_72475439insT ENST00000561611.2 - 0 221 atatgtgactctttttttcact 0.356 2 4 --- --- --- --- RP11-525K10.1 0 broad.mit.edu 37 16 80108484 80108485 + RNA INS - - AA rs72126411 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr16:80108484_80108485insAA ENST00000567851.1 + 0 405 ACCCCTGTCATAAAAAAAAAAA 0.401 2 4 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 2 4 --- --- --- --- RP11-445F12.1 0 broad.mit.edu 37 17 35239698 35239699 + RNA INS - - C rs140231588 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:35239698_35239699insC ENST00000528383.1 - 0 98 GTCACTACACTCCCCACCCCCT 0.475 2 4 --- --- --- --- TBX4 9496 broad.mit.edu 37 17 59557500 59557501 + Frame_Shift_Ins INS - - C TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:59557500_59557501insC ENST00000393853.4 + 8 1004_1005 c.841_842insC c.(841-843)cccfs p.P281fs TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Frame_Shift_Ins_p.P281fs P57082 TBX4_HUMAN T-box 4 281 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GAGGCTCATCTCCCCCCAGCTC 0.604 7 132 --- --- --- --- LOC100294362 100294362 broad.mit.edu 37 17 78376954 78376969 + RNA DEL ATATGTACATATCTAC ATATGTACATATCTAC - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr17:78376954_78376969delATATGTACATATCTAC ENST00000575034.1 - 0 190 CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA NR_029376.1 tattatgtagatatgtacatatctacatatgtacat 0.398 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1044329 1044329 + RNA DEL C C - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:1044329delC ENST00000580781.1 + 0 306 gaaattggatcctcatctctc 0.328 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1046990 1046990 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:1046990delT ENST00000580781.1 + 0 306 ttgatgggcatttgggttggt 0.363 2 4 --- --- --- --- LINC00470 56651 broad.mit.edu 37 18 1333208 1333211 + RNA DEL TCTA TCTA - rs71972296 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:1333208_1333211delTCTA ENST00000412816.3 - 0 307 pancreas(1) 1 atcatctatctctatctatctatc 0.358 2 4 --- --- --- --- LINC00470 56651 broad.mit.edu 37 18 1344197 1344197 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:1344197delG ENST00000412816.3 - 0 307 pancreas(1) 1 ttgaggtactggcggacttgc 0.438 2 4 --- --- --- --- LOC643542 643542 broad.mit.edu 37 18 65311849 65311849 + RNA DEL A A - rs36025025 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:65311849delA ENST00000583687.1 + 0 204 NR_033921.1 gaccctgtctaaaaaaaaaaa 0.383 2 4 --- --- --- --- RP11-176N18.2 0 broad.mit.edu 37 18 75239346 75239349 + RNA DEL TGTG TGTG - rs60352649 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr18:75239346_75239349delTGTG ENST00000583629.1 + 0 497 tgcatgtgtctgtgtgtgtgtgca 0.505 5 1 --- --- --- --- CTC-360P9.1 0 broad.mit.edu 37 19 32389793 32389793 + RNA DEL A A - rs72050658 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:32389793delA ENST00000592270.1 - 0 89 ccaatcccataacttcctttg 0.453 5 1 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 43071310 43071310 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:43071310delT ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 CTGCTGCTGCttttttttttc 0.532 OREG0025507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- CTB-147C22.9 0 broad.mit.edu 37 19 51497716 51497717 + RNA INS - - G rs144670178 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr19:51497716_51497717insG ENST00000594512.1 + 0 429 CTATTTTCTAAAGATCCTAGTG 0.441 5 2 --- --- --- --- CASC20 101929244 broad.mit.edu 37 20 6464344 6464344 + RNA DEL C C - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:6464344delC ENST00000415932.1 + 0 218 GTCTAATATTCCAGATAAATG 0.413 2 4 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10937351 10937352 + RNA INS - - A TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:10937351_10937352insA ENST00000605292.1 + 0 439 AAAGTTCAAAGAAAAAAAGGTA 0.243 2 4 --- --- --- --- LINC01432 100270679 broad.mit.edu 37 20 22051856 22051871 + RNA DEL TGCTCAACCGGCATTA TGCTCAACCGGCATTA - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:22051856_22051871delTGCTCAACCGGCATTA ENST00000449427.1 + 0 342 NR_038394.1 CAGTAAACTGTGCTCAACCGGCATTATCATTATGGA 0.417 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29583615 29583616 + RNA INS - - T rs149569779 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:29583615_29583616insT ENST00000432067.1 - 0 288 TCTGACAATGCCAATTTTTTAA 0.213 3 6 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29595455 29595456 + RNA INS - - C rs138176306 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:29595455_29595456insC ENST00000432067.1 - 0 74 CTCCCAGGTTGCTTGCAATGGC 0.431 2 4 --- --- --- --- RP1-191L6.2 0 broad.mit.edu 37 20 38754705 38754706 + RNA INS - - T rs72532547 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr20:38754705_38754706insT ENST00000445278.1 + 0 263 GAACTGCACTATTTTTTTTTTT 0.396 4 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11068974 11068974 + RNA DEL T T - rs147179649 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr21:11068974delT 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) caagcaaagattttttaataa 0.279 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069159 11069160 + RNA DEL TA TA - rs4009917 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr21:11069159_11069160delTA 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) aataatatattaaaaaaaactt 0.277 3 4 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11171340 11171340 + RNA DEL G G - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr21:11171340delG ENST00000603265.1 + 0 54 ctttatcaaagtcagttgact 0.378 2 4 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11171911 11171912 + RNA DEL AT AT - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr21:11171911_11171912delAT ENST00000603265.1 + 0 54 aagatttcacatgagtggtatc 0.391 3 6 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17543911 17543911 + RNA DEL T T - rs142575605 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr21:17543911delT ENST00000458468.1 + 0 312 NR_027790.1 ccctgaagccttttttttttt 0.458 2 4 --- --- --- --- CRYBB2P1 1416 broad.mit.edu 37 22 25852833 25852836 + RNA DEL GCGT GCGT - rs11277931 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr22:25852833_25852836delGCGT ENST00000354451.2 + 0 123 gtgtgcgcgcgcgtgtgtgtgtgc 0.559 4 2 --- --- --- --- LARGE 9215 broad.mit.edu 37 22 33568435 33568436 + RNA DEL CA CA - rs5845070 by1000genomes TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chr22:33568435_33568436delCA ENST00000421232.1 - 0 150 ttcccctgctcactctctctct 0.446 3 4 --- --- --- --- RP5-964N17.1 0 broad.mit.edu 37 X 112881313 112881313 + RNA DEL T T - TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chrX:112881313delT ENST00000468762.2 - 0 26 tacaaaaatattttttttata 0.224 2 4 --- --- --- --- RP5-1139I1.2 0 broad.mit.edu 37 X 118494580 118494581 + RNA INS - - G rs67326056 TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b0bb86-6092-47ef-8088-fd0a4f261439 46f2d9fa-8b65-4181-a982-a422cde22423 g.chrX:118494580_118494581insG ENST00000413240.1 - 0 491 TGTATGGTGGTGGGGGGGGCAA 0.485 2 4 --- --- --- ---